Incidental Mutation 'R7763:Cyhr1'
ID 598075
Institutional Source Beutler Lab
Gene Symbol Cyhr1
Ensembl Gene ENSMUSG00000053929
Gene Name cysteine and histidine rich 1
Synonyms 1110031M01Rik, Chrp
MMRRC Submission 045819-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.343) question?
Stock # R7763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76643395-76660117 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76658547 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 138 (Y138N)
Ref Sequence ENSEMBL: ENSMUSP00000063317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000177359] [ENSMUST00000229524] [ENSMUST00000230451] [ENSMUST00000230964] [ENSMUST00000231152]
AlphaFold Q9QXA1
Predicted Effect probably benign
Transcript: ENSMUST00000004294
SMART Domains Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 36 45 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
coiled coil region 195 235 N/A INTRINSIC
coiled coil region 274 345 N/A INTRINSIC
KISc 407 740 3.21e-141 SMART
low complexity region 745 781 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066677
AA Change: Y138N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: Y138N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081291
SMART Domains Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
SCOP:d1jm7a_ 21 88 3e-5 SMART
Blast:RING 27 62 8e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176274
SMART Domains Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929

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 probably damaging
Transcript: ENSMUST00000177359
AA Change: Y138N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: Y138N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229524
Predicted Effect probably benign
Transcript: ENSMUST00000230451
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Predicted Effect probably damaging
Transcript: ENSMUST00000231152
AA Change: Y138N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,514,602 (GRCm38) W899R probably damaging Het
Abca5 A T 11: 110,272,497 (GRCm38) W1631R possibly damaging Het
Actg2 T A 6: 83,527,368 (GRCm38) D25V probably damaging Het
Akap10 G C 11: 61,915,505 (GRCm38) D132E probably damaging Het
Angptl2 G T 2: 33,242,382 (GRCm38) E334* probably null Het
Aprt T C 8: 122,574,935 (GRCm38) R165G probably benign Het
B020004J07Rik T C 4: 101,837,141 (GRCm38) I182V possibly damaging Het
Bmp1 A G 14: 70,492,084 (GRCm38) F549S probably damaging Het
Capzb C T 4: 139,280,553 (GRCm38) T215I probably benign Het
Car14 C T 3: 95,904,372 (GRCm38) M1I probably null Het
Ccdc148 T A 2: 58,823,636 (GRCm38) Q501L probably benign Het
Ccdc32 G A 2: 119,027,347 (GRCm38) T12I probably damaging Het
Ccnf G A 17: 24,225,012 (GRCm38) S594L probably damaging Het
Cdadc1 C T 14: 59,573,834 (GRCm38) C409Y probably damaging Het
Cdh23 G T 10: 60,312,577 (GRCm38) S2670R probably damaging Het
Cdh8 T A 8: 99,279,674 (GRCm38) K94* probably null Het
Cdhr2 A T 13: 54,717,692 (GRCm38) Y193F probably damaging Het
Cdon T A 9: 35,454,415 (GRCm38) Y153* probably null Het
Chd1 G A 17: 15,733,041 (GRCm38) G413R probably damaging Het
Cit A T 5: 115,987,001 (GRCm38) T1582S probably benign Het
Clec4a3 T C 6: 122,964,340 (GRCm38) L98P probably benign Het
Cpa4 T A 6: 30,583,645 (GRCm38) D253E probably damaging Het
Cyp2c40 T A 19: 39,807,168 (GRCm38) N189I possibly damaging Het
Daam2 G T 17: 49,490,022 (GRCm38) A245E probably benign Het
Dennd5b A G 6: 149,068,658 (GRCm38) F121S probably damaging Het
Dgkd A G 1: 87,926,949 (GRCm38) T658A probably benign Het
Dmwd T A 7: 19,080,340 (GRCm38) L305Q probably damaging Het
Dnah5 A T 15: 28,313,855 (GRCm38) Y1939F probably damaging Het
Dock5 T C 14: 67,821,327 (GRCm38) T512A probably damaging Het
Dopey2 T A 16: 93,755,514 (GRCm38) D398E probably benign Het
Eef1akmt4 A G 16: 20,618,529 (GRCm38) H207R probably damaging Het
Egfr T C 11: 16,891,266 (GRCm38) V719A probably damaging Het
Ep300 A T 15: 81,586,583 (GRCm38) probably benign Het
Epha4 A G 1: 77,390,031 (GRCm38) probably null Het
Erc2 T G 14: 27,876,204 (GRCm38) probably null Het
Ergic1 A T 17: 26,638,827 (GRCm38) Y209F possibly damaging Het
Fbxw28 A G 9: 109,326,633 (GRCm38) I357T probably damaging Het
Flnb A T 14: 7,926,478 (GRCm38) T1841S probably benign Het
Foxc1 G A 13: 31,808,028 (GRCm38) S274N probably benign Het
Fto C T 8: 91,409,443 (GRCm38) T115M probably damaging Het
Gm10228 C G 16: 89,041,299 (GRCm38) C39S unknown Het
Gm7334 T C 17: 50,698,715 (GRCm38) F10L possibly damaging Het
Hfm1 A G 5: 106,881,861 (GRCm38) Y785H probably damaging Het
Hivep1 T A 13: 42,159,461 (GRCm38) S1726T probably benign Het
Htt G T 5: 34,852,190 (GRCm38) C1505F probably damaging Het
Hydin T C 8: 110,505,843 (GRCm38) S1665P possibly damaging Het
Ifi209 T A 1: 173,642,879 (GRCm38) N344K probably damaging Het
Ifnar2 T C 16: 91,399,293 (GRCm38) M262T probably benign Het
Ighv7-3 T A 12: 114,153,207 (GRCm38) S112C probably damaging Het
Igkv4-86 A G 6: 68,910,579 (GRCm38) S59P probably benign Het
Iglv1 A G 16: 19,085,489 (GRCm38) probably benign Het
Ipo7 T A 7: 110,052,799 (GRCm38) D928E possibly damaging Het
Itgae G T 11: 73,123,269 (GRCm38) probably null Het
Kbtbd12 T A 6: 88,618,197 (GRCm38) Q217L probably benign Het
Kcnma1 T A 14: 23,300,006 (GRCm38) Y1155F possibly damaging Het
Kif14 A G 1: 136,516,383 (GRCm38) E1371G probably benign Het
Lilrb4a A T 10: 51,491,046 (GRCm38) Y10F probably benign Het
Lrp2 A T 2: 69,503,388 (GRCm38) V1503E probably damaging Het
Mfsd6 A T 1: 52,708,640 (GRCm38) D355E probably benign Het
Mri1 T C 8: 84,251,028 (GRCm38) H226R Het
Mroh4 C T 15: 74,624,705 (GRCm38) E278K probably damaging Het
Muc4 T A 16: 32,753,311 (GRCm38) L1063H probably benign Het
Mzf1 A T 7: 13,044,091 (GRCm38) I541N probably damaging Het
Nasp T A 4: 116,612,033 (GRCm38) E116D probably benign Het
Nlrp10 T A 7: 108,925,826 (GRCm38) E149V probably damaging Het
Notch4 G A 17: 34,582,418 (GRCm38) C1080Y probably damaging Het
Nova1 T G 12: 46,720,698 (GRCm38) I147L unknown Het
Ogdh A G 11: 6,338,558 (GRCm38) M223V probably benign Het
Olfr1391 G T 11: 49,327,671 (GRCm38) A87S probably benign Het
Olfr444 T C 6: 42,955,789 (GRCm38) I97T probably benign Het
Olfr732 A T 14: 50,281,488 (GRCm38) I255N probably damaging Het
Olfr792 G T 10: 129,541,455 (GRCm38) R306L probably benign Het
P3h3 T C 6: 124,854,432 (GRCm38) Q330R probably benign Het
Pcdhb10 A G 18: 37,411,882 (GRCm38) T4A not run Het
Pkd2l2 A T 18: 34,433,287 (GRCm38) probably null Het
Plekhb1 C T 7: 100,645,663 (GRCm38) V168I probably benign Het
Plxna4 C T 6: 32,223,980 (GRCm38) R753H probably damaging Het
Prex1 G C 2: 166,713,709 (GRCm38) P4A unknown Het
Ptgdr A G 14: 44,859,078 (GRCm38) V59A probably damaging Het
Ralgapa1 T A 12: 55,757,955 (GRCm38) I519F probably benign Het
Rbpms A G 8: 33,789,453 (GRCm38) I170T probably benign Het
Sec31b T A 19: 44,523,835 (GRCm38) probably null Het
Skint11 A T 4: 114,227,708 (GRCm38) Y138F probably benign Het
Slain2 A G 5: 72,948,610 (GRCm38) Y196C probably damaging Het
Slco1b2 T A 6: 141,676,224 (GRCm38) C503* probably null Het
Slfn3 A T 11: 83,214,788 (GRCm38) Y537F possibly damaging Het
Slu7 T C 11: 43,444,765 (GRCm38) Y443H probably damaging Het
Sorl1 T A 9: 42,043,909 (GRCm38) E683D probably damaging Het
Sos1 T A 17: 80,413,713 (GRCm38) I893L probably benign Het
St8sia2 T A 7: 73,943,321 (GRCm38) Y329F probably damaging Het
Stra6l C A 4: 45,869,570 (GRCm38) S212* probably null Het
Syne3 C T 12: 104,997,495 (GRCm38) probably benign Het
Tenm4 T A 7: 96,895,692 (GRCm38) I2342N probably benign Het
Tescl T A 7: 24,333,263 (GRCm38) E212D probably benign Het
Trip11 A G 12: 101,844,855 (GRCm38) S1879P probably benign Het
Ube2c A T 2: 164,771,291 (GRCm38) probably null Het
Umodl1 T A 17: 30,986,456 (GRCm38) I675N probably benign Het
Vipr2 T C 12: 116,122,718 (GRCm38) F121S probably damaging Het
Vmn1r206 A T 13: 22,620,669 (GRCm38) S123T possibly damaging Het
Vmn1r58 A G 7: 5,410,913 (GRCm38) V106A probably damaging Het
Vmn2r112 A G 17: 22,603,118 (GRCm38) Y259C probably damaging Het
Vmn2r66 T C 7: 85,005,701 (GRCm38) K467E probably benign Het
Vmn2r98 T C 17: 19,080,535 (GRCm38) F600L probably benign Het
Vps13a T A 19: 16,746,000 (GRCm38) N278I possibly damaging Het
Vwa5a A C 9: 38,741,162 (GRCm38) D747A possibly damaging Het
Xdh G A 17: 73,934,834 (GRCm38) P157S possibly damaging Het
Xrn1 G A 9: 95,998,348 (GRCm38) probably null Het
Zfp362 T A 4: 128,787,031 (GRCm38) H180L probably benign Het
Zfp560 A T 9: 20,347,323 (GRCm38) W748R possibly damaging Het
Zfp808 A T 13: 62,172,664 (GRCm38) Q569L probably benign Het
Zfp93 T A 7: 24,275,218 (GRCm38) D209E possibly damaging 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
R1366:Cyhr1 UTSW 15 76,648,969 (GRCm38) missense probably damaging 0.96
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
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'- GAAGCCCCAATCAGTGCTAC -3'
(R):5'- TTGGGTTGCCACAGTCATCG -3'

Sequencing Primer
(F):5'- GTGCTACAATCACTCCCACTG -3'
(R):5'- GTTGCCACAGTCATCGGTCTG -3'
Posted On 2019-11-26