Incidental Mutation 'R3010:Cgrrf1'
| ID |
257482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgrrf1
|
| Ensembl Gene |
ENSMUSG00000055128 |
| Gene Name |
cell growth regulator with ring finger domain 1 |
| Synonyms |
CGR19, 1110038G02Rik, 1810009H17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47069591-47091655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47091223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068532]
[ENSMUST00000226861]
|
| AlphaFold |
Q8BMJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068532
AA Change: V249A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070548
Gene: ENSMUSG00000055128
AA Change: V249A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
246 |
N/A |
INTRINSIC |
|
RING
|
274 |
308 |
2.26e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226861
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,347,999 (GRCm39) |
V208A |
possibly damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,700 (GRCm39) |
S427P |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,105 (GRCm39) |
S630P |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
probably benign |
Het |
|
| Other mutations in Cgrrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Cgrrf1
|
APN |
14 |
47,069,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02507:Cgrrf1
|
APN |
14 |
47,090,901 (GRCm39) |
nonsense |
probably null |
|
|
IGL03298:Cgrrf1
|
APN |
14 |
47,083,778 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0152:Cgrrf1
|
UTSW |
14 |
47,091,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Cgrrf1
|
UTSW |
14 |
47,090,895 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2020:Cgrrf1
|
UTSW |
14 |
47,067,902 (GRCm39) |
unclassified |
probably benign |
|
|
R2107:Cgrrf1
|
UTSW |
14 |
47,090,833 (GRCm39) |
splice site |
probably benign |
|
|
R3801:Cgrrf1
|
UTSW |
14 |
47,069,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Cgrrf1
|
UTSW |
14 |
47,069,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4681:Cgrrf1
|
UTSW |
14 |
47,091,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Cgrrf1
|
UTSW |
14 |
47,090,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6010:Cgrrf1
|
UTSW |
14 |
47,091,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6299:Cgrrf1
|
UTSW |
14 |
47,077,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Cgrrf1
|
UTSW |
14 |
47,069,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Cgrrf1
|
UTSW |
14 |
47,091,179 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6986:Cgrrf1
|
UTSW |
14 |
47,069,586 (GRCm39) |
unclassified |
probably benign |
|
|
R7132:Cgrrf1
|
UTSW |
14 |
47,091,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Cgrrf1
|
UTSW |
14 |
47,090,934 (GRCm39) |
nonsense |
probably null |
|
|
R7694:Cgrrf1
|
UTSW |
14 |
47,091,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8081:Cgrrf1
|
UTSW |
14 |
47,091,468 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8158:Cgrrf1
|
UTSW |
14 |
47,091,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9028:Cgrrf1
|
UTSW |
14 |
47,091,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Cgrrf1
|
UTSW |
14 |
47,091,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGAATTTGCCAGTTCACAG -3'
(R):5'- GCTCTTTCTGACCACAAAGTG -3'
Sequencing Primer
(F):5'- GCCAGTTCACAGATTTTTAGGAGC -3'
(R):5'- GTGCAAAGGATTCCTGCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation