Incidental Mutation 'IGL00326:4933430I17Rik'
| ID |
6658 |
| 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 # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62443606-62466230 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 62461981 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 null
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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
| Other mutations in 4933430I17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:4933430I17Rik
|
APN |
4 |
62,450,903 (GRCm39) |
splice site |
probably benign |
|
|
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