Incidental Mutation 'IGL00488:Cchcr1'
ID |
9458 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cchcr1
|
Ensembl Gene |
ENSMUSG00000040312 |
Gene Name |
coiled-coil alpha-helical rod protein 1 |
Synonyms |
Hcr |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.459)
|
Stock # |
IGL00488
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35827997-35841912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35839469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 585
(D585G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025273]
[ENSMUST00000045956]
[ENSMUST00000164242]
[ENSMUST00000173903]
|
AlphaFold |
Q8K2I2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025273
|
SMART Domains |
Protein: ENSMUSP00000025273 Gene: ENSMUSG00000024409
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
Pfam:SPR1
|
22 |
135 |
1.3e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045956
AA Change: D502G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046612 Gene: ENSMUSG00000040312 AA Change: D502G
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164242
AA Change: D502G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132028 Gene: ENSMUSG00000040312 AA Change: D502G
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173582
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173903
AA Change: D585G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133407 Gene: ENSMUSG00000040312 AA Change: D585G
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
110 |
855 |
N/A |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
Ptpn18 |
G |
A |
1: 34,502,200 (GRCm39) |
R72K |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,391 (GRCm39) |
I463V |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
Sestd1 |
A |
G |
2: 77,042,796 (GRCm39) |
S253P |
possibly damaging |
Het |
Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
Ugt2b34 |
T |
A |
5: 87,040,818 (GRCm39) |
H368L |
probably damaging |
Het |
Wdr20rt |
T |
C |
12: 65,272,744 (GRCm39) |
V69A |
possibly damaging |
Het |
Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
Other mutations in Cchcr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02723:Cchcr1
|
APN |
17 |
35,841,699 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02806:Cchcr1
|
APN |
17 |
35,836,153 (GRCm39) |
splice site |
probably benign |
|
IGL03055:Cchcr1
|
UTSW |
17 |
35,837,516 (GRCm39) |
missense |
probably benign |
0.33 |
R0569:Cchcr1
|
UTSW |
17 |
35,839,865 (GRCm39) |
critical splice donor site |
probably null |
|
R1438:Cchcr1
|
UTSW |
17 |
35,841,457 (GRCm39) |
critical splice donor site |
probably null |
|
R2055:Cchcr1
|
UTSW |
17 |
35,837,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Cchcr1
|
UTSW |
17 |
35,841,410 (GRCm39) |
missense |
probably benign |
0.01 |
R3910:Cchcr1
|
UTSW |
17 |
35,836,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Cchcr1
|
UTSW |
17 |
35,836,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Cchcr1
|
UTSW |
17 |
35,836,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Cchcr1
|
UTSW |
17 |
35,837,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R5821:Cchcr1
|
UTSW |
17 |
35,839,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5940:Cchcr1
|
UTSW |
17 |
35,835,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Cchcr1
|
UTSW |
17 |
35,835,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R6006:Cchcr1
|
UTSW |
17 |
35,835,597 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6114:Cchcr1
|
UTSW |
17 |
35,836,227 (GRCm39) |
missense |
probably damaging |
0.98 |
R6146:Cchcr1
|
UTSW |
17 |
35,839,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6262:Cchcr1
|
UTSW |
17 |
35,841,413 (GRCm39) |
missense |
probably benign |
0.04 |
R6369:Cchcr1
|
UTSW |
17 |
35,839,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R6478:Cchcr1
|
UTSW |
17 |
35,835,600 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6827:Cchcr1
|
UTSW |
17 |
35,841,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6860:Cchcr1
|
UTSW |
17 |
35,840,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7109:Cchcr1
|
UTSW |
17 |
35,828,838 (GRCm39) |
critical splice donor site |
probably null |
|
R7276:Cchcr1
|
UTSW |
17 |
35,840,031 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7341:Cchcr1
|
UTSW |
17 |
35,837,610 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Cchcr1
|
UTSW |
17 |
35,835,693 (GRCm39) |
missense |
probably benign |
0.09 |
R7472:Cchcr1
|
UTSW |
17 |
35,839,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Cchcr1
|
UTSW |
17 |
35,837,383 (GRCm39) |
missense |
probably benign |
0.01 |
R8189:Cchcr1
|
UTSW |
17 |
35,837,563 (GRCm39) |
missense |
probably benign |
|
R9276:Cchcr1
|
UTSW |
17 |
35,841,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Cchcr1
|
UTSW |
17 |
35,839,285 (GRCm39) |
critical splice donor site |
probably null |
|
X0025:Cchcr1
|
UTSW |
17 |
35,837,573 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Cchcr1
|
UTSW |
17 |
35,839,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |