Incidental Mutation 'R0638:Ttc13'
| ID |
56820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
038827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125401105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 624
(S624T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041614
AA Change: S625T
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: S625T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
153 |
204 |
3e-8 |
PFAM |
|
Pfam:TPR_19
|
154 |
213 |
5.1e-8 |
PFAM |
|
Pfam:TPR_1
|
173 |
206 |
6.1e-10 |
PFAM |
|
Pfam:TPR_2
|
173 |
206 |
1.2e-7 |
PFAM |
|
Pfam:TPR_8
|
173 |
206 |
5.2e-8 |
PFAM |
|
Pfam:TPR_16
|
177 |
241 |
6.5e-11 |
PFAM |
|
Pfam:TPR_9
|
179 |
249 |
3.5e-6 |
PFAM |
|
Pfam:TPR_11
|
204 |
272 |
2.2e-8 |
PFAM |
|
Pfam:TPR_1
|
207 |
240 |
3.3e-5 |
PFAM |
|
Pfam:TPR_2
|
207 |
240 |
1.9e-5 |
PFAM |
|
Blast:UTG
|
692 |
755 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117624
AA Change: S647T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: S647T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Blast:TPR
|
128 |
161 |
2e-13 |
BLAST |
|
TPR
|
162 |
194 |
1.08e1 |
SMART |
|
TPR
|
195 |
228 |
2.24e-7 |
SMART |
|
TPR
|
229 |
262 |
3.67e-3 |
SMART |
|
Blast:UTG
|
714 |
777 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118134
AA Change: S701T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: S701T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Blast:TPR
|
128 |
156 |
4e-10 |
BLAST |
|
TPR
|
181 |
214 |
5.56e-3 |
SMART |
|
TPR
|
215 |
248 |
1.17e-1 |
SMART |
|
TPR
|
249 |
282 |
2.24e-7 |
SMART |
|
TPR
|
283 |
316 |
3.67e-3 |
SMART |
|
Blast:UTG
|
768 |
831 |
1e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140350
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214828
AA Change: S753T
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: S624T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1038 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,547,572 (GRCm39) |
Q161K |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,900,748 (GRCm39) |
L1216Q |
probably damaging |
Het |
| Aifm3 |
T |
C |
16: 17,321,535 (GRCm39) |
F463L |
possibly damaging |
Het |
| Antxr2 |
C |
T |
5: 98,108,496 (GRCm39) |
W338* |
probably null |
Het |
| Apc2 |
T |
C |
10: 80,140,801 (GRCm39) |
S219P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,389 (GRCm39) |
|
probably null |
Het |
| Arrdc5 |
A |
G |
17: 56,607,020 (GRCm39) |
V75A |
possibly damaging |
Het |
| Atg16l2 |
A |
T |
7: 100,949,317 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
G |
15: 80,265,281 (GRCm39) |
N1511S |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,235,032 (GRCm39) |
Y2095H |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,753 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,765 (GRCm39) |
D975G |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,232,247 (GRCm39) |
I480V |
probably damaging |
Het |
| Efl1 |
C |
T |
7: 82,301,095 (GRCm39) |
T33I |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,728,060 (GRCm39) |
F74L |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,149 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
G |
T |
15: 75,875,776 (GRCm39) |
H520Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,178,446 (GRCm39) |
C1931S |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,581 (GRCm39) |
D96G |
probably benign |
Het |
| Gbp4 |
A |
G |
5: 105,269,706 (GRCm39) |
M374T |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,718,359 (GRCm39) |
|
probably benign |
Het |
| Gm10010 |
A |
G |
6: 128,177,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10355 |
T |
C |
3: 101,214,214 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
C |
T |
8: 70,264,095 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,276,796 (GRCm39) |
F110Y |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,468,396 (GRCm39) |
V45M |
probably benign |
Het |
| Il15 |
T |
C |
8: 83,069,890 (GRCm39) |
E58G |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,951,771 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
C |
A |
2: 62,607,854 (GRCm39) |
V576L |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,772,816 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,235 (GRCm39) |
E416G |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,740 (GRCm39) |
Y526H |
probably damaging |
Het |
| Mtx2 |
T |
C |
2: 74,699,634 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,036 (GRCm39) |
Y496N |
probably benign |
Het |
| Nfyc |
A |
G |
4: 120,626,081 (GRCm39) |
S73P |
probably benign |
Het |
| Or10v9 |
C |
T |
19: 11,832,487 (GRCm39) |
V277M |
probably damaging |
Het |
| Or10v9 |
A |
C |
19: 11,832,732 (GRCm39) |
V195G |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,750 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,268,845 (GRCm39) |
I219T |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,101 (GRCm39) |
D119V |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,869 (GRCm39) |
V206A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,896 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,130,868 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,421,298 (GRCm39) |
S671P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,112 (GRCm39) |
T1547A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,001,600 (GRCm39) |
S1685P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,361,036 (GRCm39) |
Y4452H |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,810,670 (GRCm39) |
D229G |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,078 (GRCm39) |
S84P |
possibly damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,441 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,347 (GRCm39) |
D847G |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,027,030 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
C |
15: 66,589,057 (GRCm39) |
T13P |
probably damaging |
Het |
| Timeless |
T |
A |
10: 128,080,542 (GRCm39) |
Y474* |
probably null |
Het |
| Tmem94 |
T |
C |
11: 115,682,886 (GRCm39) |
|
probably null |
Het |
| Trdmt1 |
G |
A |
2: 13,521,459 (GRCm39) |
|
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Txnl1 |
A |
G |
18: 63,825,135 (GRCm39) |
|
probably benign |
Het |
| Unkl |
T |
C |
17: 25,427,057 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,639,437 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,908 (GRCm39) |
K497E |
possibly damaging |
Het |
| Vmn1r49 |
C |
A |
6: 90,049,648 (GRCm39) |
S118I |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,466 (GRCm39) |
K495E |
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 33,005,073 (GRCm39) |
C560Y |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,563 (GRCm39) |
R660G |
probably benign |
Het |
| Zfp280c |
A |
G |
X: 47,637,580 (GRCm39) |
|
probably benign |
Het |
| Zfp707 |
G |
A |
15: 75,846,978 (GRCm39) |
A291T |
possibly damaging |
Het |
|
| Other mutations in Ttc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Ttc13
|
APN |
8 |
125,415,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL01086:Ttc13
|
APN |
8 |
125,402,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01411:Ttc13
|
APN |
8 |
125,410,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Ttc13
|
APN |
8 |
125,403,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Ttc13
|
APN |
8 |
125,403,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Ttc13
|
APN |
8 |
125,400,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL01967:Ttc13
|
APN |
8 |
125,439,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01995:Ttc13
|
APN |
8 |
125,415,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02456:Ttc13
|
APN |
8 |
125,417,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02816:Ttc13
|
APN |
8 |
125,439,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
3-1:Ttc13
|
UTSW |
8 |
125,405,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
LCD18:Ttc13
|
UTSW |
8 |
125,402,605 (GRCm39) |
intron |
probably benign |
|
|
R0126:Ttc13
|
UTSW |
8 |
125,410,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0391:Ttc13
|
UTSW |
8 |
125,401,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0629:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0714:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Ttc13
|
UTSW |
8 |
125,440,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2051:Ttc13
|
UTSW |
8 |
125,398,950 (GRCm39) |
splice site |
probably null |
|
|
R2324:Ttc13
|
UTSW |
8 |
125,405,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Ttc13
|
UTSW |
8 |
125,405,736 (GRCm39) |
splice site |
probably benign |
|
|
R2571:Ttc13
|
UTSW |
8 |
125,410,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Ttc13
|
UTSW |
8 |
125,410,573 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3112:Ttc13
|
UTSW |
8 |
125,410,573 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4560:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Ttc13
|
UTSW |
8 |
125,408,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Ttc13
|
UTSW |
8 |
125,401,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Ttc13
|
UTSW |
8 |
125,406,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Ttc13
|
UTSW |
8 |
125,421,674 (GRCm39) |
nonsense |
probably null |
|
|
R5397:Ttc13
|
UTSW |
8 |
125,402,002 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5619:Ttc13
|
UTSW |
8 |
125,406,683 (GRCm39) |
intron |
probably benign |
|
|
R5966:Ttc13
|
UTSW |
8 |
125,408,959 (GRCm39) |
intron |
probably benign |
|
|
R6092:Ttc13
|
UTSW |
8 |
125,405,772 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6321:Ttc13
|
UTSW |
8 |
125,409,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Ttc13
|
UTSW |
8 |
125,400,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6737:Ttc13
|
UTSW |
8 |
125,408,900 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6804:Ttc13
|
UTSW |
8 |
125,426,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Ttc13
|
UTSW |
8 |
125,415,357 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7542:Ttc13
|
UTSW |
8 |
125,401,842 (GRCm39) |
splice site |
probably null |
|
|
R7905:Ttc13
|
UTSW |
8 |
125,415,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8769:Ttc13
|
UTSW |
8 |
125,405,816 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8792:Ttc13
|
UTSW |
8 |
125,401,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Ttc13
|
UTSW |
8 |
125,409,976 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8953:Ttc13
|
UTSW |
8 |
125,402,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Ttc13
|
UTSW |
8 |
125,410,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9151:Ttc13
|
UTSW |
8 |
125,402,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9221:Ttc13
|
UTSW |
8 |
125,400,290 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9251:Ttc13
|
UTSW |
8 |
125,401,992 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9502:Ttc13
|
UTSW |
8 |
125,410,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9600:Ttc13
|
UTSW |
8 |
125,415,284 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0027:Ttc13
|
UTSW |
8 |
125,400,328 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ttc13
|
UTSW |
8 |
125,421,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTTCAGAGAGCAGCACACGG -3'
(R):5'- TTCTAACTAAGCACGCCAGCCCTG -3'
Sequencing Primer
(F):5'- acccacctgcctgtctc -3'
(R):5'- CCCTGAGAGAGGGCAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation