Incidental Mutation 'R0513:Ttc3'
| ID |
48056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc3
|
| Ensembl Gene |
ENSMUSG00000040785 |
| Gene Name |
tetratricopeptide repeat domain 3 |
| Synonyms |
D16Ium21e, TPRD, 2610202A04Rik, D16Ium21 |
| MMRRC Submission |
038707-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R0513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
94171479-94270081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94227071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 727
(I727N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117648]
[ENSMUST00000122895]
[ENSMUST00000141856]
[ENSMUST00000143145]
[ENSMUST00000147046]
[ENSMUST00000151770]
[ENSMUST00000152117]
[ENSMUST00000147352]
[ENSMUST00000150346]
[ENSMUST00000155692]
[ENSMUST00000231569]
[ENSMUST00000153988]
[ENSMUST00000232395]
[ENSMUST00000232660]
[ENSMUST00000231915]
[ENSMUST00000231850]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117648
AA Change: I727N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: I727N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
231 |
264 |
3.61e-2 |
SMART |
|
TPR
|
265 |
298 |
3.32e-1 |
SMART |
|
Blast:TPR
|
300 |
332 |
2e-12 |
BLAST |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
TPR
|
576 |
609 |
2.55e-2 |
SMART |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1291 |
N/A |
INTRINSIC |
|
coiled coil region
|
1472 |
1570 |
N/A |
INTRINSIC |
|
low complexity region
|
1876 |
1887 |
N/A |
INTRINSIC |
|
RING
|
1931 |
1970 |
7e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122895
AA Change: I709N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: I709N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
3.61e-2 |
SMART |
|
TPR
|
247 |
280 |
3.32e-1 |
SMART |
|
Blast:TPR
|
282 |
314 |
3e-12 |
BLAST |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
TPR
|
558 |
591 |
2.55e-2 |
SMART |
|
low complexity region
|
702 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141176
AA Change: I34N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114483
Gene: ENSMUSG00000040785
AA Change: I34N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141856
|
| SMART Domains |
Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_1
|
90 |
121 |
1e-6 |
PFAM |
|
Pfam:TPR_2
|
90 |
121 |
7.9e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143145
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147046
AA Change: I326N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785
AA Change: I326N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
175 |
206 |
5.3e-6 |
PFAM |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151770
AA Change: I727N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: I727N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
231 |
264 |
3.61e-2 |
SMART |
|
TPR
|
265 |
298 |
3.32e-1 |
SMART |
|
Blast:TPR
|
300 |
332 |
3e-12 |
BLAST |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
TPR
|
576 |
609 |
2.55e-2 |
SMART |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152117
AA Change: I326N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: I326N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
SCOP:d1ihga1
|
69 |
201 |
6e-8 |
SMART |
|
Blast:TPR
|
175 |
208 |
1e-14 |
BLAST |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
coiled coil region
|
364 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147352
AA Change: I709N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: I709N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
3.61e-2 |
SMART |
|
TPR
|
247 |
280 |
3.32e-1 |
SMART |
|
Blast:TPR
|
282 |
314 |
3e-12 |
BLAST |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
TPR
|
558 |
591 |
2.55e-2 |
SMART |
|
low complexity region
|
702 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150346
AA Change: I326N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785
AA Change: I326N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
175 |
206 |
9.6e-6 |
PFAM |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
coiled coil region
|
364 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155692
AA Change: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: I746N
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
250 |
283 |
3.61e-2 |
SMART |
|
TPR
|
284 |
317 |
3.32e-1 |
SMART |
|
Blast:TPR
|
319 |
351 |
3e-12 |
BLAST |
|
low complexity region
|
463 |
478 |
N/A |
INTRINSIC |
|
TPR
|
595 |
628 |
2.55e-2 |
SMART |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
coiled coil region
|
784 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
1037 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231569
AA Change: I372N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153988
AA Change: I417N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785
AA Change: I417N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
1 |
22 |
3e-6 |
BLAST |
|
low complexity region
|
134 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232395
AA Change: I727N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232660
AA Change: I727N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231850
|
| Meta Mutation Damage Score |
0.2609 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
99% (122/123) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,195 (GRCm39) |
T146A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,192,984 (GRCm39) |
S121P |
possibly damaging |
Het |
| Actr2 |
T |
C |
11: 20,030,124 (GRCm39) |
T212A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,347,088 (GRCm39) |
D368E |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,725,786 (GRCm39) |
T333S |
probably benign |
Het |
| Anapc15 |
T |
C |
7: 101,547,747 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,256,678 (GRCm39) |
R67G |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,286,459 (GRCm39) |
D697G |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,005,766 (GRCm39) |
S755T |
probably benign |
Het |
| Atm |
A |
G |
9: 53,415,248 (GRCm39) |
V881A |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,809,948 (GRCm39) |
|
probably benign |
Het |
| Cfap20dc |
A |
C |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,877,215 (GRCm39) |
N491K |
possibly damaging |
Het |
| Chgb |
T |
C |
2: 132,627,897 (GRCm39) |
|
probably benign |
Het |
| Chrna1 |
C |
A |
2: 73,398,426 (GRCm39) |
|
probably benign |
Het |
| Chst10 |
A |
G |
1: 38,904,844 (GRCm39) |
L283P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,466,323 (GRCm39) |
|
probably null |
Het |
| Crppa |
A |
T |
12: 36,440,467 (GRCm39) |
H125L |
probably damaging |
Het |
| Cryzl1 |
G |
T |
16: 91,496,175 (GRCm39) |
A1E |
possibly damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,709,618 (GRCm39) |
Y213H |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,805,375 (GRCm39) |
Q2062R |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,835,348 (GRCm39) |
C310R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,755 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,085,684 (GRCm39) |
P486S |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,361 (GRCm39) |
L33P |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,164 (GRCm39) |
G856R |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,258,612 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
T |
1: 191,301,819 (GRCm39) |
Y79* |
probably null |
Het |
| Egfr |
T |
G |
11: 16,822,855 (GRCm39) |
L406R |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,800,695 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,310,621 (GRCm39) |
|
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,570 (GRCm39) |
E264G |
possibly damaging |
Het |
| Fscn2 |
G |
T |
11: 120,252,706 (GRCm39) |
V58L |
probably damaging |
Het |
| Gm17324 |
G |
A |
9: 78,356,007 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,425,086 (GRCm39) |
N357K |
probably benign |
Het |
| Gm9956 |
G |
T |
10: 56,621,291 (GRCm39) |
|
|
Het |
| Gsg1l |
C |
T |
7: 125,619,795 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
A |
9: 66,352,927 (GRCm39) |
V2138M |
possibly damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,764 (GRCm39) |
L448P |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,970,034 (GRCm39) |
S255L |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,859,384 (GRCm39) |
D271G |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,194,816 (GRCm39) |
L606H |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,252,906 (GRCm39) |
N53K |
probably damaging |
Het |
| Lsr |
G |
C |
7: 30,657,763 (GRCm39) |
A467G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,823,038 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,998,802 (GRCm39) |
Y337* |
probably null |
Het |
| Mlxipl |
A |
T |
5: 135,166,117 (GRCm39) |
Q833L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,515 (GRCm39) |
V278M |
probably damaging |
Het |
| Mxra8 |
A |
C |
4: 155,926,190 (GRCm39) |
M180L |
probably benign |
Het |
| Myo18a |
A |
T |
11: 77,702,420 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,556,657 (GRCm39) |
|
probably null |
Het |
| Myo1g |
T |
C |
11: 6,460,203 (GRCm39) |
T782A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,975,401 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,328,256 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,741,185 (GRCm39) |
K343R |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,531,584 (GRCm39) |
D733E |
possibly damaging |
Het |
| Nolc1 |
G |
A |
19: 46,072,598 (GRCm39) |
D699N |
probably damaging |
Het |
| Nrbp2 |
C |
T |
15: 75,960,825 (GRCm39) |
A45T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,952,348 (GRCm39) |
V3907A |
possibly damaging |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or2y6 |
T |
C |
11: 52,104,576 (GRCm39) |
Q80R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pank2 |
C |
T |
2: 131,124,526 (GRCm39) |
T290I |
probably damaging |
Het |
| Pbx4 |
T |
C |
8: 70,317,529 (GRCm39) |
V171A |
probably benign |
Het |
| Pcgf1 |
G |
T |
6: 83,057,555 (GRCm39) |
V75F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,660 (GRCm39) |
S778P |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,676,047 (GRCm39) |
I141M |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,914,864 (GRCm39) |
V2508E |
probably damaging |
Het |
| Prkca |
C |
G |
11: 107,905,202 (GRCm39) |
D179H |
possibly damaging |
Het |
| Pspn |
T |
C |
17: 57,306,720 (GRCm39) |
S70G |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,814,637 (GRCm39) |
T846I |
probably benign |
Het |
| Reg3g |
A |
C |
6: 78,444,827 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,704,139 (GRCm39) |
H2062Y |
probably benign |
Het |
| Rsph4a |
C |
T |
10: 33,788,987 (GRCm39) |
Q611* |
probably null |
Het |
| Scart1 |
C |
A |
7: 139,804,873 (GRCm39) |
C625* |
probably null |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,739 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
C |
6: 85,246,955 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,857,651 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,762 (GRCm39) |
I37V |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,503,906 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
C |
7: 15,891,264 (GRCm39) |
D768A |
probably damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,924,909 (GRCm39) |
|
noncoding transcript |
Het |
| Smurf2 |
T |
A |
11: 106,726,931 (GRCm39) |
T453S |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,532,927 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,351,509 (GRCm39) |
T205I |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,902 (GRCm39) |
I1316V |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,646,900 (GRCm39) |
R187G |
probably damaging |
Het |
| Tcea2 |
A |
C |
2: 181,326,274 (GRCm39) |
T93P |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,830 (GRCm39) |
M2311T |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,788,026 (GRCm39) |
Q260R |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,780,158 (GRCm39) |
H698L |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,700 (GRCm39) |
D215G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,773,669 (GRCm39) |
K2271N |
probably damaging |
Het |
| Ubr2 |
T |
A |
17: 47,297,705 (GRCm39) |
K223* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,144,186 (GRCm39) |
M1410V |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,271 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,981,391 (GRCm39) |
H880L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,661,633 (GRCm39) |
C1686Y |
possibly damaging |
Het |
| Upf2 |
T |
A |
2: 5,962,478 (GRCm39) |
L60Q |
unknown |
Het |
| Usf2 |
A |
T |
7: 30,654,161 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,586 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,970 (GRCm39) |
K181* |
probably null |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,991 (GRCm39) |
S693T |
possibly damaging |
Het |
| Vmn2r76 |
C |
A |
7: 85,877,987 (GRCm39) |
G470V |
probably benign |
Het |
| Vps13c |
A |
C |
9: 67,838,017 (GRCm39) |
I1856L |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,520,210 (GRCm39) |
L119F |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,038,655 (GRCm39) |
S2012C |
probably damaging |
Het |
| Zfp1008 |
A |
C |
13: 62,753,029 (GRCm39) |
V99G |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,714 (GRCm39) |
V924A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,644 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfp39 |
C |
T |
11: 58,780,813 (GRCm39) |
V650I |
probably benign |
Het |
| Zfp82 |
A |
T |
7: 29,756,265 (GRCm39) |
N272K |
probably damaging |
Het |
| Zfyve21 |
A |
C |
12: 111,789,698 (GRCm39) |
D54A |
possibly damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,291,258 (GRCm39) |
D2116N |
probably damaging |
Het |
|
| Other mutations in Ttc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Ttc3
|
APN |
16 |
94,227,620 (GRCm39) |
splice site |
probably null |
|
|
IGL00979:Ttc3
|
APN |
16 |
94,257,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Ttc3
|
APN |
16 |
94,191,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01663:Ttc3
|
APN |
16 |
94,210,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01720:Ttc3
|
APN |
16 |
94,186,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01736:Ttc3
|
APN |
16 |
94,243,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02045:Ttc3
|
APN |
16 |
94,210,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02203:Ttc3
|
APN |
16 |
94,219,457 (GRCm39) |
splice site |
probably benign |
|
|
IGL02327:Ttc3
|
APN |
16 |
94,248,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Ttc3
|
APN |
16 |
94,268,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02898:Ttc3
|
APN |
16 |
94,220,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Ttc3
|
UTSW |
16 |
94,211,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0064:Ttc3
|
UTSW |
16 |
94,223,106 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Ttc3
|
UTSW |
16 |
94,191,124 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0112:Ttc3
|
UTSW |
16 |
94,186,181 (GRCm39) |
splice site |
probably benign |
|
|
R0135:Ttc3
|
UTSW |
16 |
94,263,127 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0480:Ttc3
|
UTSW |
16 |
94,232,863 (GRCm39) |
nonsense |
probably null |
|
|
R0532:Ttc3
|
UTSW |
16 |
94,188,189 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Ttc3
|
UTSW |
16 |
94,257,644 (GRCm39) |
nonsense |
probably null |
|
|
R0742:Ttc3
|
UTSW |
16 |
94,260,739 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0905:Ttc3
|
UTSW |
16 |
94,257,648 (GRCm39) |
nonsense |
probably null |
|
|
R1118:Ttc3
|
UTSW |
16 |
94,217,127 (GRCm39) |
splice site |
probably benign |
|
|
R1355:Ttc3
|
UTSW |
16 |
94,219,496 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1370:Ttc3
|
UTSW |
16 |
94,219,496 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1486:Ttc3
|
UTSW |
16 |
94,248,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Ttc3
|
UTSW |
16 |
94,223,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Ttc3
|
UTSW |
16 |
94,244,176 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2092:Ttc3
|
UTSW |
16 |
94,243,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2232:Ttc3
|
UTSW |
16 |
94,260,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2339:Ttc3
|
UTSW |
16 |
94,232,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Ttc3
|
UTSW |
16 |
94,232,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Ttc3
|
UTSW |
16 |
94,232,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3117:Ttc3
|
UTSW |
16 |
94,243,422 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4194:Ttc3
|
UTSW |
16 |
94,223,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4329:Ttc3
|
UTSW |
16 |
94,267,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Ttc3
|
UTSW |
16 |
94,211,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4530:Ttc3
|
UTSW |
16 |
94,267,736 (GRCm39) |
intron |
probably benign |
|
|
R4531:Ttc3
|
UTSW |
16 |
94,267,736 (GRCm39) |
intron |
probably benign |
|
|
R4532:Ttc3
|
UTSW |
16 |
94,267,736 (GRCm39) |
intron |
probably benign |
|
|
R4533:Ttc3
|
UTSW |
16 |
94,267,736 (GRCm39) |
intron |
probably benign |
|
|
R4588:Ttc3
|
UTSW |
16 |
94,243,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4625:Ttc3
|
UTSW |
16 |
94,189,131 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Ttc3
|
UTSW |
16 |
94,243,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Ttc3
|
UTSW |
16 |
94,240,100 (GRCm39) |
splice site |
probably null |
|
|
R4856:Ttc3
|
UTSW |
16 |
94,191,142 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4867:Ttc3
|
UTSW |
16 |
94,255,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4885:Ttc3
|
UTSW |
16 |
94,220,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Ttc3
|
UTSW |
16 |
94,227,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4899:Ttc3
|
UTSW |
16 |
94,230,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Ttc3
|
UTSW |
16 |
94,253,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Ttc3
|
UTSW |
16 |
94,230,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5105:Ttc3
|
UTSW |
16 |
94,267,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5205:Ttc3
|
UTSW |
16 |
94,248,918 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5287:Ttc3
|
UTSW |
16 |
94,260,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5338:Ttc3
|
UTSW |
16 |
94,184,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5347:Ttc3
|
UTSW |
16 |
94,230,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Ttc3
|
UTSW |
16 |
94,260,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5460:Ttc3
|
UTSW |
16 |
94,258,241 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5739:Ttc3
|
UTSW |
16 |
94,240,183 (GRCm39) |
nonsense |
probably null |
|
|
R6242:Ttc3
|
UTSW |
16 |
94,243,554 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6253:Ttc3
|
UTSW |
16 |
94,258,272 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6455:Ttc3
|
UTSW |
16 |
94,219,482 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R6559:Ttc3
|
UTSW |
16 |
94,223,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6564:Ttc3
|
UTSW |
16 |
94,243,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Ttc3
|
UTSW |
16 |
94,244,312 (GRCm39) |
missense |
probably benign |
|
|
R7331:Ttc3
|
UTSW |
16 |
94,195,218 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7497:Ttc3
|
UTSW |
16 |
94,219,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7610:Ttc3
|
UTSW |
16 |
94,228,697 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7738:Ttc3
|
UTSW |
16 |
94,188,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7970:Ttc3
|
UTSW |
16 |
94,258,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Ttc3
|
UTSW |
16 |
94,268,848 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8087:Ttc3
|
UTSW |
16 |
94,243,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8309:Ttc3
|
UTSW |
16 |
94,267,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Ttc3
|
UTSW |
16 |
94,219,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Ttc3
|
UTSW |
16 |
94,255,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Ttc3
|
UTSW |
16 |
94,258,238 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8670:Ttc3
|
UTSW |
16 |
94,191,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8826:Ttc3
|
UTSW |
16 |
94,232,829 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8868:Ttc3
|
UTSW |
16 |
94,252,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8873:Ttc3
|
UTSW |
16 |
94,243,842 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8940:Ttc3
|
UTSW |
16 |
94,230,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8993:Ttc3
|
UTSW |
16 |
94,228,667 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9068:Ttc3
|
UTSW |
16 |
94,204,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Ttc3
|
UTSW |
16 |
94,192,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9124:Ttc3
|
UTSW |
16 |
94,236,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9129:Ttc3
|
UTSW |
16 |
94,185,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9189:Ttc3
|
UTSW |
16 |
94,268,831 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9217:Ttc3
|
UTSW |
16 |
94,230,467 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9490:Ttc3
|
UTSW |
16 |
94,245,360 (GRCm39) |
missense |
probably benign |
|
|
R9564:Ttc3
|
UTSW |
16 |
94,248,918 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9631:Ttc3
|
UTSW |
16 |
94,171,581 (GRCm39) |
intron |
probably benign |
|
|
X0022:Ttc3
|
UTSW |
16 |
94,243,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
Y5378:Ttc3
|
UTSW |
16 |
94,212,988 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCTTAGACACGGTTCACG -3'
(R):5'- GGAGCAAGCCTTAATGCAATGCAC -3'
Sequencing Primer
(F):5'- ATGAGAACTTCAGGGCTTACTG -3'
(R):5'- GCAATGCACTCCGTAATATCCTTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation