Incidental Mutation 'R6487:Rims4'
ID |
517469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims4
|
Ensembl Gene |
ENSMUSG00000035226 |
Gene Name |
regulating synaptic membrane exocytosis 4 |
Synonyms |
Rim4 |
MMRRC Submission |
044619-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R6487 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
163701671-163760603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 163706817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 187
(F187Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044734]
|
AlphaFold |
P60191 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044734
AA Change: F187Y
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045637 Gene: ENSMUSG00000035226 AA Change: F187Y
Domain | Start | End | E-Value | Type |
C2
|
129 |
232 |
1.42e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (32/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCGACACAAGAAGTTGC -3'
(R):5'- CCTCATACCCACAATTTGAAGG -3'
Sequencing Primer
(F):5'- AGTGCTTCAAATCCCCTGGGTAAG -3'
(R):5'- TACCCACAATTTGAAGGAGCAG -3'
|
Posted On |
2018-05-21 |