Incidental Mutation 'IGL00870:Ttc39a'
| ID |
14633 |
| 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 # |
IGL00870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 109299542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
|
| AlphaFold |
A2ACP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064129
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
280 |
313 |
7.69e1 |
SMART |
|
TPR
|
470 |
503 |
6.57e1 |
SMART |
|
TPR
|
511 |
544 |
1.42e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Asb5 |
T |
C |
8: 55,036,695 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,031,695 (GRCm39) |
I569N |
probably damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,517,014 (GRCm39) |
|
probably null |
Het |
| Dlat |
A |
G |
9: 50,562,169 (GRCm39) |
L285P |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,716,272 (GRCm39) |
|
probably benign |
Het |
| Ears2 |
A |
T |
7: 121,654,899 (GRCm39) |
L123Q |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,519,983 (GRCm39) |
V212A |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,764,492 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,097,437 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Krtap20-2 |
G |
A |
16: 89,002,875 (GRCm39) |
G25D |
unknown |
Het |
| Lrif1 |
T |
C |
3: 106,641,957 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
G |
13: 100,288,568 (GRCm39) |
|
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,036 (GRCm39) |
I173F |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,131,300 (GRCm39) |
L396Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,589,997 (GRCm39) |
R766W |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,641,614 (GRCm39) |
I275F |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,301 (GRCm39) |
F357S |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,391 (GRCm39) |
V327A |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,800 (GRCm39) |
I181V |
probably damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,480 (GRCm39) |
D25G |
probably benign |
Het |
| Strada |
A |
G |
11: 106,062,083 (GRCm39) |
L82P |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,761,318 (GRCm39) |
Y1079* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,870,167 (GRCm39) |
T209A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,580 (GRCm39) |
Q836* |
probably null |
Het |
| Toporsl |
T |
C |
4: 52,610,172 (GRCm39) |
S22P |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,078 (GRCm39) |
|
probably null |
Het |
| Vangl1 |
T |
C |
3: 102,096,756 (GRCm39) |
D60G |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,098 (GRCm39) |
M86L |
probably benign |
Het |
| Vmn1r220 |
C |
T |
13: 23,368,647 (GRCm39) |
M16I |
probably null |
Het |
|
| Other mutations in Ttc39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation