Incidental Mutation 'IGL01802:Ttc39a'
| ID |
155547 |
| 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 # |
IGL01802
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 109290281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 330
(Y330*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
[ENSMUST00000124209]
[ENSMUST00000153315]
|
| AlphaFold |
A2ACP1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064129
AA Change: Y328*
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: Y328*
| 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 null
Transcript: ENSMUST00000106618
AA Change: Y330*
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: Y330*
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
| Ark2c |
A |
T |
18: 77,550,610 (GRCm39) |
L106Q |
probably damaging |
Het |
| Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
| Crtc3 |
A |
T |
7: 80,254,116 (GRCm39) |
C244* |
probably null |
Het |
| Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,092 (GRCm39) |
K547E |
probably damaging |
Het |
| Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
| Mmp8 |
T |
G |
9: 7,567,441 (GRCm39) |
F434V |
probably benign |
Het |
| Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
| Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,488 (GRCm39) |
S299G |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
| Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
| Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
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 |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation