Incidental Mutation 'IGL02723:Cchcr1'
ID |
305060 |
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 # |
IGL02723
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35827997-35841912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 35841699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 761
(K761Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132028
(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: K761Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000046612 Gene: ENSMUSG00000040312 AA Change: K761Q
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164242
AA Change: K761Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000132028 Gene: ENSMUSG00000040312 AA Change: K761Q
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172893
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173903
AA Change: K858Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133407 Gene: ENSMUSG00000040312 AA Change: K858Q
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Capn9 |
A |
T |
8: 125,335,922 (GRCm39) |
|
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,516,507 (GRCm38) |
N347S |
probably benign |
Het |
Csk |
G |
T |
9: 57,538,672 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,118,366 (GRCm39) |
K76E |
probably benign |
Het |
Dpep1 |
G |
A |
8: 123,920,888 (GRCm39) |
A23T |
possibly damaging |
Het |
Dpp8 |
T |
A |
9: 64,949,549 (GRCm39) |
M98K |
possibly damaging |
Het |
Dspp |
C |
A |
5: 104,323,041 (GRCm39) |
N61K |
probably benign |
Het |
Eno2 |
T |
C |
6: 124,738,626 (GRCm39) |
Y364C |
probably damaging |
Het |
Gfra1 |
A |
G |
19: 58,441,683 (GRCm39) |
S83P |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,218,127 (GRCm39) |
E563G |
probably damaging |
Het |
Kcns2 |
G |
T |
15: 34,838,961 (GRCm39) |
W108L |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 59,015,446 (GRCm39) |
S1009T |
probably benign |
Het |
Or2y11 |
A |
G |
11: 49,443,506 (GRCm39) |
R311G |
probably benign |
Het |
Or5b119 |
A |
G |
19: 13,456,699 (GRCm39) |
Y288H |
probably damaging |
Het |
Or7g32 |
T |
C |
9: 19,388,805 (GRCm39) |
H244R |
probably damaging |
Het |
Or8b41 |
A |
G |
9: 38,054,707 (GRCm39) |
K92R |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,547,500 (GRCm39) |
|
probably benign |
Het |
Rpl13a-ps1 |
T |
A |
19: 50,019,111 (GRCm39) |
I22F |
possibly damaging |
Het |
Skil |
A |
G |
3: 31,171,673 (GRCm39) |
E599G |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Spata31 |
T |
C |
13: 65,068,463 (GRCm39) |
S204P |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tenm3 |
A |
T |
8: 48,729,938 (GRCm39) |
V1356E |
probably benign |
Het |
Trpc3 |
T |
A |
3: 36,704,377 (GRCm39) |
I527F |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,059,416 (GRCm39) |
W498R |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,205,759 (GRCm39) |
I263L |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,619,893 (GRCm39) |
V1524L |
possibly damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
Other mutations in Cchcr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:Cchcr1
|
APN |
17 |
35,839,469 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2015-04-16 |