Incidental Mutation 'IGL00309:4933430I17Rik'
| ID |
6659 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4933430I17Rik
|
| Ensembl Gene |
ENSMUSG00000058046 |
| Gene Name |
RIKEN cDNA 4933430I17 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62443606-62466230 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 62450903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062145]
|
| AlphaFold |
Q8BHW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062145
|
| SMART Domains |
Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4647
|
22 |
481 |
7.3e-182 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,051,342 (GRCm39) |
D118V |
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,912,598 (GRCm39) |
I1241N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,608 (GRCm39) |
D126G |
probably benign |
Het |
| BB014433 |
G |
T |
8: 15,092,510 (GRCm39) |
N114K |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,322 (GRCm39) |
V241E |
probably benign |
Het |
| Ccnjl |
A |
T |
11: 43,474,023 (GRCm39) |
K199N |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,000,190 (GRCm39) |
T130A |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,145,270 (GRCm39) |
N395K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,199,733 (GRCm39) |
V67A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,085,081 (GRCm39) |
R806H |
probably damaging |
Het |
| Extl3 |
G |
A |
14: 65,314,438 (GRCm39) |
P248L |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,555 (GRCm39) |
D205G |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,767,555 (GRCm39) |
V98L |
possibly damaging |
Het |
| Gpr6 |
C |
T |
10: 40,946,812 (GRCm39) |
A257T |
probably damaging |
Het |
| Mex3c |
C |
T |
18: 73,722,960 (GRCm39) |
T351M |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,636 (GRCm39) |
S205T |
probably benign |
Het |
| Or10g3b |
A |
G |
14: 52,587,167 (GRCm39) |
V112A |
probably benign |
Het |
| Or5ar1 |
A |
T |
2: 85,671,706 (GRCm39) |
V143D |
probably benign |
Het |
| Or5g26 |
A |
T |
2: 85,494,700 (GRCm39) |
V26D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,451,743 (GRCm39) |
Y412H |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,309,172 (GRCm39) |
V75E |
probably benign |
Het |
| Sv2c |
A |
G |
13: 96,184,937 (GRCm39) |
C247R |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,728 (GRCm39) |
V403E |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,140,746 (GRCm39) |
V202A |
probably damaging |
Het |
| Zscan25 |
A |
G |
5: 145,220,559 (GRCm39) |
E118G |
probably damaging |
Het |
|
| Other mutations in 4933430I17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:4933430I17Rik
|
APN |
4 |
62,461,981 (GRCm39) |
splice site |
probably null |
|
|
IGL01526:4933430I17Rik
|
APN |
4 |
62,450,858 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02152:4933430I17Rik
|
APN |
4 |
62,460,991 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03153:4933430I17Rik
|
APN |
4 |
62,465,563 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0281:4933430I17Rik
|
UTSW |
4 |
62,464,304 (GRCm39) |
nonsense |
probably null |
|
|
R0436:4933430I17Rik
|
UTSW |
4 |
62,461,682 (GRCm39) |
splice site |
probably benign |
|
|
R1459:4933430I17Rik
|
UTSW |
4 |
62,450,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1807:4933430I17Rik
|
UTSW |
4 |
62,460,993 (GRCm39) |
nonsense |
probably null |
|
|
R1930:4933430I17Rik
|
UTSW |
4 |
62,450,519 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1958:4933430I17Rik
|
UTSW |
4 |
62,457,146 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2118:4933430I17Rik
|
UTSW |
4 |
62,457,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2119:4933430I17Rik
|
UTSW |
4 |
62,457,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2124:4933430I17Rik
|
UTSW |
4 |
62,457,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4323:4933430I17Rik
|
UTSW |
4 |
62,465,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4592:4933430I17Rik
|
UTSW |
4 |
62,457,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5708:4933430I17Rik
|
UTSW |
4 |
62,444,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6576:4933430I17Rik
|
UTSW |
4 |
62,450,842 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7506:4933430I17Rik
|
UTSW |
4 |
62,450,498 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7953:4933430I17Rik
|
UTSW |
4 |
62,450,896 (GRCm39) |
missense |
probably null |
0.71 |
|
R8329:4933430I17Rik
|
UTSW |
4 |
62,461,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8348:4933430I17Rik
|
UTSW |
4 |
62,461,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8448:4933430I17Rik
|
UTSW |
4 |
62,461,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8699:4933430I17Rik
|
UTSW |
4 |
62,450,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9516:4933430I17Rik
|
UTSW |
4 |
62,460,916 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation