Incidental Mutation 'R0152:Rims4'
| ID |
60898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims4
|
| Ensembl Gene |
ENSMUSG00000035226 |
| Gene Name |
regulating synaptic membrane exocytosis 4 |
| Synonyms |
Rim4 |
| MMRRC Submission |
038435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R0152 (G1)
|
| Quality Score |
92 |
|
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: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
87% (40/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,074,688 (GRCm39) |
D834G |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
| Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,389,606 (GRCm39) |
V104A |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,428,144 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTAGCCAACCCACTGGGAAAG -3'
(R):5'- TCAGTTGCAAGACGTAACCAGCC -3'
Sequencing Primer
(F):5'- CCACTGGGAAAGGGAAGGTC -3'
(R):5'- CGTGTGGGGAAACTACGG -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation