Incidental Mutation 'R5759:Mybphl'
ID 445177
Institutional Source Beutler Lab
Gene Symbol Mybphl
Ensembl Gene ENSMUSG00000068745
Gene Name myosin binding protein H-like
Synonyms
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108364911-108380057 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108374754 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 100 (V100A)
Ref Sequence ENSEMBL: ENSMUSP00000088051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090563]
AlphaFold Q5FW53
Predicted Effect probably benign
Transcript: ENSMUST00000090563
AA Change: V100A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: V100A

DomainStartEndE-ValueType
IG 61 144 4.67e-4 SMART
FN3 147 229 1.62e-10 SMART
IG 268 352 3.68e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142833
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,068,658 S1203P probably benign Het
Adamts1 A G 16: 85,798,048 V341A possibly damaging Het
AF529169 A T 9: 89,601,072 N757K probably benign Het
Arf2 G A 11: 103,983,633 G144S probably benign Het
Atr A G 9: 95,874,402 N862D probably benign Het
Cep295nl T C 11: 118,333,646 H124R possibly damaging Het
Chd6 C T 2: 160,983,762 V1141I possibly damaging Het
Chst5 C A 8: 111,890,210 K259N probably benign Het
Dchs1 T A 7: 105,764,176 D1144V probably damaging Het
Dmxl2 T C 9: 54,375,508 Y2795C probably damaging Het
Dnah7b A G 1: 46,277,120 N3131S probably damaging Het
Dnah7c G A 1: 46,615,367 G1436R probably damaging Het
Emp2 T A 16: 10,284,510 Y146F probably damaging Het
Exoc6 C T 19: 37,573,741 Q148* probably null Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fam186b T G 15: 99,279,717 Y576S probably benign Het
Fras1 T C 5: 96,709,916 V2023A probably benign Het
Gm14409 A T 2: 177,264,972 C244* probably null Het
Grm5 A C 7: 88,026,600 M441L probably damaging Het
Hhatl A G 9: 121,788,277 Y297H probably damaging Het
Ifi30 A G 8: 70,766,544 probably benign Het
Ing2 G T 8: 47,669,005 N169K possibly damaging Het
Kat6a T G 8: 22,938,012 S1128A probably benign Het
Madd T C 2: 91,162,075 E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,808,748 probably null Het
Mfsd5 G A 15: 102,281,078 G295D possibly damaging Het
Mmp20 T A 9: 7,628,377 probably null Het
Ndfip2 T A 14: 105,302,316 probably null Het
Olfr862 A G 9: 19,884,188 V39A probably benign Het
Olfr869 T A 9: 20,137,932 V272E probably benign Het
Olfr905 T A 9: 38,473,535 S263T possibly damaging Het
Phf19 T G 2: 34,897,123 D443A probably damaging Het
Piezo1 A G 8: 122,507,655 V84A probably damaging Het
Sept9 A G 11: 117,352,268 I94V probably benign Het
Slc35a1 C A 4: 34,675,032 V132L probably benign Het
Sntg1 G A 1: 8,414,270 S442L probably benign Het
Tcf25 A G 8: 123,381,457 T84A probably benign Het
Tchhl1 C G 3: 93,471,556 S522R probably damaging Het
Tmem106b A G 6: 13,075,042 E76G probably damaging Het
Tnk2 C T 16: 32,680,664 P932S probably benign Het
Trib1 G A 15: 59,654,501 V307I probably benign Het
Trib3 A T 2: 152,343,295 D11E probably benign Het
Trim34b T C 7: 104,331,433 S243P possibly damaging Het
Vmn2r50 A G 7: 10,047,978 I280T probably damaging Het
Zfp445 G T 9: 122,853,146 Q577K probably benign Het
Zfp599 T C 9: 22,249,661 K403E probably damaging Het
Other mutations in Mybphl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Mybphl APN 3 108364998 start codon destroyed probably null 0.98
IGL03389:Mybphl APN 3 108375718 missense probably benign 0.09
R0194:Mybphl UTSW 3 108374168 missense probably benign 0.01
R0206:Mybphl UTSW 3 108375415 missense probably damaging 1.00
R0206:Mybphl UTSW 3 108375415 missense probably damaging 1.00
R0208:Mybphl UTSW 3 108375415 missense probably damaging 1.00
R1067:Mybphl UTSW 3 108365003 missense probably benign
R1223:Mybphl UTSW 3 108375196 missense possibly damaging 0.81
R1748:Mybphl UTSW 3 108375084 critical splice acceptor site probably null
R2013:Mybphl UTSW 3 108375402 missense probably benign 0.02
R2102:Mybphl UTSW 3 108375633 missense possibly damaging 0.82
R2121:Mybphl UTSW 3 108375176 missense probably damaging 1.00
R2197:Mybphl UTSW 3 108377319 missense probably damaging 1.00
R2265:Mybphl UTSW 3 108365001 missense probably damaging 1.00
R2266:Mybphl UTSW 3 108365001 missense probably damaging 1.00
R2267:Mybphl UTSW 3 108365001 missense probably damaging 1.00
R2268:Mybphl UTSW 3 108365001 missense probably damaging 1.00
R4551:Mybphl UTSW 3 108374163 missense possibly damaging 0.49
R4570:Mybphl UTSW 3 108365031 missense possibly damaging 0.61
R4693:Mybphl UTSW 3 108375178 missense probably benign 0.01
R7017:Mybphl UTSW 3 108374838 missense probably damaging 0.99
R7526:Mybphl UTSW 3 108374180 missense probably benign 0.00
R8266:Mybphl UTSW 3 108377360 missense probably damaging 1.00
R8976:Mybphl UTSW 3 108365018 missense probably damaging 1.00
R9440:Mybphl UTSW 3 108374886 missense probably benign 0.19
R9617:Mybphl UTSW 3 108375636 missense possibly damaging 0.68
R9655:Mybphl UTSW 3 108374783 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTCTAGCTCAAGGAATGTCAAG -3'
(R):5'- ACCGTGTCTGAGACTCTCTG -3'

Sequencing Primer
(F):5'- GCTCAAGGAATGTCAAGATATCC -3'
(R):5'- GATAGCTCCTATTCAGCCCAGAGATG -3'
Posted On 2016-11-21