Incidental Mutation 'IGL01511:Ttc13'
| ID |
89216 |
| 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 # |
IGL01511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125403110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 672
(D672G)
|
| 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: D544G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: D544G
| 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: D566G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: D566G
| 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: D620G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: D620G
| 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: D672G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: D543G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,135,136 (GRCm39) |
D216E |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,836,753 (GRCm39) |
L669F |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,324,456 (GRCm39) |
G666D |
probably damaging |
Het |
| Adat2 |
T |
G |
10: 13,435,982 (GRCm39) |
M109R |
probably null |
Het |
| Atf3 |
T |
A |
1: 190,903,693 (GRCm39) |
T178S |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,933,998 (GRCm39) |
Y2522* |
probably null |
Het |
| Ccr8 |
G |
A |
9: 119,923,691 (GRCm39) |
G269R |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chrna4 |
C |
T |
2: 180,670,461 (GRCm39) |
V432I |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,722 (GRCm39) |
V65A |
probably benign |
Het |
| Cyp2j13 |
A |
G |
4: 95,965,552 (GRCm39) |
F52L |
possibly damaging |
Het |
| Desi1 |
T |
A |
15: 81,886,789 (GRCm39) |
K45* |
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,718,457 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,791,093 (GRCm39) |
M197I |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,458,754 (GRCm39) |
L3795V |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,905,558 (GRCm39) |
D741G |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,135 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
A |
T |
9: 109,517,889 (GRCm39) |
S366T |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,293 (GRCm39) |
Y125C |
unknown |
Het |
| Gcsam |
T |
C |
16: 45,436,315 (GRCm39) |
Y11H |
probably damaging |
Het |
| Gucy2f |
G |
T |
X: 140,944,730 (GRCm39) |
D410E |
probably damaging |
Het |
| Hdac3 |
C |
T |
18: 38,085,648 (GRCm39) |
A53T |
probably benign |
Het |
| Lamp2 |
A |
G |
X: 37,520,752 (GRCm39) |
L244P |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,915,198 (GRCm39) |
F1630Y |
possibly damaging |
Het |
| M1ap |
C |
A |
6: 83,005,393 (GRCm39) |
D434E |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,308,888 (GRCm39) |
Y378H |
probably damaging |
Het |
| Mvb12a |
T |
A |
8: 71,997,946 (GRCm39) |
V120E |
probably damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,458,302 (GRCm39) |
W2063G |
probably damaging |
Het |
| Neto1 |
A |
C |
18: 86,414,033 (GRCm39) |
H9P |
possibly damaging |
Het |
| Nmu |
C |
T |
5: 76,488,668 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,804,321 (GRCm39) |
|
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,351,043 (GRCm39) |
E179G |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,130,217 (GRCm39) |
H533R |
possibly damaging |
Het |
| Pikfyve |
G |
T |
1: 65,298,028 (GRCm39) |
E1586* |
probably null |
Het |
| Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
| Plxna3 |
A |
G |
X: 73,378,914 (GRCm39) |
E686G |
probably damaging |
Het |
| Polrmt |
T |
A |
10: 79,575,985 (GRCm39) |
Y586F |
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,748,218 (GRCm39) |
F225I |
probably damaging |
Het |
| Prcc |
T |
G |
3: 87,779,548 (GRCm39) |
D162A |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 106,346,562 (GRCm39) |
|
probably benign |
Het |
| Rnaseh1 |
A |
G |
12: 28,709,008 (GRCm39) |
H263R |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 128,974,211 (GRCm39) |
S490R |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,605,088 (GRCm39) |
T23S |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,121 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,536,334 (GRCm39) |
M434V |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 151,846,564 (GRCm39) |
T175I |
probably benign |
Het |
| Slc5a2 |
C |
T |
7: 127,869,794 (GRCm39) |
T409M |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,400,892 (GRCm39) |
S108P |
probably benign |
Het |
| Thnsl2 |
T |
G |
6: 71,116,777 (GRCm39) |
Q125P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,584,089 (GRCm39) |
H14013N |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,152,629 (GRCm39) |
F792L |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,439,430 (GRCm39) |
V669A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,314 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,384 (GRCm39) |
V104D |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,831,520 (GRCm39) |
|
probably null |
Het |
| Zscan5b |
A |
C |
7: 6,234,421 (GRCm39) |
H149P |
probably benign |
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 |
|
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 |
2013-12-03 |
Incidental Mutation