Incidental Mutation 'IGL01906:Ttc39a'
| ID |
179664 |
| 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 # |
IGL01906
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109278591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 82
(M82T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
[ENSMUST00000106619]
[ENSMUST00000124209]
[ENSMUST00000139237]
[ENSMUST00000153315]
|
| AlphaFold |
A2ACP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064129
AA Change: M82T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: M82T
| 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: M84T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: M84T
| 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 benign
Transcript: ENSMUST00000106619
AA Change: M82T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102230
Gene: ENSMUSG00000028555
AA Change: M82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
27 |
143 |
1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124209
AA Change: M56T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555
AA Change: M56T
| 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: M30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121779
Gene: ENSMUSG00000028555
AA Change: M30T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
109 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153315
AA Change: M56T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555
AA Change: M56T
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,538 (GRCm39) |
N502K |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
| Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
| Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,994,861 (GRCm39) |
F248L |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,847,984 (GRCm39) |
V625E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,462,383 (GRCm39) |
E456V |
probably benign |
Het |
| Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
| Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
| Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
| Faim2 |
G |
A |
15: 99,412,314 (GRCm39) |
T140I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
| Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
| Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
| Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
| Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
| Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
| Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02115:Ttc39a
|
APN |
4 |
109,283,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02415:Ttc39a
|
APN |
4 |
109,288,726 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02658:Ttc39a
|
APN |
4 |
109,280,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation