Incidental Mutation 'IGL01531:4833420G17Rik'
| ID |
89778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4833420G17Rik
|
| Ensembl Gene |
ENSMUSG00000062822 |
| Gene Name |
RIKEN cDNA 4833420G17 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 119603494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000026519]
[ENSMUST00000026519]
[ENSMUST00000026519]
[ENSMUST00000224081]
[ENSMUST00000224312]
[ENSMUST00000225186]
[ENSMUST00000225726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026519
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026519
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026519
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026519
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224081
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224312
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,465,069 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,119,414 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Blm |
A |
G |
7: 80,123,819 (GRCm39) |
Y1004H |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,810,231 (GRCm39) |
I278L |
probably benign |
Het |
| Ddx18 |
T |
A |
1: 121,492,315 (GRCm39) |
T131S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,374 (GRCm39) |
T120A |
probably damaging |
Het |
| Dnaja3 |
T |
G |
16: 4,512,268 (GRCm39) |
V224G |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,041,677 (GRCm39) |
R454* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,071,111 (GRCm39) |
T3083S |
probably benign |
Het |
| Eea1 |
C |
A |
10: 95,867,539 (GRCm39) |
T1045K |
probably damaging |
Het |
| Gpnmb |
T |
A |
6: 49,024,392 (GRCm39) |
|
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,548 (GRCm39) |
E108G |
possibly damaging |
Het |
| Il33 |
C |
A |
19: 29,929,381 (GRCm39) |
Q35K |
possibly damaging |
Het |
| Il6ra |
G |
A |
3: 89,793,350 (GRCm39) |
L267F |
probably damaging |
Het |
| Impact |
C |
T |
18: 13,109,076 (GRCm39) |
S69F |
probably benign |
Het |
| Klk1b9 |
G |
A |
7: 43,441,675 (GRCm39) |
G39D |
probably damaging |
Het |
| Ldah |
A |
G |
12: 8,277,337 (GRCm39) |
D91G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,341,898 (GRCm39) |
L1837P |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,938,555 (GRCm39) |
H1204Q |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,063,655 (GRCm39) |
E21G |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,407 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,321 (GRCm39) |
N42I |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 13,066,638 (GRCm39) |
K40N |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,168 (GRCm39) |
V648A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,367,722 (GRCm39) |
K654E |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,047 (GRCm39) |
I309V |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,722,310 (GRCm39) |
L519P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,504,085 (GRCm39) |
I211V |
possibly damaging |
Het |
| Stau2 |
T |
C |
1: 16,415,922 (GRCm39) |
*480W |
probably null |
Het |
| Svopl |
T |
C |
6: 38,003,876 (GRCm39) |
|
probably benign |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,422,874 (GRCm39) |
T2713I |
unknown |
Het |
|
| Other mutations in 4833420G17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:4833420G17Rik
|
APN |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02395:4833420G17Rik
|
APN |
13 |
119,617,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:4833420G17Rik
|
APN |
13 |
119,611,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02904:4833420G17Rik
|
APN |
13 |
119,620,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:4833420G17Rik
|
APN |
13 |
119,617,563 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0410:4833420G17Rik
|
UTSW |
13 |
119,606,268 (GRCm39) |
missense |
probably benign |
|
|
R0437:4833420G17Rik
|
UTSW |
13 |
119,606,631 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0513:4833420G17Rik
|
UTSW |
13 |
119,606,195 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0569:4833420G17Rik
|
UTSW |
13 |
119,621,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0788:4833420G17Rik
|
UTSW |
13 |
119,610,468 (GRCm39) |
nonsense |
probably null |
|
|
R1495:4833420G17Rik
|
UTSW |
13 |
119,614,356 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1617:4833420G17Rik
|
UTSW |
13 |
119,603,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:4833420G17Rik
|
UTSW |
13 |
119,606,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1914:4833420G17Rik
|
UTSW |
13 |
119,622,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2169:4833420G17Rik
|
UTSW |
13 |
119,622,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4238:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4240:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:4833420G17Rik
|
UTSW |
13 |
119,606,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4469:4833420G17Rik
|
UTSW |
13 |
119,606,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:4833420G17Rik
|
UTSW |
13 |
119,611,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4964:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R4966:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R5093:4833420G17Rik
|
UTSW |
13 |
119,610,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5384:4833420G17Rik
|
UTSW |
13 |
119,606,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6255:4833420G17Rik
|
UTSW |
13 |
119,602,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6491:4833420G17Rik
|
UTSW |
13 |
119,612,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:4833420G17Rik
|
UTSW |
13 |
119,622,613 (GRCm39) |
splice site |
probably null |
|
|
R7023:4833420G17Rik
|
UTSW |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7574:4833420G17Rik
|
UTSW |
13 |
119,606,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9218:4833420G17Rik
|
UTSW |
13 |
119,610,460 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9508:4833420G17Rik
|
UTSW |
13 |
119,617,484 (GRCm39) |
missense |
|
|
|
R9521:4833420G17Rik
|
UTSW |
13 |
119,608,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9567:4833420G17Rik
|
UTSW |
13 |
119,602,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:4833420G17Rik
|
UTSW |
13 |
119,615,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
Z1177:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation