Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03175:Hmmr'

411984

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03175

Quality Score

Status

Chromosome

Chromosomal Location

40592222-40624249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40605636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 318 (M318V)

Ref Sequence

ENSEMBL: ENSMUSP00000020579 (fasta)

Gene Model

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

AlphaFold

Q00547

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,103 (GRCm39)	L229P	probably damaging	Het
Adamts20	C	T	15: 94,171,136 (GRCm39)	W1862*	probably null	Het
Adgrg6	A	G	10: 14,315,502 (GRCm39)	S601P	probably benign	Het
Bpifb3	T	C	2: 153,761,568 (GRCm39)	Y6H	unknown	Het
Calr3	A	G	8: 73,197,449 (GRCm39)	F27L	probably damaging	Het
Ckap2l	T	C	2: 129,127,437 (GRCm39)	Q247R	probably benign	Het
Cldn20	T	C	17: 3,583,409 (GRCm39)	I194T	probably benign	Het
Col22a1	G	A	15: 71,840,952 (GRCm39)	P468S	possibly damaging	Het
Cyp2c54	T	A	19: 40,058,672 (GRCm39)	E253D	probably benign	Het
Efemp1	A	T	11: 28,876,259 (GRCm39)	T475S	probably benign	Het
Fam98b	A	G	2: 117,089,719 (GRCm39)	S79G	probably benign	Het
Galnt14	C	A	17: 73,829,649 (GRCm39)	D299Y	probably damaging	Het
Hecw2	T	C	1: 53,965,416 (GRCm39)	E470G	possibly damaging	Het
Il17rd	T	A	14: 26,821,963 (GRCm39)	I419K	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Nlrp4f	A	G	13: 65,342,410 (GRCm39)	F412L	probably damaging	Het
Or5p4	C	A	7: 107,680,925 (GRCm39)	T308K	probably benign	Het
Sel1l3	A	G	5: 53,279,199 (GRCm39)	Y955H	probably damaging	Het
Slc4a10	A	G	2: 62,127,304 (GRCm39)	I916V	probably damaging	Het
Smg9	A	G	7: 24,121,730 (GRCm39)	H497R	probably damaging	Het
Tpp2	T	C	1: 44,012,671 (GRCm39)	I635T	probably benign	Het
Usp34	T	C	11: 23,438,686 (GRCm39)	V3416A	probably benign	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
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
R8829: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

Posted On

2016-08-02