Incidental Mutation 'IGL02163:4930447A16Rik'
ID |
282550 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4930447A16Rik
|
Ensembl Gene |
ENSMUSG00000022288 |
Gene Name |
RIKEN cDNA 4930447A16 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02163
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
37425835-37440897 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 37439852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022897]
[ENSMUST00000090150]
[ENSMUST00000116445]
[ENSMUST00000119730]
[ENSMUST00000120746]
[ENSMUST00000153775]
[ENSMUST00000150453]
[ENSMUST00000168992]
[ENSMUST00000148652]
|
AlphaFold |
Q9D5F6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022897
AA Change: S117P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090150
|
SMART Domains |
Protein: ENSMUSP00000087611 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116445
|
SMART Domains |
Protein: ENSMUSP00000112146 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119730
|
SMART Domains |
Protein: ENSMUSP00000113858 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120746
|
SMART Domains |
Protein: ENSMUSP00000112898 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145909
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153775
|
SMART Domains |
Protein: ENSMUSP00000114576 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
174 |
1.4e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150453
|
SMART Domains |
Protein: ENSMUSP00000119726 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
3 |
88 |
3.9e-8 |
PFAM |
Pfam:EF-hand_8
|
39 |
88 |
8.2e-8 |
PFAM |
Pfam:EF-hand_1
|
64 |
88 |
5e-8 |
PFAM |
Pfam:EF-hand_6
|
64 |
88 |
1.6e-6 |
PFAM |
Pfam:EF-hand_5
|
65 |
86 |
2.5e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168992
|
SMART Domains |
Protein: ENSMUSP00000130126 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148652
|
SMART Domains |
Protein: ENSMUSP00000121460 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
Pfam:EF-hand_5
|
149 |
163 |
1.2e-4 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armh4 |
A |
G |
14: 50,011,614 (GRCm39) |
V31A |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cap1 |
C |
T |
4: 122,756,209 (GRCm39) |
V396I |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,916,477 (GRCm39) |
V411A |
probably benign |
Het |
Cyp2w1 |
T |
A |
5: 139,341,920 (GRCm39) |
M111K |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,559,315 (GRCm39) |
V687A |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,523,230 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,595,859 (GRCm39) |
F342S |
possibly damaging |
Het |
Foxred1 |
A |
T |
9: 35,117,192 (GRCm39) |
L313H |
probably damaging |
Het |
Gm38392 |
G |
A |
3: 88,152,887 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,733,109 (GRCm39) |
|
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,060,900 (GRCm39) |
M591K |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,344,262 (GRCm39) |
S217C |
possibly damaging |
Het |
Or10al7 |
T |
C |
17: 38,365,641 (GRCm39) |
H281R |
probably benign |
Het |
Or1e1 |
T |
A |
11: 73,245,320 (GRCm39) |
V247E |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,679,871 (GRCm39) |
F526L |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,898,223 (GRCm39) |
S955C |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,879,800 (GRCm39) |
S307R |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,014,119 (GRCm39) |
P456S |
possibly damaging |
Het |
Rgs8 |
C |
A |
1: 153,547,511 (GRCm39) |
T47K |
possibly damaging |
Het |
Samd9l |
T |
A |
6: 3,374,246 (GRCm39) |
N1005I |
possibly damaging |
Het |
Tmc4 |
A |
G |
7: 3,669,824 (GRCm39) |
L20P |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,779,901 (GRCm39) |
Q403* |
probably null |
Het |
Zbtb43 |
T |
C |
2: 33,343,795 (GRCm39) |
R477G |
possibly damaging |
Het |
|
Other mutations in 4930447A16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02639:4930447A16Rik
|
APN |
15 |
37,430,048 (GRCm39) |
nonsense |
probably null |
|
R0569:4930447A16Rik
|
UTSW |
15 |
37,425,863 (GRCm39) |
start codon destroyed |
probably null |
|
R1596:4930447A16Rik
|
UTSW |
15 |
37,426,018 (GRCm39) |
intron |
probably benign |
|
R1728:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
R1729:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
R1967:4930447A16Rik
|
UTSW |
15 |
37,439,842 (GRCm39) |
intron |
probably benign |
|
R2018:4930447A16Rik
|
UTSW |
15 |
37,440,742 (GRCm39) |
intron |
probably benign |
|
R4811:4930447A16Rik
|
UTSW |
15 |
37,425,952 (GRCm39) |
intron |
probably benign |
|
R5760:4930447A16Rik
|
UTSW |
15 |
37,439,835 (GRCm39) |
intron |
probably benign |
|
R6572:4930447A16Rik
|
UTSW |
15 |
37,425,961 (GRCm39) |
nonsense |
probably null |
|
R6604:4930447A16Rik
|
UTSW |
15 |
37,439,823 (GRCm39) |
intron |
probably benign |
|
R8544:4930447A16Rik
|
UTSW |
15 |
37,425,979 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |