Incidental Mutation 'IGL03281:Ttc39a'
| ID |
415602 |
| 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 # |
IGL03281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109290219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 310
(Q310K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
[ENSMUST00000124209]
[ENSMUST00000153315]
|
| AlphaFold |
A2ACP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064129
AA Change: Q308K
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: Q308K
| 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 |
possibly damaging
Transcript: ENSMUST00000106618
AA Change: Q310K
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: Q310K
| 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: ENSMUST00000124209
|
| SMART Domains |
Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
137 |
6.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153315
|
| SMART Domains |
Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,601 (GRCm39) |
R361H |
probably benign |
Het |
| Abcd2 |
G |
T |
15: 91,035,876 (GRCm39) |
T663K |
probably damaging |
Het |
| Btbd8 |
A |
T |
5: 107,651,742 (GRCm39) |
T212S |
probably benign |
Het |
| Bud23 |
C |
T |
5: 135,092,741 (GRCm39) |
R28H |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,320,256 (GRCm39) |
Y852C |
probably damaging |
Het |
| Dll1 |
C |
A |
17: 15,593,866 (GRCm39) |
R167L |
probably benign |
Het |
| Hmgxb4 |
A |
G |
8: 75,750,790 (GRCm39) |
T538A |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,526 (GRCm39) |
V355A |
possibly damaging |
Het |
| Hrnr |
A |
T |
3: 93,230,158 (GRCm39) |
E132V |
probably benign |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,571 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,382,105 (GRCm39) |
Q485L |
probably null |
Het |
| Lrp1b |
T |
A |
2: 40,615,526 (GRCm39) |
M3626L |
probably benign |
Het |
| Magea6 |
G |
T |
X: 153,707,623 (GRCm39) |
C144* |
probably null |
Het |
| Map1a |
G |
T |
2: 121,135,541 (GRCm39) |
R1881L |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,128 (GRCm39) |
Y636F |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,272 (GRCm39) |
F59I |
probably benign |
Het |
| Prg4 |
A |
G |
1: 150,325,839 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
G |
1: 119,587,642 (GRCm39) |
Q900H |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,428 (GRCm39) |
|
probably null |
Het |
| Rasgrp4 |
C |
T |
7: 28,845,450 (GRCm39) |
A381V |
possibly damaging |
Het |
| Selenbp1 |
A |
T |
3: 94,844,621 (GRCm39) |
K93* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,524,415 (GRCm39) |
K855N |
unknown |
Het |
| Tssk4 |
T |
C |
14: 55,887,885 (GRCm39) |
V27A |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,766,784 (GRCm39) |
V276I |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,603 (GRCm39) |
L228F |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation