Incidental Mutation 'IGL00231:Cgrrf1'
| ID |
2149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47069591-47091655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47069779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 16
(F16S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068532]
[ENSMUST00000133989]
[ENSMUST00000140114]
[ENSMUST00000226861]
|
| AlphaFold |
Q8BMJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068532
AA Change: F16S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070548
Gene: ENSMUSG00000055128
AA Change: F16S
| 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 |
noncoding transcript
Transcript: ENSMUST00000074862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133790
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133989
AA Change: F16S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140114
AA Change: F16S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181311
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226861
AA Change: F16S
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,303,877 (GRCm39) |
T1346A |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,638,266 (GRCm39) |
|
probably null |
Het |
| Clybl |
T |
C |
14: 122,616,610 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
C |
2: 13,386,660 (GRCm39) |
E1535G |
possibly damaging |
Het |
| Dmrtc1b |
C |
A |
X: 101,757,233 (GRCm39) |
P226H |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,040 (GRCm39) |
A1784V |
possibly damaging |
Het |
| Dnajc24 |
A |
G |
2: 105,832,348 (GRCm39) |
Y12H |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,486 (GRCm39) |
T236A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,835,707 (GRCm39) |
V1934D |
unknown |
Het |
| Flt1 |
A |
G |
5: 147,517,110 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,495,262 (GRCm39) |
K284R |
probably benign |
Het |
| Hcn1 |
A |
G |
13: 118,112,529 (GRCm39) |
E831G |
probably damaging |
Het |
| Inpp5j |
A |
T |
11: 3,450,009 (GRCm39) |
|
probably benign |
Het |
| Insig2 |
A |
G |
1: 121,233,676 (GRCm39) |
Y213H |
probably damaging |
Het |
| Kcnh4 |
G |
A |
11: 100,647,821 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,551,662 (GRCm39) |
|
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,481,081 (GRCm39) |
E231G |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mfsd4b2 |
T |
A |
10: 39,801,057 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
A |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
| Or10ag2 |
A |
G |
2: 87,248,910 (GRCm39) |
T173A |
possibly damaging |
Het |
| Or8s5 |
C |
T |
15: 98,238,054 (GRCm39) |
S256N |
possibly damaging |
Het |
| Osbp2 |
C |
T |
11: 3,676,561 (GRCm39) |
D287N |
possibly damaging |
Het |
| Plin1 |
A |
G |
7: 79,376,408 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,907,409 (GRCm39) |
N962S |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,260,106 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,652,544 (GRCm39) |
D601E |
probably benign |
Het |
| S100a7l2 |
A |
G |
3: 90,995,665 (GRCm39) |
M79T |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,900,340 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
T |
C |
12: 30,326,720 (GRCm39) |
D147G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Stam2 |
T |
A |
2: 52,596,418 (GRCm39) |
I307F |
possibly damaging |
Het |
| Tbx21 |
T |
G |
11: 96,989,749 (GRCm39) |
E481A |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,827,081 (GRCm39) |
T876I |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,824,496 (GRCm39) |
I1308V |
possibly damaging |
Het |
| Wdr37 |
C |
T |
13: 8,870,541 (GRCm39) |
V143I |
probably damaging |
Het |
| Wdr43 |
T |
G |
17: 71,959,809 (GRCm39) |
Y550D |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
|
| Other mutations in Cgrrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R3010:Cgrrf1
|
UTSW |
14 |
47,091,223 (GRCm39) |
missense |
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 |
|
| Posted On |
2011-12-09 |
Incidental Mutation