Mutagenetix > Incidental Mutation

Incidental Mutation 'R5738:Hepacam'

444631

Institutional Source

Beutler Lab

Gene Symbol

Hepacam

Ensembl Gene

ENSMUSG00000046240

Gene Name

hepatocyte cell adhesion molecule

Synonyms

Glialcam, 2900042E01Rik

MMRRC Submission

043350-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37278652-37297868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37294721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 285 (D285G)

Ref Sequence

ENSEMBL: ENSMUSP00000054105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051839] [ENSMUST00000215951]

AlphaFold

Q640R3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051839
AA Change: D285G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: D285G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
IG	40	142	1e-3	SMART
IGc2	159	224	1.48e-6	SMART
transmembrane domain	241	263	N/A	INTRINSIC
low complexity region	264	274	N/A	INTRINSIC
low complexity region	337	356	N/A	INTRINSIC
low complexity region	358	372	N/A	INTRINSIC
low complexity region	379	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215951

Meta Mutation Damage Score

0.0785

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (52/53)

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 a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele display myelin vacuolization that progresses with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,571,917 (GRCm39)	D4826V	probably damaging	Het
Acoxl	G	A	2: 127,719,686 (GRCm39)	C149Y	probably benign	Het
Adamts3	G	T	5: 89,856,527 (GRCm39)	H349N	probably damaging	Het
Ap2b1	A	G	11: 83,227,256 (GRCm39)		probably null	Het
Ap3m2	T	C	8: 23,293,877 (GRCm39)	S58G	possibly damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Cacna1h	T	G	17: 25,606,023 (GRCm39)	D1092A	probably damaging	Het
Cbfb	A	C	8: 105,929,193 (GRCm39)	Q170P	probably damaging	Het
Ccdc73	A	C	2: 104,761,331 (GRCm39)	K110N	possibly damaging	Het
Cep350	C	A	1: 155,741,824 (GRCm39)	R2149L	probably damaging	Het
Cog2	A	G	8: 125,272,777 (GRCm39)	T525A	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fbxl5	A	G	5: 43,920,170 (GRCm39)	I251T	probably benign	Het
Fscn3	A	G	6: 28,430,030 (GRCm39)	K67E	possibly damaging	Het
Glmp	T	A	3: 88,233,445 (GRCm39)	N133K	probably benign	Het
Gpr179	T	C	11: 97,242,232 (GRCm39)	N204S	probably damaging	Het
Gtf2ird1	C	T	5: 134,412,672 (GRCm39)	R613Q	probably damaging	Het
Hipk4	G	A	7: 27,227,841 (GRCm39)	V196M	probably damaging	Het
Hlx	A	T	1: 184,463,754 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,936,254 (GRCm39)	D597E	probably benign	Het
Ighm	T	C	12: 113,385,115 (GRCm39)	T282A	unknown	Het
Igsf9b	T	C	9: 27,239,826 (GRCm39)	C624R	probably damaging	Het
Ksr2	T	C	5: 117,886,864 (GRCm39)	V800A	probably damaging	Het
Lyn	A	T	4: 3,782,987 (GRCm39)	I386F	probably damaging	Het
Melk	A	G	4: 44,310,333 (GRCm39)	D102G	probably damaging	Het
Mettl1	G	T	10: 126,877,863 (GRCm39)	E4*	probably null	Het
Mybl2	C	T	2: 162,910,203 (GRCm39)	Q210*	probably null	Het
Naga	C	T	15: 82,219,054 (GRCm39)	W231*	probably null	Het
Or2y3	T	C	17: 38,393,347 (GRCm39)	Y174C	probably damaging	Het
Or4k2	C	T	14: 50,424,105 (GRCm39)	V190I	probably benign	Het
Or7g16	T	C	9: 18,727,125 (GRCm39)	N155S	possibly damaging	Het
Otud4	T	C	8: 80,400,090 (GRCm39)	S935P	probably benign	Het
P2rx7	C	T	5: 122,790,852 (GRCm39)	T63I	probably damaging	Het
Pga5	A	T	19: 10,647,024 (GRCm39)	N260K	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,681,076 (GRCm39)	R184W	probably damaging	Het
Ppm1b	T	C	17: 85,301,374 (GRCm39)	F85L	probably benign	Het
Prtg	T	A	9: 72,819,288 (GRCm39)	F1094I	probably benign	Het
Ralgds	G	A	2: 28,432,538 (GRCm39)		probably benign	Het
Rgs17	A	C	10: 5,783,140 (GRCm39)	V149G	probably damaging	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Sav1	T	C	12: 70,022,817 (GRCm39)	E245G	possibly damaging	Het
Slc25a19	T	C	11: 115,515,060 (GRCm39)	I33V	probably benign	Het
Sptbn1	T	C	11: 30,095,941 (GRCm39)	I318V	probably damaging	Het
Tas2r136	A	G	6: 132,754,707 (GRCm39)	L140P	probably damaging	Het
Tbc1d9	A	G	8: 83,997,655 (GRCm39)	I1071V	probably benign	Het
Tecta	G	T	9: 42,284,474 (GRCm39)	N870K	possibly damaging	Het
Tmem230	G	A	2: 132,086,048 (GRCm39)	P38L	possibly damaging	Het
Trpa1	G	T	1: 14,946,174 (GRCm39)	H986N	probably damaging	Het
Wdr41	A	T	13: 95,114,996 (GRCm39)	I24L	possibly damaging	Het

Other mutations in Hepacam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Hepacam	APN	9	37,291,912 (GRCm39)	missense	probably damaging	1.00
R0924:Hepacam	UTSW	9	37,295,224 (GRCm39)	splice site	probably benign
R1659:Hepacam	UTSW	9	37,291,954 (GRCm39)	missense	probably benign	0.08
R1748:Hepacam	UTSW	9	37,295,189 (GRCm39)	missense	possibly damaging	0.90
R4932:Hepacam	UTSW	9	37,293,060 (GRCm39)	missense	probably damaging	1.00
R5587:Hepacam	UTSW	9	37,295,980 (GRCm39)	missense	probably damaging	0.99
R5809:Hepacam	UTSW	9	37,296,101 (GRCm39)	missense	possibly damaging	0.49
R6017:Hepacam	UTSW	9	37,292,056 (GRCm39)	missense	probably benign	0.00
R6825:Hepacam	UTSW	9	37,278,976 (GRCm39)	missense	possibly damaging	0.67
R7420:Hepacam	UTSW	9	37,292,005 (GRCm39)	missense	probably benign	0.00
R7825:Hepacam	UTSW	9	37,296,064 (GRCm39)	missense	probably benign	0.03
R8140:Hepacam	UTSW	9	37,295,167 (GRCm39)	missense	probably benign
R8437:Hepacam	UTSW	9	37,296,006 (GRCm39)	missense	probably damaging	1.00
R8513:Hepacam	UTSW	9	37,291,930 (GRCm39)	missense	probably benign	0.01
R8547:Hepacam	UTSW	9	37,279,049 (GRCm39)	missense	probably benign	0.12
R8746:Hepacam	UTSW	9	37,293,030 (GRCm39)	missense	probably damaging	1.00
R9169:Hepacam	UTSW	9	37,293,693 (GRCm39)	missense	probably damaging	1.00
R9196:Hepacam	UTSW	9	37,279,052 (GRCm39)	missense	probably benign	0.00
X0024:Hepacam	UTSW	9	37,292,896 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AGCTAGCTGGGTTACTGTGC -3'
(R):5'- TGGTCCACGGACAGATCTTC -3'

Sequencing Primer
(F):5'- TGCAAACGTAGATGTGCCTC -3'
(R):5'- CGGACAGATCTTCTACATCAGTGG -3'

Posted On

2016-11-21