Incidental Mutation 'R2267:Mybphl'
ID 242101
Institutional Source Beutler Lab
Gene Symbol Mybphl
Ensembl Gene ENSMUSG00000068745
Gene Name myosin binding protein H-like
Synonyms 1110037P11Rik
MMRRC Submission 040267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2267 (G1)
Quality Score 224
Status Validated
Chromosome 3
Chromosomal Location 108272227-108287373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108272317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2 (E2G)
Ref Sequence ENSEMBL: ENSMUSP00000088051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090563] [ENSMUST00000102632] [ENSMUST00000135636]
AlphaFold Q5FW53
Predicted Effect probably damaging
Transcript: ENSMUST00000090563
AA Change: E2G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: E2G

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 probably benign
Transcript: ENSMUST00000102632
SMART Domains Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 59 79 N/A INTRINSIC
VPS10 131 743 N/A SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129755
Predicted Effect probably benign
Transcript: ENSMUST00000135636
SMART Domains Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747

DomainStartEndE-ValueType
VPS10 1 218 2.3e-5 SMART
transmembrane domain 262 284 N/A INTRINSIC
Meta Mutation Damage Score 0.0866 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (108/110)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8b G A 11: 109,845,974 (GRCm39) T820M probably benign Het
Acot2 C T 12: 84,037,334 (GRCm39) A216V probably damaging Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ak7 T C 12: 105,713,473 (GRCm39) V419A probably benign Het
Apmap A G 2: 150,430,821 (GRCm39) probably null Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Cachd1 T A 4: 100,806,266 (GRCm39) probably benign Het
Ccdc39 T A 3: 33,869,633 (GRCm39) E731D probably damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgke T A 11: 88,943,295 (GRCm39) E231D probably benign Het
Dhrs9 A G 2: 69,223,197 (GRCm39) probably benign Het
Dhx30 C T 9: 109,916,102 (GRCm39) G662R probably damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnah7b T A 1: 46,273,075 (GRCm39) M2401K probably damaging Het
Dnmt3a T A 12: 3,947,551 (GRCm39) probably null Het
Dst C T 1: 34,334,547 (GRCm39) T4874I probably damaging Het
Eef2kmt G A 16: 5,073,804 (GRCm39) probably benign Het
Ess2 T C 16: 17,727,859 (GRCm39) T107A probably damaging Het
Etfa A T 9: 55,394,015 (GRCm39) L212Q probably damaging Het
Exosc5 T C 7: 25,363,809 (GRCm39) L107P possibly damaging Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fam186b T G 15: 99,183,524 (GRCm39) D40A probably damaging Het
Fga T C 3: 82,940,257 (GRCm39) L637P probably damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gcc1 A G 6: 28,418,498 (GRCm39) S612P probably benign Het
Gjd3 C T 11: 98,873,227 (GRCm39) V206M probably damaging Het
Gpam A T 19: 55,061,142 (GRCm39) probably null Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Gphb5 C G 12: 75,459,720 (GRCm39) V92L probably benign Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
Gsdmc T C 15: 63,648,647 (GRCm39) E429G probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 T C 1: 150,474,761 (GRCm39) S4709G probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnt2 G A 1: 140,501,421 (GRCm39) probably null Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Klrb1 A T 6: 128,699,937 (GRCm39) S25T probably damaging Het
L3mbtl3 C T 10: 26,207,755 (GRCm39) W321* probably null Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrtm1 C A 6: 77,220,996 (GRCm39) A151E probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mcc T C 18: 44,652,608 (GRCm39) D272G probably damaging Het
Mgst3 T A 1: 167,201,368 (GRCm39) T106S probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mlh3 G T 12: 85,307,585 (GRCm39) H1181N possibly damaging Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mro T C 18: 74,006,368 (GRCm39) I104T probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Neurod2 C A 11: 98,218,582 (GRCm39) C194F probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Nup205 T C 6: 35,218,284 (GRCm39) S1819P possibly damaging Het
Obsl1 T C 1: 75,482,342 (GRCm39) H176R probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or7g21 A T 9: 19,032,737 (GRCm39) H162L probably benign Het
Or8d2b A G 9: 38,789,359 (GRCm39) T296A probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Plxnd1 A G 6: 115,939,704 (GRCm39) V1425A probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Ptpn12 A T 5: 21,203,409 (GRCm39) N456K probably damaging Het
Scarb1 A T 5: 125,364,439 (GRCm39) S97T possibly damaging Het
Scyl1 C T 19: 5,811,749 (GRCm39) D440N possibly damaging Het
Sema5a C A 15: 32,575,065 (GRCm39) T391K probably benign Het
Sipa1l3 T A 7: 29,099,027 (GRCm39) N414I probably damaging Het
Skint6 T C 4: 112,700,019 (GRCm39) probably null Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spib T A 7: 44,178,348 (GRCm39) M141L probably benign Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Taf15 T G 11: 83,388,088 (GRCm39) S200R probably damaging Het
Tanc1 G A 2: 59,667,563 (GRCm39) probably null Het
Tas2r134 A G 2: 51,518,249 (GRCm39) T243A probably benign Het
Tatdn1 A T 15: 58,777,601 (GRCm39) M218K probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmprss11d A G 5: 86,521,208 (GRCm39) Y2H probably benign Het
Trps1 G A 15: 50,685,794 (GRCm39) R544C probably damaging Het
Ttc22 T C 4: 106,496,282 (GRCm39) V444A possibly damaging Het
Ttc28 A G 5: 111,373,869 (GRCm39) T1071A possibly damaging Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Ube2j1 T A 4: 33,049,943 (GRCm39) F257I possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Wwp1 T C 4: 19,638,618 (GRCm39) D575G probably damaging Het
Other mutations in Mybphl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03365:Mybphl APN 3 108,272,314 (GRCm39) start codon destroyed probably null 0.98
IGL03389:Mybphl APN 3 108,283,034 (GRCm39) missense probably benign 0.09
R0194:Mybphl UTSW 3 108,281,484 (GRCm39) missense probably benign 0.01
R0206:Mybphl UTSW 3 108,282,731 (GRCm39) missense probably damaging 1.00
R0206:Mybphl UTSW 3 108,282,731 (GRCm39) missense probably damaging 1.00
R0208:Mybphl UTSW 3 108,282,731 (GRCm39) missense probably damaging 1.00
R1067:Mybphl UTSW 3 108,272,319 (GRCm39) missense probably benign
R1223:Mybphl UTSW 3 108,282,512 (GRCm39) missense possibly damaging 0.81
R1748:Mybphl UTSW 3 108,282,400 (GRCm39) critical splice acceptor site probably null
R2013:Mybphl UTSW 3 108,282,718 (GRCm39) missense probably benign 0.02
R2102:Mybphl UTSW 3 108,282,949 (GRCm39) missense possibly damaging 0.82
R2121:Mybphl UTSW 3 108,282,492 (GRCm39) missense probably damaging 1.00
R2197:Mybphl UTSW 3 108,284,635 (GRCm39) missense probably damaging 1.00
R2265:Mybphl UTSW 3 108,272,317 (GRCm39) missense probably damaging 1.00
R2266:Mybphl UTSW 3 108,272,317 (GRCm39) missense probably damaging 1.00
R2268:Mybphl UTSW 3 108,272,317 (GRCm39) missense probably damaging 1.00
R4551:Mybphl UTSW 3 108,281,479 (GRCm39) missense possibly damaging 0.49
R4570:Mybphl UTSW 3 108,272,347 (GRCm39) missense possibly damaging 0.61
R4693:Mybphl UTSW 3 108,282,494 (GRCm39) missense probably benign 0.01
R5759:Mybphl UTSW 3 108,282,070 (GRCm39) missense probably benign 0.30
R7017:Mybphl UTSW 3 108,282,154 (GRCm39) missense probably damaging 0.99
R7526:Mybphl UTSW 3 108,281,496 (GRCm39) missense probably benign 0.00
R8266:Mybphl UTSW 3 108,284,676 (GRCm39) missense probably damaging 1.00
R8976:Mybphl UTSW 3 108,272,334 (GRCm39) missense probably damaging 1.00
R9440:Mybphl UTSW 3 108,282,202 (GRCm39) missense probably benign 0.19
R9617:Mybphl UTSW 3 108,282,952 (GRCm39) missense possibly damaging 0.68
R9655:Mybphl UTSW 3 108,282,099 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTGGGCAGCTCTCTGATC -3'
(R):5'- AGCAGTAGGAAGTTCCCCTC -3'

Sequencing Primer
(F):5'- GGCAGCTCTCTGATCCTCCTC -3'
(R):5'- AGTAGGAAGTTCCCCTCTCCCAC -3'
Posted On 2014-10-16