Mutagenetix > Incidental Mutation

Incidental Mutation 'R3911:Hepacam2'

309381

Institutional Source

Beutler Lab

Gene Symbol

Hepacam2

Ensembl Gene

ENSMUSG00000044156

Gene Name

HEPACAM family member 2

Synonyms

MMRRC Submission

040909-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R3911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3457202-3498319 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 3494477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000058882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000049985] [ENSMUST00000164052] [ENSMUST00000170873] [ENSMUST00000200854]

AlphaFold

Q4VAH7

Predicted Effect

probably benign
Transcript: ENSMUST00000001412

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	2.5e-112	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	957	2.2e-98	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000049985
AA Change: M1T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: M1T

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 benign
Transcript: ENSMUST00000164052

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.2e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	929	1.1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170873

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.3e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	933	2.6e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184780

Predicted Effect

probably benign
Transcript: ENSMUST00000200854

SMART Domains

Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156

Domain	Start	End	E-Value	Type
IG_like	2	66	2.88e1	SMART
IGc2	89	151	6.21e-9	SMART

Meta Mutation Damage Score

0.9629

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (71/71)

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
Abcb9	T	A	5: 124,227,909 (GRCm39)	I111F	probably benign	Het
Abcc12	A	C	8: 87,255,048 (GRCm39)		probably benign	Het
Adgre1	G	T	17: 57,754,860 (GRCm39)	V653L	probably damaging	Het
Aebp2	T	A	6: 140,593,707 (GRCm39)	D230E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Casp8	A	T	1: 58,872,864 (GRCm39)	S267C	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cd2ap	T	A	17: 43,126,980 (GRCm39)		probably null	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,728,897 (GRCm39)	E1155D	probably damaging	Het
Cnnm2	A	G	19: 46,866,375 (GRCm39)	E841G	probably damaging	Het
Cntrl	G	A	2: 35,010,061 (GRCm39)	R245H	probably damaging	Het
Cyp2b23	A	T	7: 26,380,842 (GRCm39)	S128T	probably benign	Het
Dhrs11	A	T	11: 84,712,579 (GRCm39)	I196N	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Edc3	A	T	9: 57,655,686 (GRCm39)	I479F	possibly damaging	Het
Emg1	T	A	6: 124,682,009 (GRCm39)	M172L	probably benign	Het
Epha7	G	A	4: 28,938,680 (GRCm39)	V512I	probably benign	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Fasl	C	A	1: 161,615,760 (GRCm39)	C32F	probably benign	Het
Flg	A	T	3: 93,187,307 (GRCm39)	H253L	probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm17067	T	A	7: 42,360,104 (GRCm39)	I43L	possibly damaging	Het
Gpld1	A	G	13: 25,146,305 (GRCm39)	Y183C	probably damaging	Het
Gpr137c	C	A	14: 45,516,392 (GRCm39)	P327T	probably benign	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Itgb8	T	A	12: 119,131,740 (GRCm39)	E635V	possibly damaging	Het
Kat14	T	C	2: 144,245,982 (GRCm39)	V469A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	T	9: 110,265,151 (GRCm39)	L285Q	probably damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Krtap4-8	A	T	11: 99,670,863 (GRCm39)	C203S	unknown	Het
Lsp1	C	T	7: 142,040,098 (GRCm39)	S75F	probably damaging	Het
Map1b	A	G	13: 99,567,580 (GRCm39)	S1714P	unknown	Het
Mcm2	A	G	6: 88,865,234 (GRCm39)	I481T	probably damaging	Het
Mcpt9	T	C	14: 56,265,136 (GRCm39)	T122A	probably benign	Het
Megf10	A	T	18: 57,422,465 (GRCm39)	R947W	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or51ai2	A	T	7: 103,586,616 (GRCm39)	N10Y	possibly damaging	Het
Pank4	A	G	4: 155,054,058 (GRCm39)	Y79C	probably damaging	Het
Pds5b	T	A	5: 150,670,171 (GRCm39)	N386K	probably benign	Het
Pfkm	A	G	15: 98,022,928 (GRCm39)	M362V	probably benign	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Pou4f1	C	T	14: 104,703,611 (GRCm39)	A274T	unknown	Het
Proc	A	G	18: 32,256,758 (GRCm39)	L303P	probably damaging	Het
Ptk2b	C	T	14: 66,394,517 (GRCm39)	G821D	possibly damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Serpinb6c	T	C	13: 34,077,888 (GRCm39)	N161D	probably benign	Het
Sf3b1	G	A	1: 55,058,548 (GRCm39)	Q14*	probably null	Het
Sh3d19	G	A	3: 86,014,534 (GRCm39)	V442M	possibly damaging	Het
Slc30a8	A	G	15: 52,185,097 (GRCm39)	I140V	probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Strap	T	G	6: 137,712,380 (GRCm39)	C10G	probably damaging	Het
Tcf7	C	A	11: 52,173,793 (GRCm39)		probably benign	Het
Tmem114	A	T	16: 8,230,054 (GRCm39)	M116K	probably damaging	Het
Tmem63b	A	G	17: 45,988,884 (GRCm39)	S113P	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Tns2	T	C	15: 102,022,272 (GRCm39)		probably null	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ush2a	T	A	1: 188,132,151 (GRCm39)	V791D	probably benign	Het
Vmn2r99	T	C	17: 19,614,635 (GRCm39)	F785S	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Wdr35	A	T	12: 9,036,077 (GRCm39)	I283F	probably benign	Het
Wnt10b	G	T	15: 98,672,219 (GRCm39)	A166E	possibly damaging	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
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
R5796:Hepacam2	UTSW	6	3,466,200 (GRCm39)	splice site	probably null
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'- GCCCTAAGCAAATATTTACCTTATGCC -3'
(R):5'- TATTTGAAAGCCACAGCCCTG -3'

Sequencing Primer
(F):5'- TACCTAAAAGCCAGCTCG -3'
(R):5'- TCTCGCAGAACATATAACAGGTG -3'

Posted On

2015-04-17