Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Hmmr'

673702

Institutional Source

Beutler Lab

Gene Symbol

Hmmr

Ensembl Gene

ENSMUSG00000020330

Gene Name

hyaluronan mediated motility receptor (RHAMM)

Synonyms

CD168, Rhamm

MMRRC Submission

068731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40592222-40624249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40612499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 206 (S206F)

Ref Sequence

ENSEMBL: ENSMUSP00000020579 (fasta)

Gene Model

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

AlphaFold

Q00547

Predicted Effect

probably damaging
Transcript: ENSMUST00000020579
AA Change: S206F

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

SMART Domains

Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330
AA Change: S206F

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

0.0706

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	T	3: 59,939,240 (GRCm39)	I5F	probably benign	Het
Abca13	A	T	11: 9,571,881 (GRCm39)	D4814V	probably damaging	Het
Adgrl1	A	G	8: 84,665,458 (GRCm39)	N1382D		Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
B3galt9	T	A	2: 34,728,634 (GRCm39)	N144K	probably benign	Het
Bach2	A	T	4: 32,562,028 (GRCm39)	E165V	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Ccpg1	A	T	9: 72,917,633 (GRCm39)	D255V	probably benign	Het
Cdhr2	A	T	13: 54,865,930 (GRCm39)	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,042,920 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,717,582 (GRCm39)	D2216G	probably benign	Het
Cenpu	T	C	8: 47,026,496 (GRCm39)	L294P	probably damaging	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Ctnna2	G	A	6: 77,582,205 (GRCm39)	R352*	probably null	Het
D630003M21Rik	C	A	2: 158,058,856 (GRCm39)	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,294,051 (GRCm39)	Q236*	probably null	Het
Ddx60	T	G	8: 62,393,695 (GRCm39)	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Frem1	T	C	4: 82,918,431 (GRCm39)	R504G	probably damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gprc6a	A	C	10: 51,491,295 (GRCm39)	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,574,179 (GRCm39)	Y118H	probably damaging	Het
Htr1d	A	T	4: 136,170,554 (GRCm39)	H261L	probably benign	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,459,534 (GRCm39)	V21A	probably benign	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Knstrn	C	T	2: 118,654,222 (GRCm39)	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,214,084 (GRCm39)	K22N	probably damaging	Het
Mpo	T	A	11: 87,694,250 (GRCm39)	F660Y	probably damaging	Het
Myb	A	T	10: 21,021,130 (GRCm39)	L433H	probably damaging	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Ncoa3	A	G	2: 165,892,068 (GRCm39)	Y148C	probably damaging	Het
Nktr	T	A	9: 121,583,330 (GRCm39)	S1432T	unknown	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or6x1	T	A	9: 40,099,209 (GRCm39)	F266Y	probably benign	Het
Or8d23	G	T	9: 38,842,190 (GRCm39)	C241F	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pcx	A	G	19: 4,651,968 (GRCm39)	D72G	probably damaging	Het
Pebp4	A	G	14: 70,285,916 (GRCm39)	D193G	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Piezo1	A	C	8: 123,217,753 (GRCm39)	M1265R		Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptger3	A	G	3: 157,273,423 (GRCm39)	T257A	probably damaging	Het
Relt	T	A	7: 100,499,479 (GRCm39)	S147C	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,313,961 (GRCm39)	D1919V	probably benign	Het
Septin8	G	A	11: 53,422,865 (GRCm39)	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,443,257 (GRCm39)	I19V	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Syne1	T	C	10: 5,058,685 (GRCm39)	E7276G	probably benign	Het
Syt1	C	A	10: 108,478,193 (GRCm39)	C77F	probably benign	Het
Tcf20	T	A	15: 82,739,915 (GRCm39)	K512M	probably damaging	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trank1	T	C	9: 111,176,591 (GRCm39)	S288P	probably benign	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Ttbk1	C	A	17: 46,757,821 (GRCm39)	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,192,344 (GRCm39)	Y418*	probably null	Het

Other mutations in Hmmr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01795:Hmmr	APN	11	40,612,561 (GRCm39)	missense	probably benign	0.25
IGL02096:Hmmr	APN	11	40,598,256 (GRCm39)	missense	probably benign	0.02
IGL02224:Hmmr	APN	11	40,600,831 (GRCm39)	missense	unknown
IGL02527:Hmmr	APN	11	40,598,932 (GRCm39)	missense	probably damaging	1.00
IGL02870:Hmmr	APN	11	40,604,902 (GRCm39)	missense	possibly damaging	0.63
IGL03175:Hmmr	APN	11	40,605,636 (GRCm39)	missense	probably benign	0.02
IGL03327:Hmmr	APN	11	40,606,242 (GRCm39)	missense	probably damaging	1.00
R0126:Hmmr	UTSW	11	40,596,781 (GRCm39)	missense	probably damaging	1.00
R0211:Hmmr	UTSW	11	40,605,635 (GRCm39)	missense	probably damaging	0.96
R0533:Hmmr	UTSW	11	40,600,816 (GRCm39)	missense	unknown
R0610:Hmmr	UTSW	11	40,606,729 (GRCm39)	missense	probably damaging	1.00
R0747:Hmmr	UTSW	11	40,612,572 (GRCm39)	splice site	probably benign
R1909:Hmmr	UTSW	11	40,598,925 (GRCm39)	missense	probably damaging	1.00
R2013:Hmmr	UTSW	11	40,619,259 (GRCm39)	missense	possibly damaging	0.85
R4446:Hmmr	UTSW	11	40,606,148 (GRCm39)	missense	probably damaging	1.00
R4897:Hmmr	UTSW	11	40,619,261 (GRCm39)	missense	probably benign	0.00
R4937:Hmmr	UTSW	11	40,612,667 (GRCm39)	missense	possibly damaging	0.90
R5795:Hmmr	UTSW	11	40,612,733 (GRCm39)	missense	probably damaging	1.00
R5873:Hmmr	UTSW	11	40,598,527 (GRCm39)	missense	probably damaging	0.99
R6414:Hmmr	UTSW	11	40,606,694 (GRCm39)	critical splice donor site	probably null
R6962:Hmmr	UTSW	11	40,598,242 (GRCm39)	missense	probably damaging	1.00
R7391:Hmmr	UTSW	11	40,598,613 (GRCm39)	splice site	probably null
R7558:Hmmr	UTSW	11	40,624,156 (GRCm39)	missense	probably damaging	1.00
R7965:Hmmr	UTSW	11	40,606,256 (GRCm39)	splice site	probably null
R8065:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8066:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8255:Hmmr	UTSW	11	40,598,262 (GRCm39)	missense	probably damaging	1.00
R8303:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8304:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8306:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8307:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8308:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8387:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8743:Hmmr	UTSW	11	40,598,858 (GRCm39)	missense	probably damaging	1.00
R8817:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8820:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8831:Hmmr	UTSW	11	40,612,499 (GRCm39)	missense	probably damaging	1.00
R8838:Hmmr	UTSW	11	40,604,854 (GRCm39)	missense	probably benign	0.00
R9312:Hmmr	UTSW	11	40,614,316 (GRCm39)	missense	possibly damaging	0.77
R9453:Hmmr	UTSW	11	40,612,655 (GRCm39)	critical splice donor site	probably null
R9468:Hmmr	UTSW	11	40,614,314 (GRCm39)	nonsense	probably null
R9601:Hmmr	UTSW	11	40,598,210 (GRCm39)	nonsense	probably null
T0975:Hmmr	UTSW	11	40,614,243 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAAAGCTGGGCTGTTTTC -3'
(R):5'- GCCTGGAATTGATGAAACTCAG -3'

Sequencing Primer
(F):5'- CTGTTTTCAGTATAACGAAACGAGG -3'
(R):5'- AATAAGAGAGAGACAAAGATGAGGG -3'

Posted On

2021-07-15