Incidental Mutation 'R3910:Cchcr1'
| ID |
309354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cchcr1
|
| Ensembl Gene |
ENSMUSG00000040312 |
| Gene Name |
coiled-coil alpha-helical rod protein 1 |
| Synonyms |
Hcr |
| MMRRC Submission |
040815-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.508)
|
| Stock # |
R3910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35827997-35841912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35836233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 341
(V341A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045956]
[ENSMUST00000164242]
[ENSMUST00000173903]
|
| AlphaFold |
Q8K2I2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045956
AA Change: V341A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: V341A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCR
|
27 |
767 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164242
AA Change: V341A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: V341A
| 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: V424A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: V424A
| 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
|
| Meta Mutation Damage Score |
0.8327 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
| Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,770 (GRCm39) |
E61G |
possibly damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,757 (GRCm39) |
N163I |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCCTAAACTCCTCACTGTG -3'
(R):5'- TGACAATGTGACGCCTACCC -3'
Sequencing Primer
(F):5'- TAAACTCCTCACTGTGGACGG -3'
(R):5'- TTCTAGAACTCAAGCTCCGTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation