Incidental Mutation 'IGL02264:4921504E06Rik'
ID |
286861 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4921504E06Rik
|
Ensembl Gene |
ENSMUSG00000026734 |
Gene Name |
RIKEN cDNA 4921504E06 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL02264
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
19467648-19558721 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 19547180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062060]
|
AlphaFold |
Q8CET2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062060
|
SMART Domains |
Protein: ENSMUSP00000058720 Gene: ENSMUSG00000026734
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
Pfam:DUF4709
|
36 |
145 |
1e-45 |
PFAM |
coiled coil region
|
165 |
257 |
N/A |
INTRINSIC |
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
coiled coil region
|
417 |
463 |
N/A |
INTRINSIC |
Pfam:DUF4724
|
477 |
559 |
3.9e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131199
|
Meta Mutation Damage Score |
0.9755 |
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 |
Abhd17b |
T |
C |
19: 21,655,796 (GRCm39) |
L26P |
probably damaging |
Het |
Abtb1 |
A |
G |
6: 88,813,517 (GRCm39) |
V407A |
probably benign |
Het |
Adamts17 |
C |
A |
7: 66,697,207 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
G |
T |
2: 20,864,850 (GRCm39) |
|
probably null |
Het |
Brwd1 |
T |
C |
16: 95,820,656 (GRCm39) |
D1290G |
probably damaging |
Het |
Btbd6 |
A |
G |
12: 112,940,589 (GRCm39) |
T49A |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,259,699 (GRCm39) |
V702I |
possibly damaging |
Het |
Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
Dclre1a |
T |
A |
19: 56,532,725 (GRCm39) |
N623I |
possibly damaging |
Het |
Dnah9 |
A |
T |
11: 65,971,314 (GRCm39) |
|
probably benign |
Het |
Emc1 |
T |
C |
4: 139,102,775 (GRCm39) |
F978S |
probably damaging |
Het |
Fam185a |
G |
A |
5: 21,685,392 (GRCm39) |
V363I |
possibly damaging |
Het |
Iglc2 |
G |
T |
16: 19,017,397 (GRCm39) |
S69R |
probably damaging |
Het |
Ints5 |
T |
C |
19: 8,873,076 (GRCm39) |
V345A |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,687,569 (GRCm39) |
R2825G |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,137,794 (GRCm39) |
E2870G |
probably damaging |
Het |
Or4c125 |
G |
T |
2: 89,170,028 (GRCm39) |
T206K |
probably benign |
Het |
Or4k41 |
A |
G |
2: 111,280,207 (GRCm39) |
T241A |
probably benign |
Het |
Or5aq7 |
C |
T |
2: 86,937,785 (GRCm39) |
|
probably benign |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Pcsk1 |
C |
A |
13: 75,254,078 (GRCm39) |
T210K |
probably damaging |
Het |
Phaf1 |
C |
T |
8: 105,961,178 (GRCm39) |
A71V |
possibly damaging |
Het |
Slco5a1 |
A |
G |
1: 12,942,219 (GRCm39) |
V809A |
probably benign |
Het |
Synm |
T |
C |
7: 67,384,144 (GRCm39) |
T1173A |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,040,584 (GRCm39) |
I367T |
probably damaging |
Het |
Tmem169 |
T |
A |
1: 72,340,114 (GRCm39) |
Y181* |
probably null |
Het |
Trp73 |
G |
T |
4: 154,148,885 (GRCm39) |
F289L |
probably null |
Het |
Ttll9 |
A |
G |
2: 152,842,055 (GRCm39) |
Y303C |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,182,939 (GRCm39) |
E3577* |
probably null |
Het |
Zbtb3 |
T |
G |
19: 8,780,729 (GRCm39) |
V114G |
probably damaging |
Het |
|
Other mutations in 4921504E06Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:4921504E06Rik
|
APN |
2 |
19,545,182 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01590:4921504E06Rik
|
APN |
2 |
19,482,590 (GRCm39) |
splice site |
probably benign |
|
IGL02591:4921504E06Rik
|
APN |
2 |
19,485,249 (GRCm39) |
missense |
probably benign |
0.26 |
H8786:4921504E06Rik
|
UTSW |
2 |
19,498,905 (GRCm39) |
missense |
probably benign |
0.04 |
R0545:4921504E06Rik
|
UTSW |
2 |
19,547,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0762:4921504E06Rik
|
UTSW |
2 |
19,482,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R1325:4921504E06Rik
|
UTSW |
2 |
19,499,938 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1456:4921504E06Rik
|
UTSW |
2 |
19,485,731 (GRCm39) |
critical splice donor site |
probably null |
|
R2013:4921504E06Rik
|
UTSW |
2 |
19,545,124 (GRCm39) |
missense |
probably benign |
0.01 |
R2089:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:4921504E06Rik
|
UTSW |
2 |
19,485,371 (GRCm39) |
missense |
probably benign |
0.00 |
R3982:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
R3983:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
R4074:4921504E06Rik
|
UTSW |
2 |
19,485,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R4995:4921504E06Rik
|
UTSW |
2 |
19,498,995 (GRCm39) |
nonsense |
probably null |
|
R5303:4921504E06Rik
|
UTSW |
2 |
19,521,110 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5308:4921504E06Rik
|
UTSW |
2 |
19,528,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R6227:4921504E06Rik
|
UTSW |
2 |
19,558,581 (GRCm39) |
splice site |
probably null |
|
R6253:4921504E06Rik
|
UTSW |
2 |
19,528,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6268:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
R6496:4921504E06Rik
|
UTSW |
2 |
19,545,217 (GRCm39) |
missense |
probably benign |
0.17 |
R7196:4921504E06Rik
|
UTSW |
2 |
19,498,806 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
R8146:4921504E06Rik
|
UTSW |
2 |
19,498,814 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8150:4921504E06Rik
|
UTSW |
2 |
19,538,635 (GRCm39) |
missense |
probably benign |
0.10 |
R8534:4921504E06Rik
|
UTSW |
2 |
19,545,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R9067:4921504E06Rik
|
UTSW |
2 |
19,522,493 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:4921504E06Rik
|
UTSW |
2 |
19,485,343 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2015-04-16 |