Incidental Mutation 'IGL03175:Hmmr'
ID411984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmmr
Ensembl Gene ENSMUSG00000020330
Gene Namehyaluronan mediated motility receptor (RHAMM)
SynonymsCD168, Rhamm
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03175
Quality Score
Status
Chromosome11
Chromosomal Location40701395-40733422 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40714809 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 318 (M318V)
Ref Sequence ENSEMBL: ENSMUSP00000020579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020579]
Predicted Effect probably benign
Transcript: ENSMUST00000020579
AA Change: M318V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: M318V

DomainStartEndE-ValueType
Pfam:HMMR_N 15 339 1.2e-136 PFAM
low complexity region 375 385 N/A INTRINSIC
low complexity region 430 442 N/A INTRINSIC
Blast:MA 452 578 7e-6 BLAST
Pfam:HMMR_C 636 789 4.3e-71 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T C 12: 84,075,329 L229P probably damaging Het
Adamts20 C T 15: 94,273,255 W1862* probably null Het
Adgrg6 A G 10: 14,439,758 S601P probably benign Het
Bpifb3 T C 2: 153,919,648 Y6H unknown Het
Calr3 A G 8: 72,443,605 F27L probably damaging Het
Ckap2l T C 2: 129,285,517 Q247R probably benign Het
Cldn20 T C 17: 3,533,134 I194T probably benign Het
Col22a1 G A 15: 71,969,103 P468S possibly damaging Het
Cyp2c54 T A 19: 40,070,228 E253D probably benign Het
Efemp1 A T 11: 28,926,259 T475S probably benign Het
Fam98b A G 2: 117,259,238 S79G probably benign Het
Galnt14 C A 17: 73,522,654 D299Y probably damaging Het
Hecw2 T C 1: 53,926,257 E470G possibly damaging Het
Il17rd T A 14: 27,100,006 I419K probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nlrp4f A G 13: 65,194,596 F412L probably damaging Het
Olfr481 C A 7: 108,081,718 T308K probably benign Het
Sel1l3 A G 5: 53,121,857 Y955H probably damaging Het
Slc4a10 A G 2: 62,296,960 I916V probably damaging Het
Smg9 A G 7: 24,422,305 H497R probably damaging Het
Tpp2 T C 1: 43,973,511 I635T probably benign Het
Usp34 T C 11: 23,488,686 V3416A probably benign Het
Other mutations in Hmmr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01795:Hmmr APN 11 40721734 missense probably benign 0.25
IGL02096:Hmmr APN 11 40707429 missense probably benign 0.02
IGL02224:Hmmr APN 11 40710004 missense unknown
IGL02527:Hmmr APN 11 40708105 missense probably damaging 1.00
IGL02870:Hmmr APN 11 40714075 missense possibly damaging 0.63
IGL03327:Hmmr APN 11 40715415 missense probably damaging 1.00
R0126:Hmmr UTSW 11 40705954 missense probably damaging 1.00
R0211:Hmmr UTSW 11 40714808 missense probably damaging 0.96
R0533:Hmmr UTSW 11 40709989 missense unknown
R0610:Hmmr UTSW 11 40715902 missense probably damaging 1.00
R0747:Hmmr UTSW 11 40721745 splice site probably benign
R1909:Hmmr UTSW 11 40708098 missense probably damaging 1.00
R2013:Hmmr UTSW 11 40728432 missense possibly damaging 0.85
R4446:Hmmr UTSW 11 40715321 missense probably damaging 1.00
R4897:Hmmr UTSW 11 40728434 missense probably benign 0.00
R4937:Hmmr UTSW 11 40721840 missense possibly damaging 0.90
R5795:Hmmr UTSW 11 40721906 missense probably damaging 1.00
R5873:Hmmr UTSW 11 40707700 missense probably damaging 0.99
R6414:Hmmr UTSW 11 40715867 critical splice donor site probably null
R6962:Hmmr UTSW 11 40707415 missense probably damaging 1.00
R7391:Hmmr UTSW 11 40707786 intron probably null
R7558:Hmmr UTSW 11 40733329 missense probably damaging 1.00
R8065:Hmmr UTSW 11 40721672 missense probably damaging 1.00
R8066:Hmmr UTSW 11 40721672 missense probably damaging 1.00
T0975:Hmmr UTSW 11 40723416 missense probably damaging 1.00
Posted On2016-08-02