Incidental Mutation 'R6967:Ttc13'
| ID |
542057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
045077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125415357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 261
(I261V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041614
AA Change: I261V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: I261V
| 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 benign
Transcript: ENSMUST00000117624
AA Change: I283V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: I283V
| 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 benign
Transcript: ENSMUST00000118134
AA Change: I337V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: I337V
| 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 |
probably benign
Transcript: ENSMUST00000214828
AA Change: I390V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231984
AA Change: I261V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
A |
G |
7: 103,708,212 (GRCm39) |
I199T |
probably benign |
Het |
| Adam23 |
T |
G |
1: 63,602,495 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
C |
T |
9: 30,865,787 (GRCm39) |
T445I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,864,524 (GRCm39) |
V752A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,130 (GRCm39) |
E1437G |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,998 (GRCm39) |
S131N |
possibly damaging |
Het |
| Ces1f |
G |
A |
8: 93,994,625 (GRCm39) |
P262L |
probably benign |
Het |
| Chrna2 |
A |
T |
14: 66,388,398 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,797,420 (GRCm39) |
V1295M |
possibly damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dach1 |
A |
T |
14: 98,140,633 (GRCm39) |
S456R |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,499,231 (GRCm39) |
D659G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,585,821 (GRCm39) |
V586A |
probably damaging |
Het |
| Efhb |
G |
T |
17: 53,770,196 (GRCm39) |
L38I |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,429 (GRCm39) |
S108P |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,987,344 (GRCm39) |
N313S |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,482,102 (GRCm39) |
E172G |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,292,734 (GRCm39) |
V191A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
C |
T |
9: 58,731,228 (GRCm39) |
T145M |
unknown |
Het |
| Kirrel3 |
T |
C |
9: 34,946,202 (GRCm39) |
S654P |
probably damaging |
Het |
| Klrb1 |
A |
T |
6: 128,687,486 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,025,339 (GRCm39) |
D166V |
probably damaging |
Het |
| Lipk |
T |
A |
19: 34,017,794 (GRCm39) |
Y277* |
probably null |
Het |
| Ly6g |
A |
C |
15: 75,030,398 (GRCm39) |
N49T |
possibly damaging |
Het |
| Ms4a4c |
A |
T |
19: 11,392,191 (GRCm39) |
Q4L |
probably benign |
Het |
| Nfya |
A |
C |
17: 48,699,932 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,913,709 (GRCm39) |
V530A |
probably benign |
Het |
| Ocln |
A |
T |
13: 100,675,796 (GRCm39) |
Y232* |
probably null |
Het |
| Or10ag59 |
A |
G |
2: 87,405,857 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or2r2 |
A |
G |
6: 42,463,947 (GRCm39) |
F60S |
probably damaging |
Het |
| Or4d2b |
C |
T |
11: 87,780,324 (GRCm39) |
V133I |
probably benign |
Het |
| Or5b114-ps1 |
A |
G |
19: 13,352,815 (GRCm39) |
H163R |
unknown |
Het |
| Otogl |
G |
A |
10: 107,649,911 (GRCm39) |
A1148V |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,880,113 (GRCm39) |
W46* |
probably null |
Het |
| Psd2 |
C |
A |
18: 36,113,385 (GRCm39) |
L286M |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,612,311 (GRCm39) |
Y27* |
probably null |
Het |
| Ripk2 |
A |
G |
4: 16,158,275 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
C |
T |
7: 4,967,146 (GRCm39) |
|
probably null |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,466,728 (GRCm39) |
D4072A |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,912,345 (GRCm39) |
Y214C |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,513,202 (GRCm39) |
D256E |
possibly damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,847 (GRCm39) |
Y90C |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,469,564 (GRCm39) |
I1088T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,819 (GRCm39) |
D1710E |
probably benign |
Het |
| Tmc7 |
T |
A |
7: 118,146,901 (GRCm39) |
T459S |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,780 (GRCm39) |
Y164C |
probably damaging |
Het |
| Tmem275 |
A |
G |
4: 115,755,491 (GRCm39) |
T97A |
unknown |
Het |
| Tmem63b |
T |
C |
17: 45,977,558 (GRCm39) |
E356G |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,544 (GRCm39) |
K121* |
probably null |
Het |
| Zc3h12d |
A |
T |
10: 7,715,644 (GRCm39) |
S16C |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,812 (GRCm39) |
M1744K |
probably 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 |
|
R0638: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 |
|
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'- TCTCGGAAGACACTGAGGAC -3'
(R):5'- CACTAACTAACCTGGAAGGGG -3'
Sequencing Primer
(F):5'- AAGACACTGAGGACCCTGGTC -3'
(R):5'- TAACCTGGAAGGGGTGCCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation