Incidental Mutation 'R1209:Rims4'
ID |
100573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rims4
|
Ensembl Gene |
ENSMUSG00000035226 |
Gene Name |
regulating synaptic membrane exocytosis 4 |
Synonyms |
Rim4 |
MMRRC Submission |
039278-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R1209 (G1)
|
Quality Score |
87 |
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: 99.1%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 85.9%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,839,629 (GRCm39) |
D180G |
probably damaging |
Het |
Aopep |
A |
G |
13: 63,338,878 (GRCm39) |
|
probably null |
Het |
Banp |
G |
A |
8: 122,702,656 (GRCm39) |
V30I |
possibly damaging |
Het |
Btn2a2 |
C |
T |
13: 23,664,736 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cdhr1 |
C |
T |
14: 36,804,899 (GRCm39) |
|
probably null |
Het |
Cfap44 |
T |
C |
16: 44,242,780 (GRCm39) |
I728T |
possibly damaging |
Het |
Fbn2 |
A |
G |
18: 58,203,088 (GRCm39) |
M1212T |
probably benign |
Het |
Fmo3 |
C |
T |
1: 162,791,597 (GRCm39) |
D227N |
probably benign |
Het |
Klk1b5 |
G |
T |
7: 43,496,422 (GRCm39) |
R118L |
probably damaging |
Het |
Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
Muc5b |
A |
G |
7: 141,411,647 (GRCm39) |
N1531S |
unknown |
Het |
Mypn |
A |
G |
10: 62,954,278 (GRCm39) |
S1234P |
probably damaging |
Het |
Nme5 |
A |
G |
18: 34,702,949 (GRCm39) |
L113S |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,672,484 (GRCm39) |
V207A |
probably benign |
Het |
Or13a20 |
A |
G |
7: 140,231,927 (GRCm39) |
T12A |
probably benign |
Het |
Or4f52 |
T |
C |
2: 111,061,958 (GRCm39) |
Y60C |
probably damaging |
Het |
Otop2 |
A |
G |
11: 115,215,469 (GRCm39) |
E130G |
possibly damaging |
Het |
Pard6a |
A |
G |
8: 106,429,023 (GRCm39) |
K78R |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,840,809 (GRCm39) |
L1637H |
probably damaging |
Het |
Rnaset2b |
T |
A |
17: 7,246,475 (GRCm39) |
C27S |
probably benign |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Speer4a1 |
T |
C |
5: 26,240,123 (GRCm39) |
|
probably null |
Het |
Srsf4 |
A |
G |
4: 131,628,370 (GRCm39) |
|
probably benign |
Het |
Syt11 |
G |
A |
3: 88,655,147 (GRCm39) |
R79C |
probably damaging |
Het |
Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
Tmem132d |
T |
A |
5: 127,861,934 (GRCm39) |
D729V |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
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 |
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 |
2014-01-15 |