Incidental Mutation 'R6737:Ttc13'
| ID |
530247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
044855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 125408900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000214828]
[ENSMUST00000231984]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041614
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
| 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 null
Transcript: ENSMUST00000041614
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
| 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 null
Transcript: ENSMUST00000117624
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
| 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 null
Transcript: ENSMUST00000117624
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
| 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 null
Transcript: ENSMUST00000118134
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
| 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 null
Transcript: ENSMUST00000118134
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
| 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: ENSMUST00000128390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140350
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231984
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231984
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,456 (GRCm39) |
R114G |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,397,351 (GRCm39) |
S1661T |
probably benign |
Het |
| Castor1 |
A |
G |
11: 4,171,685 (GRCm39) |
D303G |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,245,262 (GRCm39) |
A188T |
probably benign |
Het |
| Cecr2 |
G |
T |
6: 120,714,084 (GRCm39) |
L225F |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,243,647 (GRCm39) |
V1603A |
possibly damaging |
Het |
| Clec4g |
T |
C |
8: 3,757,716 (GRCm39) |
|
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,371,001 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
G |
T |
4: 133,800,001 (GRCm39) |
G387V |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,391,140 (GRCm39) |
M249K |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,966,980 (GRCm39) |
S952* |
probably null |
Het |
| Cxcr2 |
T |
C |
1: 74,197,790 (GRCm39) |
F95L |
probably benign |
Het |
| Ddx55 |
C |
A |
5: 124,691,008 (GRCm39) |
T5K |
probably damaging |
Het |
| Depp1 |
G |
T |
6: 116,629,058 (GRCm39) |
V134L |
possibly damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,171,377 (GRCm39) |
N342S |
probably benign |
Het |
| Eif2ak4 |
TGG |
TG |
2: 118,292,749 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
G |
10: 25,364,916 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,513 (GRCm39) |
K493E |
probably damaging |
Het |
| Fndc7 |
C |
A |
3: 108,779,594 (GRCm39) |
V317L |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,339 (GRCm39) |
I7M |
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,903 (GRCm39) |
I370N |
probably benign |
Het |
| Glo1 |
C |
T |
17: 30,816,814 (GRCm39) |
S114N |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,848,279 (GRCm39) |
D163G |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,835 (GRCm39) |
C195R |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,451 (GRCm39) |
N806S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,605 (GRCm39) |
N987S |
probably benign |
Het |
| Klhl29 |
G |
T |
12: 5,260,124 (GRCm39) |
S31R |
possibly damaging |
Het |
| Lama4 |
C |
T |
10: 38,970,907 (GRCm39) |
R1491C |
probably damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,443,051 (GRCm39) |
L578P |
probably damaging |
Het |
| Lrrk2 |
A |
C |
15: 91,607,421 (GRCm39) |
M595L |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,571,955 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,276,088 (GRCm39) |
A474V |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,694,908 (GRCm39) |
H134R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,236 (GRCm39) |
M1394T |
unknown |
Het |
| Myof |
G |
A |
19: 37,931,962 (GRCm39) |
T968I |
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,844,055 (GRCm39) |
G116D |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,777,562 (GRCm39) |
L494P |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,810,601 (GRCm39) |
V459E |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,633,030 (GRCm39) |
Y1034N |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,842,682 (GRCm39) |
S829T |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,732 (GRCm39) |
S206G |
probably benign |
Het |
| Or4f47 |
T |
C |
2: 111,972,548 (GRCm39) |
F86S |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,357 (GRCm39) |
L75F |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,175 (GRCm39) |
L285P |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,710,344 (GRCm39) |
V324F |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,723 (GRCm39) |
L701H |
probably damaging |
Het |
| Plau |
T |
G |
14: 20,887,884 (GRCm39) |
Y43D |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,917,588 (GRCm39) |
N53I |
probably damaging |
Het |
| Pon2 |
T |
A |
6: 5,266,183 (GRCm39) |
I279F |
probably benign |
Het |
| Prep |
A |
T |
10: 44,973,591 (GRCm39) |
K233I |
possibly damaging |
Het |
| Rap1b |
T |
C |
10: 117,658,713 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,789 (GRCm39) |
|
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,979,344 (GRCm39) |
|
probably benign |
Het |
| Rpl9-ps6 |
A |
C |
19: 32,443,727 (GRCm39) |
S75R |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,719,818 (GRCm39) |
Y609C |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,392,936 (GRCm39) |
N1232S |
unknown |
Het |
| Slc28a1 |
T |
G |
7: 80,818,996 (GRCm39) |
V615G |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snx13 |
T |
G |
12: 35,190,185 (GRCm39) |
N845K |
probably damaging |
Het |
| Srms |
T |
C |
2: 180,851,253 (GRCm39) |
Y171C |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,122,644 (GRCm39) |
L193P |
probably damaging |
Het |
| Syt7 |
G |
A |
19: 10,421,408 (GRCm39) |
V531M |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,507,096 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,650,235 (GRCm39) |
K449N |
possibly damaging |
Het |
| Trim29 |
A |
T |
9: 43,230,681 (GRCm39) |
D288V |
probably benign |
Het |
| Uchl3 |
A |
T |
14: 101,928,033 (GRCm39) |
D167V |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,311,895 (GRCm39) |
V379A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,757 (GRCm39) |
D3507G |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,405,362 (GRCm39) |
K88* |
probably null |
Het |
| Ylpm1 |
C |
A |
12: 85,077,620 (GRCm39) |
H1448Q |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,751,305 (GRCm39) |
K667E |
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 |
|
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'- ACTTGTGGGTGCACAGCTAC -3'
(R):5'- TGCCAGGTTTCTAAGCCAC -3'
Sequencing Primer
(F):5'- ACAGCTACCCTGGGTGTGTTC -3'
(R):5'- GTTTAGACGAACCGTTACAGCTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation