Incidental Mutation 'IGL01627:Rims4'
ID |
92805 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rims4
|
Ensembl Gene |
ENSMUSG00000035226 |
Gene Name |
regulating synaptic membrane exocytosis 4 |
Synonyms |
Rim4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
IGL01627
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
163701671-163760603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 163706022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 204
(Y204C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044734]
[ENSMUST00000109396]
|
AlphaFold |
P60191 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044734
AA Change: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045637 Gene: ENSMUSG00000035226 AA Change: Y204C
Domain | Start | End | E-Value | Type |
C2
|
129 |
232 |
1.42e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109396
|
SMART Domains |
Protein: ENSMUSP00000105023 Gene: ENSMUSG00000035238
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
62 |
134 |
5.2e-21 |
PFAM |
Pfam:Ion_trans_2
|
165 |
248 |
1.6e-17 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induec allele exhibit reduced body weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
Het |
|
Other mutations in Rims4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01980:Rims4
|
APN |
2 |
163,707,702 (GRCm39) |
splice site |
probably benign |
|
demure
|
UTSW |
2 |
163,706,040 (GRCm39) |
missense |
probably damaging |
0.99 |
diminutive
|
UTSW |
2 |
163,706,785 (GRCm39) |
critical splice donor site |
probably null |
|
R0115:Rims4
|
UTSW |
2 |
163,706,040 (GRCm39) |
missense |
probably damaging |
0.99 |
R0152:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0153:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0173:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0238:Rims4
|
UTSW |
2 |
163,705,945 (GRCm39) |
missense |
probably benign |
0.03 |
R0238:Rims4
|
UTSW |
2 |
163,705,945 (GRCm39) |
missense |
probably benign |
0.03 |
R0481:Rims4
|
UTSW |
2 |
163,706,040 (GRCm39) |
missense |
probably damaging |
0.99 |
R0702:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0735:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0973:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0973:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0974:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1013:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1014:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1017:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1104:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1209:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1401:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1554:Rims4
|
UTSW |
2 |
163,721,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R1618:Rims4
|
UTSW |
2 |
163,705,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2104:Rims4
|
UTSW |
2 |
163,706,785 (GRCm39) |
critical splice donor site |
probably null |
|
R2171:Rims4
|
UTSW |
2 |
163,706,046 (GRCm39) |
splice site |
probably null |
|
R3611:Rims4
|
UTSW |
2 |
163,721,126 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3735:Rims4
|
UTSW |
2 |
163,705,905 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3836:Rims4
|
UTSW |
2 |
163,760,573 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4685:Rims4
|
UTSW |
2 |
163,706,914 (GRCm39) |
nonsense |
probably null |
|
R4849:Rims4
|
UTSW |
2 |
163,707,463 (GRCm39) |
missense |
probably benign |
0.11 |
R4873:Rims4
|
UTSW |
2 |
163,707,443 (GRCm39) |
missense |
probably null |
0.00 |
R4875:Rims4
|
UTSW |
2 |
163,707,443 (GRCm39) |
missense |
probably null |
0.00 |
R5337:Rims4
|
UTSW |
2 |
163,707,763 (GRCm39) |
missense |
probably benign |
0.00 |
R5415:Rims4
|
UTSW |
2 |
163,760,596 (GRCm39) |
missense |
probably benign |
0.26 |
R5646:Rims4
|
UTSW |
2 |
163,705,937 (GRCm39) |
nonsense |
probably null |
|
R6487:Rims4
|
UTSW |
2 |
163,706,817 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7213:Rims4
|
UTSW |
2 |
163,705,981 (GRCm39) |
missense |
probably benign |
0.00 |
R7814:Rims4
|
UTSW |
2 |
163,760,548 (GRCm39) |
missense |
probably benign |
0.05 |
R7849:Rims4
|
UTSW |
2 |
163,705,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |