Incidental Mutation 'IGL02658:Ttc39a'
| ID |
302431 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc39a
|
| Ensembl Gene |
ENSMUSG00000028555 |
| Gene Name |
tetratricopeptide repeat domain 39A |
| Synonyms |
4922503N01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109280090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
[ENSMUST00000106619]
[ENSMUST00000124209]
[ENSMUST00000139237]
[ENSMUST00000153315]
|
| AlphaFold |
A2ACP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064129
AA Change: V124A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
278 |
311 |
7.69e1 |
SMART |
|
TPR
|
468 |
501 |
6.57e1 |
SMART |
|
TPR
|
509 |
542 |
1.42e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106618
AA Change: V126A
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
280 |
313 |
7.69e1 |
SMART |
|
TPR
|
470 |
503 |
6.57e1 |
SMART |
|
TPR
|
511 |
544 |
1.42e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106619
AA Change: V124A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102230
Gene: ENSMUSG00000028555
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
27 |
143 |
1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124209
AA Change: V98A
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555
AA Change: V98A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
137 |
6.6e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139237
AA Change: V72A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121779
Gene: ENSMUSG00000028555
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
109 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150909
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153315
AA Change: V98A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555
AA Change: V98A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
160 |
2.6e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,843,386 (GRCm39) |
Y946F |
probably benign |
Het |
| Abcb4 |
T |
G |
5: 8,984,240 (GRCm39) |
W657G |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,088,279 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,124,047 (GRCm39) |
V351A |
probably benign |
Het |
| Bpifb9b |
A |
C |
2: 154,153,201 (GRCm39) |
Y89S |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,223,083 (GRCm39) |
C47Y |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,445,050 (GRCm39) |
H344Y |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,957,807 (GRCm39) |
T481A |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,073,072 (GRCm39) |
D264V |
probably damaging |
Het |
| Dph1 |
C |
A |
11: 75,071,461 (GRCm39) |
L311F |
probably benign |
Het |
| Eif3l |
A |
G |
15: 78,961,142 (GRCm39) |
D65G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 88,976,146 (GRCm39) |
F3Y |
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,766,748 (GRCm39) |
T770S |
unknown |
Het |
| Hydin |
A |
T |
8: 111,139,908 (GRCm39) |
I726F |
possibly damaging |
Het |
| Klf2 |
A |
G |
8: 73,072,940 (GRCm39) |
I7V |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,212,662 (GRCm39) |
L633H |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,893,313 (GRCm39) |
D206G |
probably benign |
Het |
| Nlrp4a |
T |
G |
7: 26,149,138 (GRCm39) |
D248E |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,746 (GRCm39) |
I429T |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,072 (GRCm39) |
C95S |
probably damaging |
Het |
| Or2p2 |
G |
A |
13: 21,256,982 (GRCm39) |
T163I |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,732 (GRCm38) |
M117L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,537 (GRCm39) |
M278T |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,237 (GRCm39) |
S65P |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,296,254 (GRCm39) |
E1322G |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,792,689 (GRCm39) |
F217I |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,162,346 (GRCm39) |
I1389N |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,091 (GRCm39) |
Y239C |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,458,996 (GRCm39) |
E126G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,551,141 (GRCm39) |
V46E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,663,240 (GRCm39) |
H320N |
probably damaging |
Het |
| Sdhaf3 |
A |
G |
6: 7,038,992 (GRCm39) |
M105V |
probably damaging |
Het |
| Slc22a26 |
T |
A |
19: 7,765,613 (GRCm39) |
N345I |
probably benign |
Het |
| Sncaip |
T |
C |
18: 53,028,027 (GRCm39) |
I412T |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,178,530 (GRCm39) |
I864N |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,212,157 (GRCm39) |
Q1062* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Szrd1 |
A |
G |
4: 140,867,057 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
A |
15: 102,016,231 (GRCm39) |
|
probably benign |
Het |
| Trcg1 |
C |
A |
9: 57,149,511 (GRCm39) |
S361* |
probably null |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,964,023 (GRCm39) |
I633T |
probably damaging |
Het |
| Zfp691 |
A |
G |
4: 119,027,704 (GRCm39) |
F176S |
probably damaging |
Het |
|
| Other mutations in Ttc39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Ttc39a
|
APN |
4 |
109,299,542 (GRCm39) |
splice site |
probably benign |
|
|
IGL01143:Ttc39a
|
APN |
4 |
109,300,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01802:Ttc39a
|
APN |
4 |
109,290,281 (GRCm39) |
nonsense |
probably null |
|
|
IGL01906:Ttc39a
|
APN |
4 |
109,278,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02115:Ttc39a
|
APN |
4 |
109,283,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02415:Ttc39a
|
APN |
4 |
109,288,726 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02728:Ttc39a
|
APN |
4 |
109,299,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03281:Ttc39a
|
APN |
4 |
109,290,219 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0030:Ttc39a
|
UTSW |
4 |
109,280,170 (GRCm39) |
missense |
probably benign |
|
|
R0103:Ttc39a
|
UTSW |
4 |
109,278,650 (GRCm39) |
splice site |
probably null |
|
|
R0194:Ttc39a
|
UTSW |
4 |
109,301,376 (GRCm39) |
missense |
probably benign |
|
|
R0561:Ttc39a
|
UTSW |
4 |
109,297,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Ttc39a
|
UTSW |
4 |
109,283,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Ttc39a
|
UTSW |
4 |
109,299,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Ttc39a
|
UTSW |
4 |
109,288,785 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2473:Ttc39a
|
UTSW |
4 |
109,299,436 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4449:Ttc39a
|
UTSW |
4 |
109,299,500 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4809:Ttc39a
|
UTSW |
4 |
109,273,218 (GRCm39) |
nonsense |
probably null |
|
|
R5266:Ttc39a
|
UTSW |
4 |
109,279,701 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5590:Ttc39a
|
UTSW |
4 |
109,290,184 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5911:Ttc39a
|
UTSW |
4 |
109,280,168 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5930:Ttc39a
|
UTSW |
4 |
109,288,075 (GRCm39) |
missense |
probably benign |
|
|
R7058:Ttc39a
|
UTSW |
4 |
109,288,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Ttc39a
|
UTSW |
4 |
109,288,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7791:Ttc39a
|
UTSW |
4 |
109,283,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Ttc39a
|
UTSW |
4 |
109,279,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8687:Ttc39a
|
UTSW |
4 |
109,288,776 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8723:Ttc39a
|
UTSW |
4 |
109,300,700 (GRCm39) |
splice site |
probably benign |
|
|
R9037:Ttc39a
|
UTSW |
4 |
109,299,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Ttc39a
|
UTSW |
4 |
109,278,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0013:Ttc39a
|
UTSW |
4 |
109,290,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Ttc39a
|
UTSW |
4 |
109,288,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation