Incidental Mutation 'IGL03298:Cgrrf1'
| ID |
416157 |
| 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 # |
IGL03298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47069591-47091655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47083778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 187
(I187V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068532]
[ENSMUST00000133989]
[ENSMUST00000226861]
|
| AlphaFold |
Q8BMJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068532
AA Change: I187V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000070548
Gene: ENSMUSG00000055128
AA Change: I187V
| 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: ENSMUST00000133790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133989
AA Change: I187V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228424
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,848,880 (GRCm39) |
D491Y |
probably damaging |
Het |
| Casp2 |
C |
T |
6: 42,245,924 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,326,156 (GRCm39) |
T63A |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,625 (GRCm39) |
V845M |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,885 (GRCm39) |
M691T |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,363,682 (GRCm39) |
I4081M |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,993,903 (GRCm39) |
D349V |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,696 (GRCm39) |
T651A |
unknown |
Het |
| Megf10 |
C |
T |
18: 57,416,910 (GRCm39) |
Q760* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,571,288 (GRCm39) |
K22* |
probably null |
Het |
| Or4f53 |
A |
T |
2: 111,087,879 (GRCm39) |
M140L |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,358 (GRCm39) |
V273E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,571,829 (GRCm39) |
Y107N |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,115,834 (GRCm39) |
Q3058L |
probably damaging |
Het |
| Ss18 |
T |
C |
18: 14,812,484 (GRCm39) |
M36V |
possibly damaging |
Het |
| Tlr7 |
C |
A |
X: 166,089,703 (GRCm39) |
K594N |
probably benign |
Het |
| Trim10 |
A |
G |
17: 37,187,917 (GRCm39) |
S378G |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,782,967 (GRCm39) |
S1105P |
possibly damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation