Incidental Mutation 'R6827:Cchcr1'
| ID |
534226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cchcr1
|
| Ensembl Gene |
ENSMUSG00000040312 |
| Gene Name |
coiled-coil alpha-helical rod protein 1 |
| Synonyms |
Hcr |
| MMRRC Submission |
044938-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R6827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35827997-35841912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35841302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 773
(T773A)
|
| 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
|
| 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 |
possibly damaging
Transcript: ENSMUST00000173903
AA Change: T773A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: T773A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCR
|
110 |
855 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.2362 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
C |
A |
3: 62,330,919 (GRCm39) |
|
probably null |
Het |
| Asb3 |
A |
G |
11: 31,051,211 (GRCm39) |
N555S |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,966,896 (GRCm39) |
V501A |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,840,191 (GRCm39) |
N139Y |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,817,453 (GRCm39) |
L406P |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,727,176 (GRCm39) |
I607F |
probably damaging |
Het |
| Gm3573 |
T |
A |
14: 42,010,429 (GRCm39) |
T59S |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,742,543 (GRCm39) |
L94P |
possibly damaging |
Het |
| Gypa |
A |
T |
8: 81,231,417 (GRCm39) |
M109L |
probably benign |
Het |
| Hk3 |
C |
A |
13: 55,159,165 (GRCm39) |
V409L |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,899,925 (GRCm39) |
T65A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,105,205 (GRCm39) |
P1055Q |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,994,053 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,545 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,155,748 (GRCm39) |
T284I |
probably benign |
Het |
| Naf1 |
A |
T |
8: 67,330,343 (GRCm39) |
T290S |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,382,437 (GRCm39) |
V91L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,255,530 (GRCm39) |
V568A |
probably damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,274,382 (GRCm39) |
W753R |
probably damaging |
Het |
| Or51v15-ps1 |
C |
A |
7: 103,279,032 (GRCm39) |
C45F |
possibly damaging |
Het |
| Pbld1 |
C |
A |
10: 62,903,212 (GRCm39) |
N96K |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,277,706 (GRCm39) |
V229M |
probably benign |
Het |
| Prrc2b |
G |
T |
2: 32,090,963 (GRCm39) |
R445L |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,505,666 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,762,442 (GRCm39) |
I21N |
possibly damaging |
Het |
| Tex51 |
C |
T |
18: 32,591,713 (GRCm39) |
W186* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,582,837 (GRCm39) |
F297L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,968,052 (GRCm39) |
E293G |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,685,959 (GRCm39) |
T69S |
probably benign |
Het |
| Ubxn4 |
T |
C |
1: 128,204,714 (GRCm39) |
M468T |
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,616,011 (GRCm39) |
R104L |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,828,882 (GRCm39) |
Q1041R |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,551,474 (GRCm39) |
F68L |
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 |
|
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 |
|
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'- TGGTTTCCTTGCGCCAGATC -3'
(R):5'- AAGGCCAGTGTATTCTACCTTTC -3'
Sequencing Primer
(F):5'- TTGCGCCAGATCCAGCAC -3'
(R):5'- TTCACAGATTCCTTGCACGAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation