Incidental Mutation 'IGL02611:Chac1'
| ID |
300465 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chac1
|
| Ensembl Gene |
ENSMUSG00000027313 |
| Gene Name |
ChaC, cation transport regulator 1 |
| Synonyms |
1810008K03Rik, Botch |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119181723-119184807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119183934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 179
(Y179N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028780]
|
| AlphaFold |
Q8R3J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028780
AA Change: Y179N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028780
Gene: ENSMUSG00000027313
AA Change: Y179N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
Pfam:ChaC
|
34 |
209 |
2.2e-71 |
PFAM |
|
| 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 gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cyp2c37 |
T |
G |
19: 39,982,309 (GRCm39) |
F103L |
probably benign |
Het |
| Dmp1 |
A |
T |
5: 104,360,380 (GRCm39) |
D352V |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,963,075 (GRCm39) |
I443T |
probably benign |
Het |
| Furin |
G |
A |
7: 80,041,526 (GRCm39) |
A544V |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,411,450 (GRCm39) |
M260T |
probably damaging |
Het |
| Gm17654 |
G |
A |
14: 43,816,462 (GRCm39) |
T47I |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,333,941 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
A |
6: 128,401,688 (GRCm39) |
N30I |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,950,128 (GRCm39) |
L1977H |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,551 (GRCm39) |
F779L |
possibly damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,010,080 (GRCm39) |
Y1160C |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,701 (GRCm39) |
S401I |
probably damaging |
Het |
| Or2ag1b |
G |
T |
7: 106,287,996 (GRCm39) |
T314K |
probably benign |
Het |
| Or52n20 |
A |
T |
7: 104,320,614 (GRCm39) |
D235V |
possibly damaging |
Het |
| Pcdh8 |
C |
T |
14: 80,005,107 (GRCm39) |
V876I |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,647 (GRCm39) |
S633P |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,716 (GRCm39) |
R239Q |
probably benign |
Het |
| St18 |
T |
A |
1: 6,839,114 (GRCm39) |
|
probably benign |
Het |
| Syt2 |
G |
A |
1: 134,669,620 (GRCm39) |
C87Y |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,131,967 (GRCm39) |
T2300A |
probably damaging |
Het |
|
| Other mutations in Chac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Chac1
|
APN |
2 |
119,184,040 (GRCm39) |
missense |
probably benign |
|
|
PIT4366001:Chac1
|
UTSW |
2 |
119,181,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Chac1
|
UTSW |
2 |
119,183,941 (GRCm39) |
nonsense |
probably null |
|
|
R0862:Chac1
|
UTSW |
2 |
119,183,950 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0864:Chac1
|
UTSW |
2 |
119,183,950 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1734:Chac1
|
UTSW |
2 |
119,183,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Chac1
|
UTSW |
2 |
119,183,725 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5609:Chac1
|
UTSW |
2 |
119,181,887 (GRCm39) |
missense |
unknown |
|
|
R5641:Chac1
|
UTSW |
2 |
119,181,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Chac1
|
UTSW |
2 |
119,184,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7877:Chac1
|
UTSW |
2 |
119,183,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Chac1
|
UTSW |
2 |
119,183,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Chac1
|
UTSW |
2 |
119,182,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Chac1
|
UTSW |
2 |
119,183,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2015-04-16 |
Incidental Mutation