Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Hepacam'

194126

Institutional Source

Beutler Lab

Gene Symbol

Hepacam

Ensembl Gene

ENSMUSG00000046240

Gene Name

hepatocyte cell adhesion molecule

Synonyms

Glialcam, 2900042E01Rik

MMRRC Submission

039780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37278652-37297868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37295189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 308 (N308I)

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: N308I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: N308I

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,152,338 (GRCm39)	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,548 (GRCm39)	M373I	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aire	T	C	10: 77,879,314 (GRCm39)	H15R	probably damaging	Het
Aldh3b2	T	C	19: 4,027,572 (GRCm39)	F38L	probably damaging	Het
Alk	A	C	17: 72,910,416 (GRCm39)	C97G	probably benign	Het
Ano8	T	C	8: 71,931,602 (GRCm39)		probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arsk	T	A	13: 76,210,529 (GRCm39)	H506L	probably benign	Het
Asgr2	G	T	11: 69,987,658 (GRCm39)	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,058,780 (GRCm39)	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,703,134 (GRCm39)	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,362,315 (GRCm39)	V424D	possibly damaging	Het
Capn3	T	C	2: 120,327,494 (GRCm39)	V574A	probably benign	Het
Capzb	C	A	4: 138,984,679 (GRCm39)	D67E	probably damaging	Het
Ccdc68	A	T	18: 70,089,062 (GRCm39)	T202S	probably benign	Het
Ccser2	T	C	14: 36,618,270 (GRCm39)	K123R	probably damaging	Het
Ccser2	T	A	14: 36,618,271 (GRCm39)	K123*	probably null	Het
Ces2h	T	C	8: 105,744,473 (GRCm39)	I316T	probably benign	Het
Chd3	T	G	11: 69,255,523 (GRCm39)	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,580,279 (GRCm39)	T1533A	probably benign	Het
Cr2	T	A	1: 194,838,213 (GRCm39)	K1084*	probably null	Het
Ddx28	A	G	8: 106,737,314 (GRCm39)	L248P	probably benign	Het
Depdc5	A	G	5: 33,075,286 (GRCm39)	E488G	probably benign	Het
Dld	T	C	12: 31,384,745 (GRCm39)	T305A	probably benign	Het
Dok5	T	A	2: 170,683,373 (GRCm39)	F211L	probably damaging	Het
Duox2	T	C	2: 122,117,532 (GRCm39)	D934G	probably benign	Het
Eif3a	G	A	19: 60,755,236 (GRCm39)	T982I	unknown	Het
Erbb2	G	T	11: 98,326,161 (GRCm39)	R979L	probably benign	Het
Espl1	G	T	15: 102,206,964 (GRCm39)	V143L	possibly damaging	Het
Fanci	T	C	7: 79,080,236 (GRCm39)	L598P	probably damaging	Het
Fat2	T	A	11: 55,147,473 (GRCm39)	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,903,550 (GRCm39)	K95*	probably null	Het
Gpr108	G	T	17: 57,543,217 (GRCm39)	T484K	probably damaging	Het
Hao1	T	A	2: 134,340,238 (GRCm39)	N351I	possibly damaging	Het
Herc2	T	C	7: 55,798,571 (GRCm39)		probably null	Het
Hltf	T	C	3: 20,130,685 (GRCm39)	I301T	probably benign	Het
Igsf10	A	T	3: 59,226,514 (GRCm39)	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,186,937 (GRCm39)	T585K	probably benign	Het
Iqgap3	A	G	3: 88,021,287 (GRCm39)	T448A	possibly damaging	Het
Kl	T	C	5: 150,904,450 (GRCm39)	S401P	possibly damaging	Het
Lama4	T	C	10: 38,941,615 (GRCm39)	V684A	probably benign	Het
Lgals8	A	T	13: 12,469,824 (GRCm39)	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,776,491 (GRCm39)	R134C	probably benign	Het
Lmcd1	T	C	6: 112,306,875 (GRCm39)	V349A	probably benign	Het
Lrp1b	T	A	2: 41,618,718 (GRCm39)	N119Y	possibly damaging	Het
Lrrc73	T	A	17: 46,566,621 (GRCm39)	I157N	probably damaging	Het
Map3k8	A	G	18: 4,334,766 (GRCm39)	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,282,400 (GRCm39)		probably null	Het
Naa12	T	C	18: 80,255,161 (GRCm39)	S152P	probably benign	Het
Ndrg1	A	G	15: 66,802,930 (GRCm39)	M140T	possibly damaging	Het
Or2n1e	T	A	17: 38,585,997 (GRCm39)	C112S	possibly damaging	Het
Or8b38	A	G	9: 37,972,796 (GRCm39)	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,812,951 (GRCm39)	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,913,826 (GRCm39)	S278R	probably benign	Het
Polr3d	A	T	14: 70,676,915 (GRCm39)	L393*	probably null	Het
Prmt6	T	C	3: 110,157,683 (GRCm39)	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sag	T	A	1: 87,759,662 (GRCm39)	I300N	probably damaging	Het
Sap25	T	A	5: 137,640,180 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,695 (GRCm39)	L177P	probably damaging	Het
Sh3pxd2b	A	T	11: 32,372,203 (GRCm39)	N457Y	possibly damaging	Het
Siae	T	A	9: 37,542,902 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,119,150 (GRCm39)	L375P	probably damaging	Het
Smg8	A	G	11: 86,976,594 (GRCm39)	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,870,695 (GRCm39)	Y241F	probably damaging	Het
Tm9sf3	T	G	19: 41,244,668 (GRCm39)	S70R	probably benign	Het
Tmem144	C	T	3: 79,732,594 (GRCm39)	S228N	probably damaging	Het
Tmem45a	C	A	16: 56,642,701 (GRCm39)	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,726,429 (GRCm39)	V133L	probably damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,613,241 (GRCm39)	F53S	probably damaging	Het
Vmn1r78	T	A	7: 11,887,250 (GRCm39)	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,527,035 (GRCm39)	D499V	probably benign	Het
Zpld2	C	G	4: 133,927,610 (GRCm39)	C381S	probably damaging	Het
Zpld2	T	A	4: 133,929,430 (GRCm39)	T292S	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
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
R5738:Hepacam	UTSW	9	37,294,721 (GRCm39)	missense	possibly damaging	0.83
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'- GCCCATCAGCATTCACATCAGAGAG -3'
(R):5'- TGTACGGTGACCGTCACTTGTATTG -3'

Sequencing Primer
(F):5'- gaccctcttggggtagaatg -3'
(R):5'- AGGTCTGCCACTCATTTGC -3'

Posted On

2014-05-23