Incidental Mutation 'R2266:Mybphl'
ID 242013
Institutional Source Beutler Lab
Gene Symbol Mybphl
Ensembl Gene ENSMUSG00000068745
Gene Name myosin binding protein H-like
Synonyms
MMRRC Submission 040266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2266 (G1)
Quality Score 213
Status Validated
Chromosome 3
Chromosomal Location 108364911-108380057 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108365001 bp (GRCm38)
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
4930578C19Rik A G X: 18,423,687 S179P possibly damaging Het
Aadac T A 3: 60,037,316 D136E probably damaging Het
Agrn C T 4: 156,179,218 G173R probably damaging Het
AI314180 A T 4: 58,830,332 probably null Het
Apob T C 12: 8,015,475 F4115S possibly damaging Het
Bsn T A 9: 108,115,124 D1143V probably damaging Het
Cacna2d2 T C 9: 107,513,280 V317A probably damaging Het
Cdh1 G A 8: 106,662,003 V564I probably benign Het
Cep250 T C 2: 155,976,170 V814A probably benign Het
Ces2a A T 8: 104,740,190 I65F probably benign Het
Commd8 A G 5: 72,165,422 W51R probably damaging Het
Cyb561d1 A T 3: 108,199,404 H166Q probably damaging Het
Dcun1d4 T A 5: 73,481,275 probably benign Het
Dgkd A G 1: 87,927,818 probably benign Het
Dnajc28 T C 16: 91,616,312 N372S probably benign Het
Eid1 A G 2: 125,673,424 D78G possibly damaging Het
Emid1 T A 11: 5,144,331 Q60L probably damaging Het
Fam135a A T 1: 24,028,797 V801E probably benign Het
Foxh1 A G 15: 76,668,620 V298A probably benign Het
Foxn4 T C 5: 114,255,601 T486A probably damaging Het
Gpc6 A T 14: 117,888,520 probably null Het
Grid2ip C T 5: 143,386,092 P690L probably benign Het
Hdhd2 C T 18: 76,965,170 T172M probably benign Het
Hist1h2bh T C 13: 23,542,992 K121E possibly damaging Het
Hr A T 14: 70,558,107 D393V probably benign Het
Ido2 T C 8: 24,535,252 Y253C probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 74 probably benign Het
Klra10 A G 6: 130,269,301 V237A probably benign Het
Klre1 A G 6: 129,585,630 K206R probably benign Het
Lama2 T C 10: 26,986,797 D2990G probably benign Het
Magi3 G A 3: 104,021,066 probably benign Het
Mamdc2 A T 19: 23,303,903 probably benign Het
Med23 T G 10: 24,874,601 S109A probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Mtss1l A G 8: 110,728,730 K92E possibly damaging Het
Naip6 A G 13: 100,283,559 V1401A possibly damaging Het
Ncapg2 A G 12: 116,429,676 E500G probably damaging Het
Nlrp12 T C 7: 3,233,945 I775V probably benign Het
Nr4a2 T A 2: 57,112,006 D145V possibly damaging Het
Ntmt1 C A 2: 30,820,460 N58K probably benign Het
P2ry13 T C 3: 59,210,028 M110V probably damaging Het
P2ry14 T C 3: 59,115,571 N165S probably damaging Het
Plch2 T C 4: 154,993,004 E423G probably benign Het
Polq C A 16: 37,062,153 Q1560K possibly damaging Het
Prrc1 G T 18: 57,381,646 D312Y probably damaging Het
Ptprm A T 17: 66,725,851 probably null Het
Ripk2 A T 4: 16,152,011 S183T possibly damaging Het
Robo1 T A 16: 72,978,772 F728L probably benign Het
Rttn A G 18: 89,064,171 N1407S probably benign Het
Sec14l1 A T 11: 117,156,488 H664L probably damaging Het
Slc10a7 G A 8: 78,509,635 G21S probably benign Het
Slc35a3 T C 3: 116,673,636 K325E possibly damaging Het
Spag17 C A 3: 100,061,866 probably null Het
Spesp1 A T 9: 62,273,552 L25M probably damaging Het
St6galnac1 G A 11: 116,767,847 Q264* probably null Het
Tbc1d14 A G 5: 36,543,217 L269P possibly damaging Het
Tgfbr3l A G 8: 4,250,506 E228G probably benign Het
Tlr5 T A 1: 182,975,035 S635T possibly damaging Het
Tmem233 G C 5: 116,051,458 probably benign Het
Tnfsf13b A T 8: 10,007,306 R125S probably benign Het
Tymp A T 15: 89,373,808 V378D probably damaging Het
Vmn1r38 G T 6: 66,776,449 Q228K probably benign Het
Vmn2r18 T C 5: 151,586,662 E82G probably damaging Het
Vps13c T C 9: 67,920,947 V1461A possibly damaging Het
Xrn1 A G 9: 96,006,712 D948G possibly damaging Het
Zfp280d C A 9: 72,301,770 probably benign Het
Zfp418 G A 7: 7,182,808 R590K probably benign 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
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
R5759:Mybphl UTSW 3 108374754 missense probably benign 0.30
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'- ATTCTGGGCAGCTCTCTGATC -3'
(R):5'- AGTAGGAAGTTCCCCTCTCC -3'

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