Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Hepacam'

575609

Institutional Source

Beutler Lab

Gene Symbol

Hepacam

Ensembl Gene

ENSMUSG00000046240

Gene Name

hepatocyte cell adhesion molecule

Synonyms

Glialcam, 2900042E01Rik

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

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

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37278652-37297868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37292005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 111 (D111G)

Ref Sequence

ENSEMBL: ENSMUSP00000054105 (fasta)

Gene Model

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

AlphaFold

Q640R3

Predicted Effect

probably benign
Transcript: ENSMUST00000051839
AA Change: D111G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: D111G

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

unknown
Transcript: ENSMUST00000215951
AA Change: T30A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,141,303 (GRCm39)	V6A	probably benign	Het
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lrrc37	A	T	11: 103,504,451 (GRCm39)	S2506T	probably benign	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Or8b44	G	T	9: 38,410,359 (GRCm39)	L131F	probably benign	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,507 (GRCm39)	F121L	probably null	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 122,378,530 (GRCm39)		probably benign	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	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
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
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'- TTTCCGTGCAGTACAGTAGCAC -3'
(R):5'- TGGGCCTCTATCCATGTTAGC -3'

Sequencing Primer
(F):5'- TGCAGTACAGTAGCACCAGCAG -3'
(R):5'- ATGTTAGCTGTGCCTAGGTACCAC -3'

Posted On

2019-10-07