Incidental Mutation 'IGL03126:4833420G17Rik'
| ID |
410166 |
| 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 # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119617563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 562
(N562S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000224312]
[ENSMUST00000225186]
[ENSMUST00000225726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026519
AA Change: N562S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: N562S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048965
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224312
AA Change: N562S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225186
AA Change: N562S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
| Other mutations in 4833420G17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:4833420G17Rik
|
APN |
13 |
119,603,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation