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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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