Incidental Mutation 'R5023:Ttc3'
| ID |
453529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc3
|
| Ensembl Gene |
ENSMUSG00000040785 |
| Gene Name |
tetratricopeptide repeat domain 3 |
| Synonyms |
D16Ium21e, TPRD, 2610202A04Rik, D16Ium21 |
| MMRRC Submission |
042614-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R5023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
94171479-94270081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94230218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 450
(E450G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117648]
[ENSMUST00000122895]
[ENSMUST00000143145]
[ENSMUST00000147046]
[ENSMUST00000147352]
[ENSMUST00000151770]
[ENSMUST00000150346]
[ENSMUST00000152117]
[ENSMUST00000155692]
[ENSMUST00000232660]
[ENSMUST00000231569]
[ENSMUST00000232395]
[ENSMUST00000231915]
[ENSMUST00000153988]
[ENSMUST00000231850]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117648
AA Change: E805G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: E805G
| 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 benign
Transcript: ENSMUST00000122895
AA Change: E787G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: E787G
| 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 benign
Transcript: ENSMUST00000141176
|
| SMART Domains |
Protein: ENSMUSP00000114483
Gene: ENSMUSG00000040785
| 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: ENSMUST00000143145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147046
|
| SMART Domains |
Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785
| 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 benign
Transcript: ENSMUST00000147352
AA Change: E787G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: E787G
| 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 benign
Transcript: ENSMUST00000151770
AA Change: E805G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: E805G
| 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 benign
Transcript: ENSMUST00000150346
AA Change: E404G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785
AA Change: E404G
| 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 benign
Transcript: ENSMUST00000152117
AA Change: E404G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: E404G
| 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 benign
Transcript: ENSMUST00000155692
AA Change: E824G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: E824G
| 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 benign
Transcript: ENSMUST00000232660
AA Change: E805G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231569
AA Change: E450G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232395
AA Change: E805G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153988
|
| SMART Domains |
Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
1 |
22 |
3e-6 |
BLAST |
|
low complexity region
|
134 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231850
|
| Meta Mutation Damage Score |
0.0669 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (127/129) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 124 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Abca8b |
A |
G |
11: 109,865,814 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,222 (GRCm39) |
V608M |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,735,520 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
A |
C |
5: 90,430,727 (GRCm39) |
L1019R |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Best3 |
G |
A |
10: 116,824,647 (GRCm39) |
V38I |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| C1d |
T |
A |
11: 17,216,674 (GRCm39) |
N135K |
probably benign |
Het |
| Cage1 |
G |
T |
13: 38,195,387 (GRCm39) |
S778* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,074,383 (GRCm39) |
V262E |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,656 (GRCm39) |
R95G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,259,752 (GRCm39) |
S194N |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,636,631 (GRCm39) |
D236V |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Ctsw |
T |
A |
19: 5,516,077 (GRCm39) |
D237V |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,951 (GRCm39) |
T289I |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,700,078 (GRCm39) |
Y133C |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,690 (GRCm39) |
E1847G |
probably damaging |
Het |
| Dnah7a |
C |
A |
1: 53,686,407 (GRCm39) |
E248* |
probably null |
Het |
| Eef2kmt |
T |
A |
16: 5,065,463 (GRCm39) |
D248V |
probably damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,038,054 (GRCm39) |
T113A |
possibly damaging |
Het |
| Fbxo4 |
A |
G |
15: 4,007,238 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
A |
T |
15: 36,163,075 (GRCm39) |
M44K |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 38,097,863 (GRCm39) |
I340T |
possibly damaging |
Het |
| Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Glp2r |
T |
C |
11: 67,631,858 (GRCm39) |
T121A |
possibly damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm15455 |
T |
C |
1: 33,876,432 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1818 |
G |
C |
12: 48,602,318 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb2 |
G |
A |
5: 137,528,202 (GRCm39) |
|
probably null |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpx5 |
C |
T |
13: 21,472,915 (GRCm39) |
V140I |
probably damaging |
Het |
| Gtpbp1 |
A |
T |
15: 79,603,422 (GRCm39) |
Q637L |
possibly damaging |
Het |
| H2-T9 |
A |
G |
17: 36,420,307 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Hhat |
A |
T |
1: 192,409,647 (GRCm39) |
L138Q |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,684,823 (GRCm39) |
T264N |
probably damaging |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Hnf4g |
G |
T |
3: 3,709,647 (GRCm39) |
A144S |
probably damaging |
Het |
| Hook3 |
TAGAG |
TAG |
8: 26,522,047 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
G |
A |
1: 173,579,306 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ino80b |
G |
T |
6: 83,102,023 (GRCm39) |
S26R |
probably damaging |
Het |
| Ints9 |
T |
A |
14: 65,217,677 (GRCm39) |
L68H |
probably damaging |
Het |
| Isx |
C |
T |
8: 75,619,342 (GRCm39) |
T178I |
probably benign |
Het |
| Kel |
A |
G |
6: 41,665,045 (GRCm39) |
L255P |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,705,358 (GRCm39) |
S271T |
probably benign |
Het |
| Klhl20 |
A |
C |
1: 160,936,790 (GRCm39) |
|
probably null |
Het |
| Lama2 |
G |
A |
10: 27,066,500 (GRCm39) |
T1127I |
probably damaging |
Het |
| Larp1b |
T |
A |
3: 40,988,420 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lsm11 |
T |
C |
11: 45,835,666 (GRCm39) |
D25G |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,232,689 (GRCm39) |
|
probably benign |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Mybpc1 |
T |
G |
10: 88,379,636 (GRCm39) |
D635A |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Ndufa7 |
A |
G |
17: 34,043,577 (GRCm39) |
|
probably benign |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nme4 |
G |
A |
17: 26,312,642 (GRCm39) |
T129I |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,730,546 (GRCm39) |
T159S |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,834,585 (GRCm39) |
|
probably benign |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Or51ac3 |
A |
C |
7: 103,214,378 (GRCm39) |
M36R |
possibly damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
G |
14: 123,027,810 (GRCm39) |
N73D |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,587 (GRCm39) |
H1551L |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,445,623 (GRCm39) |
M3768I |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,076,195 (GRCm39) |
M275V |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Ptprv |
A |
T |
1: 135,052,244 (GRCm39) |
|
noncoding transcript |
Het |
| Rad17 |
A |
T |
13: 100,781,571 (GRCm39) |
H75Q |
possibly damaging |
Het |
| Rbm44 |
T |
C |
1: 91,096,820 (GRCm39) |
|
probably null |
Het |
| Rbpj |
C |
T |
5: 53,806,757 (GRCm39) |
R201W |
probably damaging |
Het |
| Rbpjl |
C |
A |
2: 164,252,209 (GRCm39) |
L215I |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,283,129 (GRCm39) |
E398G |
probably benign |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Selenot |
CATGTATG |
CATGTATGTATG |
3: 58,495,874 (GRCm39) |
|
probably null |
Het |
| Siglec15 |
A |
G |
18: 78,091,890 (GRCm39) |
C104R |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,841,455 (GRCm39) |
I787V |
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,412,422 (GRCm39) |
D521G |
probably benign |
Het |
| Slc7a10 |
T |
A |
7: 34,896,780 (GRCm39) |
M172K |
possibly damaging |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,963 (GRCm39) |
V206G |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,105,297 (GRCm39) |
K137R |
possibly damaging |
Het |
| Srrm2 |
C |
A |
17: 24,038,291 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,785 (GRCm39) |
Y84N |
possibly damaging |
Het |
| Syngr2 |
A |
T |
11: 117,703,336 (GRCm39) |
I34F |
probably benign |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tead4 |
T |
C |
6: 128,271,134 (GRCm39) |
|
probably benign |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tex36 |
A |
T |
7: 133,197,019 (GRCm39) |
C33S |
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,419,359 (GRCm39) |
D58E |
probably damaging |
Het |
| Timm21 |
C |
A |
18: 84,967,539 (GRCm39) |
V112L |
possibly damaging |
Het |
| Tmem240 |
T |
A |
4: 155,824,131 (GRCm39) |
L92Q |
probably damaging |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tmod3 |
G |
A |
9: 75,418,488 (GRCm39) |
P183S |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim16 |
A |
T |
11: 62,727,638 (GRCm39) |
Y233F |
probably benign |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttk |
A |
G |
9: 83,745,594 (GRCm39) |
D647G |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,285,052 (GRCm39) |
Y257* |
probably null |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,826,428 (GRCm39) |
Y819C |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,909 (GRCm39) |
T624A |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,095 (GRCm39) |
D353G |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,106,556 (GRCm39) |
S216T |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,056 (GRCm39) |
H371L |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,662,873 (GRCm39) |
K561E |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,836,681 (GRCm39) |
D31N |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
probably damaging |
Het |
| Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
probably benign |
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 |
|
|
R0513:Ttc3
|
UTSW |
16 |
94,227,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
94,227,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4885:Ttc3
|
UTSW |
16 |
94,220,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTAAGTCAAACCAGAGTCAGATAG -3'
(R):5'- ACATAGTCCACTGCTTCATGG -3'
Sequencing Primer
(F):5'- GCGGACTCACTACACTCTAGATGTG -3'
(R):5'- CACTGCTTCATGGACAAAATTTTTGC -3'
|
| Posted On |
2017-02-09 |
Incidental Mutation