Incidental Mutation 'IGL01648:Chic2'
| ID |
102746 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chic2
|
| Ensembl Gene |
ENSMUSG00000029229 |
| Gene Name |
cysteine-rich hydrophobic domain 2 |
| Synonyms |
4930502K01Rik, BTL, 1700081B18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
IGL01648
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
75165665-75205302 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75187860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 67
(S67C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075452]
|
| AlphaFold |
Q9D9G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075452
AA Change: S67C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074903
Gene: ENSMUSG00000029229
AA Change: S67C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
Pfam:Erf4
|
39 |
141 |
7.9e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
G |
5: 26,695,398 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
C |
T |
10: 79,846,914 (GRCm39) |
S1664L |
probably damaging |
Het |
| Aebp1 |
G |
T |
11: 5,820,607 (GRCm39) |
R499L |
possibly damaging |
Het |
| Agt |
C |
A |
8: 125,291,145 (GRCm39) |
S54I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,508,451 (GRCm39) |
*3066Y |
probably null |
Het |
| Fan1 |
A |
G |
7: 64,022,297 (GRCm39) |
S319P |
probably damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,340 (GRCm39) |
Q700* |
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,153 (GRCm39) |
H2537L |
possibly damaging |
Het |
| Lingo1 |
C |
A |
9: 56,527,111 (GRCm39) |
A493S |
probably damaging |
Het |
| Med20 |
A |
G |
17: 47,933,925 (GRCm39) |
H180R |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,026,997 (GRCm39) |
C152R |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,805 (GRCm39) |
F59S |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,535 (GRCm39) |
M296K |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,801,715 (GRCm39) |
D171G |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,182,321 (GRCm39) |
N437K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,653 (GRCm39) |
|
probably benign |
Het |
| Tradd |
A |
G |
8: 105,986,418 (GRCm39) |
L118S |
probably damaging |
Het |
| Trib1 |
G |
T |
15: 59,526,350 (GRCm39) |
V307F |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,498,545 (GRCm39) |
M8K |
probably benign |
Het |
| Xrcc6 |
A |
T |
15: 81,909,835 (GRCm39) |
E238V |
probably damaging |
Het |
|
| Other mutations in Chic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Chic2
|
APN |
5 |
75,167,428 (GRCm39) |
splice site |
probably benign |
|
|
IGL02327:Chic2
|
APN |
5 |
75,187,741 (GRCm39) |
nonsense |
probably null |
|
|
IGL03201:Chic2
|
APN |
5 |
75,171,954 (GRCm39) |
splice site |
probably benign |
|
|
R1872:Chic2
|
UTSW |
5 |
75,172,140 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4923:Chic2
|
UTSW |
5 |
75,171,872 (GRCm39) |
intron |
probably benign |
|
|
R4995:Chic2
|
UTSW |
5 |
75,204,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5066:Chic2
|
UTSW |
5 |
75,187,817 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6494:Chic2
|
UTSW |
5 |
75,204,943 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2014-01-21 |
Incidental Mutation