Incidental Mutation 'IGL01555:4833420G17Rik'
ID |
90696 |
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 # |
IGL01555
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119610443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 372
(H372R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000224081]
[ENSMUST00000224312]
[ENSMUST00000225186]
[ENSMUST00000225726]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026519
AA Change: H372R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000026519 Gene: ENSMUSG00000062822 AA Change: H372R
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: ENSMUST00000224081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224312
AA Change: H372R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225186
AA Change: H372R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
AA Change: H372R
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
Arid4a |
C |
T |
12: 71,108,301 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,626,618 (GRCm39) |
V1706A |
probably damaging |
Het |
Boll |
A |
G |
1: 55,344,827 (GRCm39) |
|
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,829,405 (GRCm39) |
M773K |
possibly damaging |
Het |
Dhx9 |
A |
T |
1: 153,335,312 (GRCm39) |
D929E |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,006,478 (GRCm39) |
L775P |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,169,756 (GRCm39) |
V3001D |
probably damaging |
Het |
Kcnh6 |
A |
T |
11: 105,908,445 (GRCm39) |
I354F |
probably damaging |
Het |
Nemp2 |
T |
A |
1: 52,680,202 (GRCm39) |
V142E |
probably damaging |
Het |
Nipal2 |
A |
T |
15: 34,600,264 (GRCm39) |
|
probably benign |
Het |
Otop1 |
A |
G |
5: 38,460,188 (GRCm39) |
Y585C |
probably damaging |
Het |
Peli3 |
T |
C |
19: 4,985,086 (GRCm39) |
T108A |
probably damaging |
Het |
Pramel6 |
T |
C |
2: 87,341,129 (GRCm39) |
|
probably benign |
Het |
Rbfa |
G |
A |
18: 80,241,015 (GRCm39) |
T83I |
possibly damaging |
Het |
Speer1k |
A |
T |
5: 10,999,051 (GRCm39) |
|
probably benign |
Het |
Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
Tll2 |
T |
A |
19: 41,074,805 (GRCm39) |
I920L |
probably benign |
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 |
|
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 |
2013-12-09 |