Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Hepacam'

654050

Institutional Source

Beutler Lab

Gene Symbol

Hepacam

Ensembl Gene

ENSMUSG00000046240

Gene Name

hepatocyte cell adhesion molecule

Synonyms

Glialcam, 2900042E01Rik

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

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

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37278652-37297868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37296006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 386 (S386P)

Ref Sequence

ENSEMBL: ENSMUSP00000054105 (fasta)

Gene Model

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

AlphaFold

Q640R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000051839
AA Change: S386P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: S386P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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
Abhd2	T	C	7: 78,998,178 (GRCm39)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,266,449 (GRCm39)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm39)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,007,526 (GRCm39)	L156H	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C8b	T	C	4: 104,644,040 (GRCm39)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,551,956 (GRCm39)	G508S	probably damaging	Het
Clca3a1	T	C	3: 144,710,822 (GRCm39)	T794A	probably benign	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cyp2j12	C	T	4: 95,987,899 (GRCm39)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 77,888,602 (GRCm39)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,723,398 (GRCm39)	Q201*	probably null	Het
Fetub	T	C	16: 22,752,985 (GRCm39)	S146P	possibly damaging	Het
Gak	T	G	5: 108,757,272 (GRCm39)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,695,694 (GRCm39)		probably benign	Het
Ginm1	C	T	10: 7,646,130 (GRCm39)	C290Y	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,493,019 (GRCm39)	S220A	unknown	Het
Hydin	A	G	8: 111,189,367 (GRCm39)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 77,017,874 (GRCm39)	A18V	probably damaging	Het
Ift140	T	A	17: 25,313,651 (GRCm39)	C1361S	probably damaging	Het
Il16	T	C	7: 83,301,351 (GRCm39)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,326,277 (GRCm39)	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,903,602 (GRCm39)	V316I	probably benign	Het
Marchf6	A	G	15: 31,482,695 (GRCm39)	I501T	possibly damaging	Het
Msl2	T	A	9: 100,978,167 (GRCm39)	S180R	probably benign	Het
Muc16	C	T	9: 18,569,220 (GRCm39)	V1100I	unknown	Het
Nbas	T	C	12: 13,616,251 (GRCm39)	V2263A	possibly damaging	Het
Or6b2	C	T	1: 92,408,187 (GRCm39)	S52N	probably benign	Het
Or7g33	C	T	9: 19,448,833 (GRCm39)	R131H	probably benign	Het
Pdilt	T	G	7: 119,114,109 (GRCm39)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,328,375 (GRCm39)	T640A	probably damaging	Het
Pole2	G	C	12: 69,250,961 (GRCm39)	Y467*	probably null	Het
Pxdn	C	T	12: 30,052,043 (GRCm39)	T740M	probably damaging	Het
Rabac1	T	C	7: 24,671,672 (GRCm39)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,001,773 (GRCm39)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,104,279 (GRCm39)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,867,936 (GRCm39)	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,231,963 (GRCm39)	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,930,135 (GRCm39)	T35M	probably benign	Het
Speer4b	C	T	5: 27,703,818 (GRCm39)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,006,651 (GRCm39)	T843A	probably damaging	Het
Tecta	T	A	9: 42,243,856 (GRCm39)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,929,448 (GRCm39)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,610,427 (GRCm39)	Y1167*	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,830,800 (GRCm39)	T19A	probably damaging	Het
Vpreb1b	G	A	16: 17,798,753 (GRCm39)	G80S	probably damaging	Het
Wdfy4	A	G	14: 32,798,332 (GRCm39)	C2025R		Het
Zyg11a	T	A	4: 108,075,103 (GRCm39)	H6L	probably 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
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
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'- GAGCCAGATGAAAACCCTGC -3'
(R):5'- AGGCCACGATCTCCTTTCAC -3'

Sequencing Primer
(F):5'- AGATGAAAACCCTGCTACAGAG -3'
(R):5'- CAGAGGCATCAGGACTTCTCAG -3'

Posted On

2020-10-20