Incidental Mutation 'IGL01086:Ttc13'
ID |
51740 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc13
|
Ensembl Gene |
ENSMUSG00000037300 |
Gene Name |
tetratricopeptide repeat domain 13 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01086
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125402085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 686
(I686T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
AlphaFold |
A0A1L1SSC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041614
AA Change: I558T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038484 Gene: ENSMUSG00000037300 AA Change: I558T
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 |
possibly damaging
Transcript: ENSMUST00000117624
AA Change: I580T
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114043 Gene: ENSMUSG00000037300 AA Change: I580T
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 |
possibly damaging
Transcript: ENSMUST00000118134
AA Change: I634T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113383 Gene: ENSMUSG00000037300 AA Change: I634T
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: ENSMUST00000128390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130344
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140350
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214828
AA Change: I686T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: I557T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(3) : Gene trapped(3) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Aim2 |
A |
G |
1: 173,282,999 (GRCm39) |
Y27C |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,308,114 (GRCm39) |
E127G |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
Poteg |
T |
A |
8: 27,963,648 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
Serpina11 |
T |
A |
12: 103,952,329 (GRCm39) |
D147V |
probably damaging |
Het |
Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
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 |
|
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 |
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 |
|
Posted On |
2013-06-21 |