Incidental Mutation 'IGL02806:Cchcr1'
ID |
360444 |
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 # |
IGL02806
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35827997-35841912 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 35836153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045956]
[ENSMUST00000164242]
[ENSMUST00000173903]
|
AlphaFold |
Q8K2I2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045956
|
SMART Domains |
Protein: ENSMUSP00000046612 Gene: ENSMUSG00000040312
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164242
|
SMART Domains |
Protein: ENSMUSP00000132028 Gene: ENSMUSG00000040312
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 |
probably benign
Transcript: ENSMUST00000173903
|
SMART Domains |
Protein: ENSMUSP00000133407 Gene: ENSMUSG00000040312
Domain | Start | End | E-Value | Type |
Pfam:HCR
|
110 |
855 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174827
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
Cacna2d3 |
A |
C |
14: 29,073,907 (GRCm39) |
|
probably null |
Het |
Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
Ermap |
T |
C |
4: 119,046,113 (GRCm39) |
K6E |
possibly damaging |
Het |
Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,791,952 (GRCm39) |
T264A |
probably benign |
Het |
Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
Setd7 |
A |
T |
3: 51,457,688 (GRCm39) |
N46K |
probably damaging |
Het |
Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
Toe1 |
C |
T |
4: 116,663,527 (GRCm39) |
V88M |
possibly damaging |
Het |
Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
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 |
IGL02723:Cchcr1
|
APN |
17 |
35,841,699 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-12-18 |