Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02527:Hmmr'

297144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hmmr

Ensembl Gene

ENSMUSG00000020330

Gene Name

hyaluronan mediated motility receptor (RHAMM)

Synonyms

CD168, Rhamm

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02527

Quality Score

Status

Chromosome

Chromosomal Location

40701395-40733422 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40708105 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 564 (L564P)

Ref Sequence

ENSEMBL: ENSMUSP00000020579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020579]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020579
AA Change: L564P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: L564P

Domain	Start	End	E-Value	Type
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,661,433	V868A	probably damaging	Het
Adam25	T	A	8: 40,753,748	I17K	possibly damaging	Het
Arap2	A	T	5: 62,749,307	M123K	probably benign	Het
Asic3	A	G	5: 24,416,277	M332V	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
BC017158	T	A	7: 128,276,231	T317S	possibly damaging	Het
Cand1	A	T	10: 119,206,807	M1126K	probably damaging	Het
Capn3	A	G	2: 120,504,485	T818A	probably damaging	Het
Cda	G	A	4: 138,343,521	Q104*	probably null	Het
Cpeb1	T	C	7: 81,359,887	D234G	probably damaging	Het
Cpq	A	G	15: 33,302,363	Y220C	probably damaging	Het
Diaph3	T	C	14: 86,810,359	K1026R	possibly damaging	Het
Dpep1	T	C	8: 123,198,748	F47L	probably damaging	Het
Dppa4	G	T	16: 48,289,093	R66L	possibly damaging	Het
Elac1	C	A	18: 73,747,233	E31*	probably null	Het
Fggy	A	G	4: 95,697,069	K62E	probably damaging	Het
Ficd	T	A	5: 113,736,966	M32K	probably benign	Het
Foxd4	A	G	19: 24,899,814	S341P	probably benign	Het
Gm4788	T	C	1: 139,753,045	N245S	probably damaging	Het
Gnb4	G	T	3: 32,589,866	T181K	probably benign	Het
Grin2b	T	A	6: 135,923,391	Y164F	probably damaging	Het
Hsd17b4	G	A	18: 50,160,164	V257I	probably benign	Het
Itga10	C	A	3: 96,655,624		probably benign	Het
Kcnk18	T	C	19: 59,235,275	V284A	probably damaging	Het
Klf11	T	A	12: 24,655,323	S259T	probably benign	Het
Kmt2d	C	T	15: 98,841,747		probably benign	Het
Manea	A	G	4: 26,336,619		probably null	Het
Mybl1	T	C	1: 9,690,148	H75R	probably damaging	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Neb	A	G	2: 52,149,213	I6938T	probably benign	Het
Ntrk3	T	C	7: 78,451,949	D412G	probably benign	Het
Olah	T	C	2: 3,342,942	E211G	probably damaging	Het
Olfr1123	T	C	2: 87,418,837	L261S	probably damaging	Het
Paxbp1	A	T	16: 91,037,273	N208K	possibly damaging	Het
Prrc1	T	A	18: 57,389,347	M417K	probably benign	Het
Ptprq	G	A	10: 107,686,563	T543M	probably benign	Het
Rasal1	T	C	5: 120,666,404	V447A	probably damaging	Het
Rbl1	T	C	2: 157,194,048	E287G	probably benign	Het
Tec	A	G	5: 72,779,415		probably null	Het
Tex26	A	G	5: 149,456,942	D61G	probably damaging	Het
Tgfb1i1	G	A	7: 128,252,562		probably benign	Het
Tmem132c	T	C	5: 127,359,611	Y55H	possibly damaging	Het
Tmem63a	T	A	1: 180,952,974		probably null	Het
Umod	C	T	7: 119,469,467	G452D	probably damaging	Het
Vcan	G	A	13: 89,690,657	T2256I	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,793	I29K	probably benign	Het
Vmn2r117	A	G	17: 23,477,225	Y403H	possibly damaging	Het
Vmn2r124	A	T	17: 18,066,502		probably null	Het
Vmn2r65	T	A	7: 84,946,516	K320M	possibly damaging	Het

Other mutations in Hmmr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02870:Hmmr	APN	11	40714075	missense	possibly damaging	0.63
IGL03175:Hmmr	APN	11	40714809	missense	probably benign	0.02
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	splice site	probably null
R7558:Hmmr	UTSW	11	40733329	missense	probably damaging	1.00
R7965:Hmmr	UTSW	11	40715429	splice site	probably null
R8065:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8066:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8255:Hmmr	UTSW	11	40707435	missense	probably damaging	1.00
R8303:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8304:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8306:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8307:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8308:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8387:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8743:Hmmr	UTSW	11	40708031	missense	probably damaging	1.00
T0975:Hmmr	UTSW	11	40723416	missense	probably damaging	1.00

Posted On

2015-04-16