Incidental Mutation 'R1013:Rims4'
| ID |
95833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims4
|
| Ensembl Gene |
ENSMUSG00000035226 |
| Gene Name |
regulating synaptic membrane exocytosis 4 |
| Synonyms |
Rim4 |
| MMRRC Submission |
039117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1013 (G1)
|
| Quality Score |
96 |
|
Status
|
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: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
| Validation Efficiency |
98% (39/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
| Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
| Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
| Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
| Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
| Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
| Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
| Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
| Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
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 |
|
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 |
2014-01-05 |
Incidental Mutation