Incidental Mutation 'IGL01980:Rims4'
| ID |
182723 |
| 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 # |
IGL01980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163701671-163760603 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 163707702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044734]
|
| AlphaFold |
P60191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044734
|
| SMART Domains |
Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
129 |
232 |
1.42e-11 |
SMART |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd60 |
C |
T |
2: 173,412,996 (GRCm39) |
C164Y |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,463 (GRCm39) |
A979V |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,421,393 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,658,184 (GRCm39) |
N676S |
probably damaging |
Het |
| Cpa1 |
T |
C |
6: 30,641,581 (GRCm39) |
F192L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,604,286 (GRCm39) |
|
probably null |
Het |
| Fam185a |
A |
G |
5: 21,664,171 (GRCm39) |
K302E |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,519 (GRCm39) |
K121E |
probably benign |
Het |
| Impg2 |
G |
A |
16: 56,041,890 (GRCm39) |
C178Y |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,967,289 (GRCm39) |
C1698F |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,851 (GRCm39) |
D451G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,121,540 (GRCm39) |
L52Q |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,792,836 (GRCm39) |
S363R |
probably benign |
Het |
| Mtfmt |
A |
G |
9: 65,344,356 (GRCm39) |
Y94C |
probably benign |
Het |
| Myo7b |
G |
A |
18: 32,094,953 (GRCm39) |
L1881F |
possibly damaging |
Het |
| Or51a10 |
A |
T |
7: 103,699,300 (GRCm39) |
M87K |
probably benign |
Het |
| Or6c6 |
G |
T |
10: 129,187,386 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
T |
C |
6: 124,375,339 (GRCm39) |
N524S |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,992 (GRCm39) |
Y206F |
possibly damaging |
Het |
| Polr3e |
A |
G |
7: 120,539,519 (GRCm39) |
|
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,555 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
T |
1: 72,655,679 (GRCm39) |
K653* |
probably null |
Het |
| Stt3b |
C |
T |
9: 115,105,767 (GRCm39) |
|
probably null |
Het |
| Syt8 |
C |
A |
7: 141,993,877 (GRCm39) |
L343M |
probably damaging |
Het |
| Tbc1d23 |
G |
A |
16: 57,009,615 (GRCm39) |
|
probably benign |
Het |
| Tfec |
T |
C |
6: 16,845,465 (GRCm39) |
I65V |
probably damaging |
Het |
| Tmem236 |
A |
T |
2: 14,223,716 (GRCm39) |
Q168H |
probably benign |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
| Ttc1 |
G |
A |
11: 43,621,291 (GRCm39) |
|
probably benign |
Het |
| Tubb4b-ps1 |
A |
C |
5: 7,229,843 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,931,364 (GRCm39) |
C21R |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,913 (GRCm39) |
Q2313K |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,615,966 (GRCm39) |
E119G |
probably damaging |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,475 (GRCm39) |
Q101L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,678 (GRCm39) |
D188G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,290 (GRCm39) |
E557G |
possibly damaging |
Het |
| Zfp738 |
A |
G |
13: 67,818,096 (GRCm39) |
F632L |
possibly damaging |
Het |
|
| Other mutations in Rims4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Rims4
|
APN |
2 |
163,706,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation