Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Hmmr'

49332

Institutional Source

Beutler Lab

Gene Symbol

Hmmr

Ensembl Gene

ENSMUSG00000020330

Gene Name

hyaluronan mediated motility receptor (RHAMM)

Synonyms

CD168, Rhamm

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40701395-40733422 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40709989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 518 (V518A)

Ref Sequence

ENSEMBL: ENSMUSP00000020579 (fasta)

Gene Model

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

AlphaFold

Q00547

Predicted Effect

unknown
Transcript: ENSMUST00000020579
AA Change: V518A

SMART Domains

Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: V518A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	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
IGL02527:Hmmr	APN	11	40708105	missense	probably damaging	1.00
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
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
R8817:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8820:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8829:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8831:Hmmr	UTSW	11	40721672	missense	probably damaging	1.00
R8838:Hmmr	UTSW	11	40714027	missense	probably benign	0.00
R9312:Hmmr	UTSW	11	40723489	missense	possibly damaging	0.77
R9453:Hmmr	UTSW	11	40721828	critical splice donor site	probably null
R9468:Hmmr	UTSW	11	40723487	nonsense	probably null
R9601:Hmmr	UTSW	11	40707383	nonsense	probably null
T0975:Hmmr	UTSW	11	40723416	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGCAGCCATCATCCACTGGAG -3'
(R):5'- GCCCAAGCCATCTTGATTGCAC -3'

Sequencing Primer
(F):5'- ACCTTTCCAACTGAGCAGTG -3'
(R):5'- GCCATCTTGATTGCACAAGAG -3'

Posted On

2013-06-12