Incidental Mutation 'R0702:Rims4'
| ID |
63041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims4
|
| Ensembl Gene |
ENSMUSG00000035226 |
| Gene Name |
regulating synaptic membrane exocytosis 4 |
| Synonyms |
Rim4 |
| MMRRC Submission |
038885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R0702 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
163701671-163760603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 163705849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 262
(V262M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044734]
[ENSMUST00000044798]
[ENSMUST00000109396]
|
| AlphaFold |
P60191 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044734
AA Change: V262M
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
AA Change: V262M
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
129 |
232 |
1.42e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044798
|
| SMART Domains |
Protein: ENSMUSP00000048326
Gene: ENSMUSG00000035238
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_2
|
78 |
153 |
1.2e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
184 |
267 |
1.2e-19 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0613 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
T |
8: 123,616,505 (GRCm39) |
I2428N |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,195 (GRCm39) |
V348A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,694,465 (GRCm39) |
I132T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,474,110 (GRCm39) |
D791N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,583 (GRCm39) |
Y819C |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,419,291 (GRCm39) |
D1263V |
possibly damaging |
Het |
| Csnk1g1 |
C |
T |
9: 65,917,775 (GRCm39) |
R45W |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgat2l6 |
G |
A |
X: 99,586,287 (GRCm39) |
V180M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,775 (GRCm39) |
P897L |
unknown |
Het |
| Herc6 |
T |
C |
6: 57,558,092 (GRCm39) |
L24P |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,443,269 (GRCm39) |
Q278L |
probably damaging |
Het |
| Kpna4 |
A |
T |
3: 68,991,438 (GRCm39) |
V361D |
probably damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,527 (GRCm39) |
D123G |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,794,177 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ntng1 |
G |
C |
3: 109,779,570 (GRCm39) |
R336G |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,062 (GRCm39) |
M305V |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,100,994 (GRCm39) |
V421M |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,603,835 (GRCm39) |
T2950A |
possibly damaging |
Het |
| Proser3 |
A |
T |
7: 30,238,955 (GRCm39) |
D630E |
probably benign |
Het |
| Serpina3g |
A |
G |
12: 104,207,512 (GRCm39) |
E225G |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,061,610 (GRCm39) |
L352P |
probably damaging |
Het |
| Trpc5 |
A |
G |
X: 143,194,735 (GRCm39) |
V590A |
probably damaging |
Het |
| Ubqln2 |
A |
T |
X: 152,282,665 (GRCm39) |
M406L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTAGCCAACCCACTGGGAAAG -3'
(R):5'- TCAGTTGCAAGACGTAACCAGCC -3'
Sequencing Primer
(F):5'- CCACTGGGAAAGGGAAGGTC -3'
(R):5'- CGTGTGGGGAAACTACGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation