Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Hepacam2'

368844

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3457096-3498298 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3475933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 331 (F331L)

Ref Sequence

ENSEMBL: ENSMUSP00000058882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049985] [ENSMUST00000201607]

AlphaFold

Q4VAH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000049985
AA Change: F331L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: F331L

Domain	Start	End	E-Value	Type
IG	39	142	7.77e-1	SMART
IGc2	165	227	6.21e-9	SMART
IG	256	334	1.87e0	SMART
transmembrane domain	351	373	N/A	INTRINSIC
low complexity region	420	437	N/A	INTRINSIC

Predicted Effect

not run
Transcript: ENSMUST00000184466
AA Change: F318L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201276

Predicted Effect

probably benign
Transcript: ENSMUST00000201607

SMART Domains

Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156

Domain	Start	End	E-Value	Type
IG_like	2	66	1.2e-1	SMART
IGc2	89	151	2.5e-11	SMART
Blast:IG	180	206	9e-11	BLAST

Meta Mutation Damage Score

0.2502

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Hepacam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Hepacam2	APN	6	3487117	missense	probably benign	0.07
IGL01945:Hepacam2	APN	6	3487117	missense	probably benign	0.07
IGL02254:Hepacam2	APN	6	3483421	missense	probably benign	0.06
IGL02445:Hepacam2	APN	6	3483481	missense	probably damaging	1.00
IGL02546:Hepacam2	APN	6	3483568	missense	possibly damaging	0.93
IGL02620:Hepacam2	APN	6	3487280	splice site	probably benign
IGL02697:Hepacam2	APN	6	3476036	missense	possibly damaging	0.79
R0089:Hepacam2	UTSW	6	3487094	missense	probably damaging	0.96
R0208:Hepacam2	UTSW	6	3467505	splice site	probably benign
R0230:Hepacam2	UTSW	6	3463336	missense	probably benign	0.01
R0299:Hepacam2	UTSW	6	3476121	missense	probably damaging	1.00
R0499:Hepacam2	UTSW	6	3476121	missense	probably damaging	1.00
R0608:Hepacam2	UTSW	6	3483479	missense	possibly damaging	0.93
R1350:Hepacam2	UTSW	6	3467530	nonsense	probably null
R1663:Hepacam2	UTSW	6	3483439	missense	possibly damaging	0.76
R1749:Hepacam2	UTSW	6	3483379	missense	probably damaging	1.00
R1997:Hepacam2	UTSW	6	3487241	missense	probably damaging	1.00
R2146:Hepacam2	UTSW	6	3463378	splice site	probably benign
R3911:Hepacam2	UTSW	6	3494477	start codon destroyed	probably null	0.98
R4281:Hepacam2	UTSW	6	3475938	missense	probably damaging	0.98
R4290:Hepacam2	UTSW	6	3487237	missense	probably benign	0.01
R4371:Hepacam2	UTSW	6	3486988	missense	probably damaging	1.00
R4890:Hepacam2	UTSW	6	3487231	missense	probably damaging	0.96
R5330:Hepacam2	UTSW	6	3483377	missense	probably benign	0.00
R5331:Hepacam2	UTSW	6	3483377	missense	probably benign	0.00
R5677:Hepacam2	UTSW	6	3466142	missense	probably damaging	1.00
R5796:Hepacam2	UTSW	6	3466200	splice site	probably null
R5844:Hepacam2	UTSW	6	3476073	missense	probably damaging	0.99
R5979:Hepacam2	UTSW	6	3476149	missense	probably damaging	1.00
R6017:Hepacam2	UTSW	6	3483332	missense	probably damaging	1.00
R7460:Hepacam2	UTSW	6	3487199	missense	probably benign	0.20
R8458:Hepacam2	UTSW	6	3483358	missense	probably damaging	1.00
R8928:Hepacam2	UTSW	6	3467623	critical splice donor site	probably null
Z1177:Hepacam2	UTSW	6	3483352	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGCTGGCATTTGAGTTTCTCC -3'
(R):5'- GAGAAGCTGTCCTCTTTGACTG -3'

Sequencing Primer
(F):5'- GAGTTTCTCCCCATTTTGTTTTGAG -3'
(R):5'- AGAAGCTGTCCTCTTTGACTGTTCAG -3'

Posted On

2016-02-04