Incidental Mutation 'R2266:Mybphl'
ID 242013
Institutional Source Beutler Lab
Gene Symbol Mybphl
Ensembl Gene ENSMUSG00000068745
Gene Name myosin binding protein H-like
Synonyms 1110037P11Rik
MMRRC Submission 040266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2266 (G1)
Quality Score 213
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bsn T A 9: 107,992,323 (GRCm39) D1143V probably damaging Het
Cacna2d2 T C 9: 107,390,479 (GRCm39) V317A probably damaging Het
Cdh1 G A 8: 107,388,635 (GRCm39) V564I probably benign Het
Cep250 T C 2: 155,818,090 (GRCm39) V814A probably benign 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
Cyb561d1 A T 3: 108,106,720 (GRCm39) H166Q probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgkd A G 1: 87,855,540 (GRCm39) probably benign Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Ecpas A T 4: 58,830,332 (GRCm39) probably null Het
Eid1 A G 2: 125,515,344 (GRCm39) D78G possibly damaging Het
Emid1 T A 11: 5,094,331 (GRCm39) Q60L probably damaging Het
Fam135a A T 1: 24,067,878 (GRCm39) V801E probably benign Het
Foxh1 A G 15: 76,552,820 (GRCm39) V298A probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M 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
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klra10 A G 6: 130,246,264 (GRCm39) V237A probably benign Het
Klre1 A G 6: 129,562,593 (GRCm39) K206R probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Med23 T G 10: 24,750,499 (GRCm39) S109A probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Naip6 A G 13: 100,420,067 (GRCm39) V1401A possibly damaging Het
Ncapg2 A G 12: 116,393,296 (GRCm39) E500G probably damaging Het
Nlrp12 T C 7: 3,282,575 (GRCm39) I775V probably benign 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
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Polq C A 16: 36,882,515 (GRCm39) Q1560K possibly damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Ptprm A T 17: 67,032,846 (GRCm39) probably null Het
Ripk2 A T 4: 16,152,011 (GRCm39) S183T possibly damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rttn A G 18: 89,082,295 (GRCm39) N1407S probably benign Het
Sec14l1 A T 11: 117,047,314 (GRCm39) H664L probably damaging Het
Slc10a7 G A 8: 79,236,264 (GRCm39) G21S probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spesp1 A T 9: 62,180,834 (GRCm39) L25M probably damaging Het
St6galnac1 G A 11: 116,658,673 (GRCm39) Q264* probably null Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tnfsf13b A T 8: 10,057,306 (GRCm39) R125S probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vmn1r38 G T 6: 66,753,433 (GRCm39) Q228K probably benign Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Xrn1 A G 9: 95,888,765 (GRCm39) D948G possibly damaging Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zfp418 G A 7: 7,185,807 (GRCm39) R590K probably benign 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
R2267: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'- AGTAGGAAGTTCCCCTCTCC -3'

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