Incidental Mutation 'R1978:Mybph'
ID 221931
Institutional Source Beutler Lab
Gene Symbol Mybph
Ensembl Gene ENSMUSG00000042451
Gene Name myosin binding protein H
Synonyms
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134121186-134128970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134124734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 185 (H185N)
Ref Sequence ENSEMBL: ENSMUSP00000141104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000191577]
AlphaFold P70402
Predicted Effect probably benign
Transcript: ENSMUST00000038191
SMART Domains Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429

DomainStartEndE-ValueType
Pfam:7tm_4 17 305 1.1e-10 PFAM
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 9.8e-52 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038445
AA Change: H185N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: H185N

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086465
SMART Domains Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 1.9e-63 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169927
SMART Domains Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 1.9e-63 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191577
AA Change: H185N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: H185N

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Cyp4a12b A T 4: 115,295,342 (GRCm39) T483S probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Fam220a C A 5: 143,548,882 (GRCm39) P98Q probably damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Heatr5a A T 12: 51,986,441 (GRCm39) S591T possibly damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Lamc2 A G 1: 153,009,343 (GRCm39) probably null Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or6p1 T A 1: 174,258,657 (GRCm39) I221N probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R probably damaging Het
Other mutations in Mybph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Mybph APN 1 134,121,663 (GRCm39) missense probably benign 0.02
IGL02312:Mybph APN 1 134,125,188 (GRCm39) missense probably damaging 0.99
PIT4581001:Mybph UTSW 1 134,122,479 (GRCm39) missense probably benign 0.00
R0055:Mybph UTSW 1 134,121,590 (GRCm39) missense probably damaging 0.99
R0055:Mybph UTSW 1 134,121,590 (GRCm39) missense probably damaging 0.99
R0346:Mybph UTSW 1 134,125,492 (GRCm39) missense probably damaging 1.00
R0669:Mybph UTSW 1 134,125,081 (GRCm39) splice site probably null
R0765:Mybph UTSW 1 134,125,234 (GRCm39) missense possibly damaging 0.78
R1349:Mybph UTSW 1 134,121,353 (GRCm39) missense probably benign 0.00
R1662:Mybph UTSW 1 134,121,374 (GRCm39) missense probably benign 0.01
R1728:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1729:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1730:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1739:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1762:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1783:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1784:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R1785:Mybph UTSW 1 134,125,218 (GRCm39) missense probably benign 0.00
R2058:Mybph UTSW 1 134,127,857 (GRCm39) missense probably damaging 1.00
R3115:Mybph UTSW 1 134,122,476 (GRCm39) missense probably benign
R4841:Mybph UTSW 1 134,126,233 (GRCm39) missense probably damaging 1.00
R4842:Mybph UTSW 1 134,126,233 (GRCm39) missense probably damaging 1.00
R5208:Mybph UTSW 1 134,121,273 (GRCm39) missense probably benign
R7561:Mybph UTSW 1 134,121,465 (GRCm39) critical splice donor site probably null
R7787:Mybph UTSW 1 134,125,246 (GRCm39) missense probably benign 0.00
R7997:Mybph UTSW 1 134,122,405 (GRCm39) missense probably damaging 1.00
R8673:Mybph UTSW 1 134,126,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACACTGTACAGTCTCTGACC -3'
(R):5'- ACTGGGAAGTAGAGGCCATTTAC -3'

Sequencing Primer
(F):5'- AGTTCTCAGCTCCCCAAGG -3'
(R):5'- GTAGAGGCCATTTACTTCTAGGTCAC -3'
Posted On 2014-08-25