Incidental Mutation 'R1366:Cyhr1'
| ID |
156050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyhr1
|
| Ensembl Gene |
ENSMUSG00000053929 |
| Gene Name |
cysteine and histidine rich 1 |
| Synonyms |
1110031M01Rik, Chrp |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.343)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76643395-76660117 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76648969 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 190
(R190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081291]
[ENSMUST00000176274]
[ENSMUST00000229524]
|
| AlphaFold |
Q9QXA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081291
AA Change: R102G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: R102G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
|
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176274
AA Change: R190G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: R190G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
RING
|
106 |
150 |
1.9e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229524
AA Change: R190G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229552
|
| Meta Mutation Damage Score |
0.0693 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548H24Rik |
T |
A |
5: 31,487,517 (GRCm38) |
C205S |
probably benign |
Het |
| Aasdh |
A |
T |
5: 76,888,804 (GRCm38) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,658,288 (GRCm38) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,698,649 (GRCm38) |
N125Y |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,581,149 (GRCm38) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,306,413 (GRCm38) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,396,122 (GRCm38) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,753,326 (GRCm38) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,943,389 (GRCm38) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,539,386 (GRCm38) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 123,304,281 (GRCm38) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,887,889 (GRCm38) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,676,743 (GRCm38) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 153,138,295 (GRCm38) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,691,100 (GRCm38) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,387,215 (GRCm38) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,928,847 (GRCm38) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,366,504 (GRCm38) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 169,986,094 (GRCm38) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,405,917 (GRCm38) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,953,342 (GRCm38) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,716,580 (GRCm38) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,057,940 (GRCm38) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,502,926 (GRCm38) |
D245E |
probably damaging |
Het |
| Olfr1014 |
G |
A |
2: 85,777,004 (GRCm38) |
C140Y |
probably benign |
Het |
| Olfr114 |
T |
C |
17: 37,589,764 (GRCm38) |
I196M |
probably benign |
Het |
| Olfr57 |
T |
G |
10: 79,035,042 (GRCm38) |
M82R |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,941,038 (GRCm38) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,102,230 (GRCm38) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,243,865 (GRCm38) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,417,839 (GRCm38) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,804,614 (GRCm38) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,128,203 (GRCm38) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,449,322 (GRCm38) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 8,963,933 (GRCm38) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,335,149 (GRCm38) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,593,237 (GRCm38) |
Q556* |
probably null |
Het |
|
| Other mutations in Cyhr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Cyhr1
|
APN |
15 |
76,646,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03163:Cyhr1
|
APN |
15 |
76,659,274 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0107:Cyhr1
|
UTSW |
15 |
76,646,347 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0445:Cyhr1
|
UTSW |
15 |
76,648,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0759:Cyhr1
|
UTSW |
15 |
76,646,185 (GRCm38) |
makesense |
probably null |
|
|
R1327:Cyhr1
|
UTSW |
15 |
76,649,176 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1950:Cyhr1
|
UTSW |
15 |
76,659,217 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3416:Cyhr1
|
UTSW |
15 |
76,658,715 (GRCm38) |
splice site |
probably null |
|
|
R5092:Cyhr1
|
UTSW |
15 |
76,646,312 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5749:Cyhr1
|
UTSW |
15 |
76,658,644 (GRCm38) |
splice site |
probably null |
|
|
R5860:Cyhr1
|
UTSW |
15 |
76,656,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5860:Cyhr1
|
UTSW |
15 |
76,648,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6032:Cyhr1
|
UTSW |
15 |
76,658,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6032:Cyhr1
|
UTSW |
15 |
76,658,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6397:Cyhr1
|
UTSW |
15 |
76,648,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6481:Cyhr1
|
UTSW |
15 |
76,658,708 (GRCm38) |
splice site |
probably null |
|
|
R6533:Cyhr1
|
UTSW |
15 |
76,647,730 (GRCm38) |
nonsense |
probably null |
|
|
R7466:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7484:Cyhr1
|
UTSW |
15 |
76,646,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7629:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7732:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7763:Cyhr1
|
UTSW |
15 |
76,658,547 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7861:Cyhr1
|
UTSW |
15 |
76,648,186 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9300:Cyhr1
|
UTSW |
15 |
76,646,341 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTGCCAAACAAGAGTCTCACAC -3'
(R):5'- TATCCACCTACTAGCAGATGCCCG -3'
Sequencing Primer
(F):5'- ACAGCTTTTGAACTGATCCTGG -3'
(R):5'- ATGCCCGGCTGAAGGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation