Mutagenetix > Incidental Mutation

Incidental Mutation 'R5796:Hepacam2'

447222

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

043387-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R5796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3457202-3498319 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 3466200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q4VAH7

Predicted Effect

probably null
Transcript: ENSMUST00000049985

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156

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

probably null
Transcript: ENSMUST00000184466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201276

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

93% (51/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,215,077 (GRCm39)	T9A	possibly damaging	Het
Abcd3	G	A	3: 121,578,147 (GRCm39)	R160W	probably damaging	Het
Ap3d1	G	T	10: 80,549,871 (GRCm39)	T758K	possibly damaging	Het
Ate1	T	C	7: 130,068,998 (GRCm39)	Y423C	probably damaging	Het
Bsn	C	T	9: 108,003,223 (GRCm39)	G394D	probably damaging	Het
Cacna1d	T	C	14: 29,788,073 (GRCm39)	D1599G	probably damaging	Het
Cd33	A	G	7: 43,182,480 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,064,101 (GRCm39)	T81A	probably null	Het
Col12a1	T	C	9: 79,611,111 (GRCm39)	N154D	possibly damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,716,517 (GRCm39)	Y40N	probably damaging	Het
Cyfip2	T	C	11: 46,089,823 (GRCm39)	N1197D	probably benign	Het
Dclre1b	G	A	3: 103,714,773 (GRCm39)	Q77*	probably null	Het
Dsc3	T	A	18: 20,104,558 (GRCm39)	M590L	probably benign	Het
Efcab14	A	T	4: 115,603,780 (GRCm39)	I153F	probably damaging	Het
Fbxo42	T	C	4: 140,927,100 (GRCm39)	V460A	probably benign	Het
Fgl1	T	G	8: 41,652,796 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,272,782 (GRCm39)	S1697P	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm15056	C	A	8: 21,391,998 (GRCm39)		probably benign	Het
Gm17409	T	A	2: 58,361,034 (GRCm39)		probably benign	Het
Gm20730	A	G	6: 43,058,464 (GRCm39)	L116P	probably damaging	Het
Grb2	T	G	11: 115,536,698 (GRCm39)	H184P	probably benign	Het
Hsd3b9	A	T	3: 98,354,168 (GRCm39)	D110E	probably benign	Het
Igkv4-55	T	A	6: 69,584,432 (GRCm39)	K60M	possibly damaging	Het
Itfg1	T	A	8: 86,445,522 (GRCm39)	H603L	probably damaging	Het
Katna1	C	A	10: 7,636,575 (GRCm39)	D366E	probably damaging	Het
Klk1b26	A	G	7: 43,665,752 (GRCm39)	Y188C	probably damaging	Het
Ldhd	T	C	8: 112,353,722 (GRCm39)	T464A	probably benign	Het
Muc5b	T	C	7: 141,411,133 (GRCm39)	S1360P	unknown	Het
Nckipsd	T	G	9: 108,688,813 (GRCm39)	V116G	probably benign	Het
Nhsl1	C	T	10: 18,399,998 (GRCm39)	S374L	probably benign	Het
Oxt	G	A	2: 130,418,533 (GRCm39)	G48D	probably damaging	Het
Pramel21	A	G	4: 143,341,778 (GRCm39)	N69S	probably benign	Het
Ptprk	C	T	10: 28,259,571 (GRCm39)	T337I	probably damaging	Het
Rad54b	A	T	4: 11,615,446 (GRCm39)	D818V	probably benign	Het
Rbpjl	T	C	2: 164,252,168 (GRCm39)		probably benign	Het
Recql5	T	A	11: 115,818,691 (GRCm39)		probably benign	Het
Robo4	A	T	9: 37,322,970 (GRCm39)	D830V	probably benign	Het
Rps6kb1	C	T	11: 86,402,677 (GRCm39)	G339S	probably benign	Het
Rtel1	G	A	2: 180,982,299 (GRCm39)	E350K	probably benign	Het
Rtn3	A	G	19: 7,434,832 (GRCm39)	S368P	possibly damaging	Het
Smad5	A	G	13: 56,871,645 (GRCm39)	H80R	probably damaging	Het
Sppl2c	T	A	11: 104,078,619 (GRCm39)	M473K	probably benign	Het
Tbrg1	A	G	9: 37,563,871 (GRCm39)		probably benign	Het
Tcf7	A	G	11: 52,152,354 (GRCm39)	I65T	probably benign	Het
Tgm2	T	C	2: 157,960,824 (GRCm39)	D618G	probably benign	Het
Tuba3b	C	T	6: 145,565,408 (GRCm39)	T292I	probably damaging	Het
Vmn1r63	G	A	7: 5,806,140 (GRCm39)	S164L	probably benign	Het
Zfp382	A	G	7: 29,832,774 (GRCm39)	K142E	probably damaging	Het
Zmym3	G	A	X: 100,459,406 (GRCm39)	P308L	probably benign	Het

Other mutations in Hepacam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Hepacam2	APN	6	3,487,117 (GRCm39)	missense	probably benign	0.07
IGL01945:Hepacam2	APN	6	3,487,117 (GRCm39)	missense	probably benign	0.07
IGL02254:Hepacam2	APN	6	3,483,421 (GRCm39)	missense	probably benign	0.06
IGL02445:Hepacam2	APN	6	3,483,481 (GRCm39)	missense	probably damaging	1.00
IGL02546:Hepacam2	APN	6	3,483,568 (GRCm39)	missense	possibly damaging	0.93
IGL02620:Hepacam2	APN	6	3,487,280 (GRCm39)	splice site	probably benign
IGL02697:Hepacam2	APN	6	3,476,036 (GRCm39)	missense	possibly damaging	0.79
R0089:Hepacam2	UTSW	6	3,487,094 (GRCm39)	missense	probably damaging	0.96
R0208:Hepacam2	UTSW	6	3,467,505 (GRCm39)	splice site	probably benign
R0230:Hepacam2	UTSW	6	3,463,336 (GRCm39)	missense	probably benign	0.01
R0299:Hepacam2	UTSW	6	3,476,121 (GRCm39)	missense	probably damaging	1.00
R0499:Hepacam2	UTSW	6	3,476,121 (GRCm39)	missense	probably damaging	1.00
R0608:Hepacam2	UTSW	6	3,483,479 (GRCm39)	missense	possibly damaging	0.93
R1350:Hepacam2	UTSW	6	3,467,530 (GRCm39)	nonsense	probably null
R1663:Hepacam2	UTSW	6	3,483,439 (GRCm39)	missense	possibly damaging	0.76
R1749:Hepacam2	UTSW	6	3,483,379 (GRCm39)	missense	probably damaging	1.00
R1997:Hepacam2	UTSW	6	3,487,241 (GRCm39)	missense	probably damaging	1.00
R2146:Hepacam2	UTSW	6	3,463,378 (GRCm39)	splice site	probably benign
R3911:Hepacam2	UTSW	6	3,494,477 (GRCm39)	start codon destroyed	probably null	0.98
R4281:Hepacam2	UTSW	6	3,475,938 (GRCm39)	missense	probably damaging	0.98
R4290:Hepacam2	UTSW	6	3,487,237 (GRCm39)	missense	probably benign	0.01
R4371:Hepacam2	UTSW	6	3,486,988 (GRCm39)	missense	probably damaging	1.00
R4794:Hepacam2	UTSW	6	3,475,933 (GRCm39)	missense	probably damaging	0.96
R4890:Hepacam2	UTSW	6	3,487,231 (GRCm39)	missense	probably damaging	0.96
R5330:Hepacam2	UTSW	6	3,483,377 (GRCm39)	missense	probably benign	0.00
R5331:Hepacam2	UTSW	6	3,483,377 (GRCm39)	missense	probably benign	0.00
R5677:Hepacam2	UTSW	6	3,466,142 (GRCm39)	missense	probably damaging	1.00
R5844:Hepacam2	UTSW	6	3,476,073 (GRCm39)	missense	probably damaging	0.99
R5979:Hepacam2	UTSW	6	3,476,149 (GRCm39)	missense	probably damaging	1.00
R6017:Hepacam2	UTSW	6	3,483,332 (GRCm39)	missense	probably damaging	1.00
R7460:Hepacam2	UTSW	6	3,487,199 (GRCm39)	missense	probably benign	0.20
R8458:Hepacam2	UTSW	6	3,483,358 (GRCm39)	missense	probably damaging	1.00
R8928:Hepacam2	UTSW	6	3,467,623 (GRCm39)	critical splice donor site	probably null
R9525:Hepacam2	UTSW	6	3,476,046 (GRCm39)	missense	probably benign	0.33
R9762:Hepacam2	UTSW	6	3,486,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Hepacam2	UTSW	6	3,483,352 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ATGCCTTAGCTCCACAAATCTC -3'
(R):5'- TGCCTATAATGACCATACAGGAC -3'

Sequencing Primer
(F):5'- TCCCGTGAATCAACACTGTGG -3'
(R):5'- CTAGGATCTATGAAAGGGTCTCATGC -3'

Posted On

2016-12-15