Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Hivep2'

576187

Institutional Source

Beutler Lab

Gene Symbol

Hivep2

Ensembl Gene

ENSMUSG00000015501

Gene Name

human immunodeficiency virus type I enhancer binding protein 2

Synonyms

Shn-2, MIBP1, Schnurri-2, Gm20114

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13966075-14151374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14133741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1714 (M1714T)

Ref Sequence

ENSEMBL: ENSMUSP00000015645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015645] [ENSMUST00000186989] [ENSMUST00000187083] [ENSMUST00000191138]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015645
AA Change: M1714T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: M1714T

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186989

SMART Domains

Protein: ENSMUSP00000140180
Gene: ENSMUSG00000015501

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	7.9e-6	SMART
ZnF_C2H2	217	239	3.1e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187083
AA Change: M1714T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: M1714T

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191138
AA Change: M1714T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: M1714T

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	C	T	2: 23,256,994	R337C	probably benign	Het
Adck5	T	A	15: 76,594,385	C318S	possibly damaging	Het
Aspm	T	A	1: 139,457,616	C333S	probably benign	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Ctgf	T	G	10: 24,597,499	M312R	probably damaging	Het
Cxcl16	A	G	11: 70,458,804	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Dnah9	T	C	11: 65,955,219	T2998A	probably benign	Het
Focad	T	C	4: 88,368,751	S1254P	unknown	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Gm6614	T	G	6: 142,003,508		probably null	Het
Gpr158	A	C	2: 21,827,318	L1076F	probably benign	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,349,542	T150K	probably benign	Het
Il6st	A	G	13: 112,488,560	I237V	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Kit	G	A	5: 75,645,847	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,967	N190I	probably damaging	Het
Lad1	C	T	1: 135,825,838	T41I	probably damaging	Het
Lrrc7	G	T	3: 158,198,141	T294K	probably benign	Het
Megf8	C	T	7: 25,338,371	R771C	probably benign	Het
Micu3	A	C	8: 40,378,914	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,474,213	N291D	unknown	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454	D79E	probably benign	Het
Myzap	T	C	9: 71,505,183	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,371,435	D907G	probably benign	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr105-ps	T	C	17: 37,383,299	V244A	probably damaging	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr332	A	G	11: 58,489,780	I325T	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Omd	A	T	13: 49,592,269	E385V	possibly damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,137,424	D20G	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995	N226K	probably damaging	Het
Ppp1r10	T	A	17: 35,930,133	H642Q	possibly damaging	Het
Prom2	A	G	2: 127,539,811	L195P	probably damaging	Het
Psg23	C	T	7: 18,611,983		probably null	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Rhot2	A	T	17: 25,841,609	V233E	probably damaging	Het
Ripply2	T	C	9: 87,019,756	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,298,898	I427F	probably damaging	Het
Sned1	G	A	1: 93,289,358	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Srd5a3	A	G	5: 76,154,643	H285R	probably benign	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Syne1	T	C	10: 5,273,718	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,038,308	T27A	probably benign	Het
Tmem150b	A	T	7: 4,716,210	V237E	probably benign	Het
Trpv6	C	T	6: 41,625,153	M407I	probably benign	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Uroc1	A	T	6: 90,346,362	D354V	possibly damaging	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	probably damaging	Het

Other mutations in Hivep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Hivep2	APN	10	14142244	missense	probably damaging	1.00
IGL00963:Hivep2	APN	10	14129347	missense	probably damaging	1.00
IGL01066:Hivep2	APN	10	14149024	missense	possibly damaging	0.92
IGL01395:Hivep2	APN	10	14132800	critical splice donor site	probably null
IGL01474:Hivep2	APN	10	14143662	missense	probably damaging	1.00
IGL01481:Hivep2	APN	10	14149237	missense	probably benign
IGL01597:Hivep2	APN	10	14149374	nonsense	probably null
IGL01719:Hivep2	APN	10	14130523	missense	probably damaging	1.00
IGL01952:Hivep2	APN	10	14142331	missense	possibly damaging	0.54
IGL02170:Hivep2	APN	10	14127804	missense	possibly damaging	0.46
IGL02315:Hivep2	APN	10	14131239	missense	probably benign	0.01
IGL02517:Hivep2	APN	10	14131182	missense	probably benign	0.01
IGL02535:Hivep2	APN	10	14139497	missense	probably damaging	1.00
IGL02539:Hivep2	APN	10	14131878	missense	probably damaging	0.97
IGL02637:Hivep2	APN	10	14130708	missense	possibly damaging	0.89
IGL02715:Hivep2	APN	10	14131387	missense	probably benign	0.03
IGL02948:Hivep2	APN	10	14129013	missense	probably benign	0.44
IGL03113:Hivep2	APN	10	14130651	missense	probably damaging	1.00
IGL03161:Hivep2	APN	10	14143356	missense	probably damaging	1.00
IGL03173:Hivep2	APN	10	14127982	missense	possibly damaging	0.75
IGL03310:Hivep2	APN	10	14143667	missense	probably damaging	1.00
BB010:Hivep2	UTSW	10	14127837	missense	probably damaging	1.00
BB020:Hivep2	UTSW	10	14127837	missense	probably damaging	1.00
R0005:Hivep2	UTSW	10	14128749	missense	probably damaging	0.99
R0053:Hivep2	UTSW	10	14132121	missense	probably damaging	1.00
R0053:Hivep2	UTSW	10	14132121	missense	probably damaging	1.00
R0136:Hivep2	UTSW	10	14131878	missense	probably benign	0.04
R0143:Hivep2	UTSW	10	14129355	missense	probably damaging	1.00
R0172:Hivep2	UTSW	10	14139474	missense	probably damaging	1.00
R0226:Hivep2	UTSW	10	14129712	missense	probably benign	0.26
R0348:Hivep2	UTSW	10	14129958	missense	possibly damaging	0.76
R0352:Hivep2	UTSW	10	14143295	missense	possibly damaging	0.74
R0657:Hivep2	UTSW	10	14131878	missense	probably benign	0.04
R1710:Hivep2	UTSW	10	14129505	nonsense	probably null
R1959:Hivep2	UTSW	10	14132709	missense	probably benign	0.02
R2017:Hivep2	UTSW	10	14130757	missense	probably damaging	0.96
R2085:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2085:Hivep2	UTSW	10	14139529	nonsense	probably null
R2163:Hivep2	UTSW	10	14128226	nonsense	probably null
R2206:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2207:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2228:Hivep2	UTSW	10	14128363	missense	probably damaging	1.00
R2241:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2242:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2243:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2246:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2247:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2273:Hivep2	UTSW	10	14132443	missense	probably benign	0.02
R2357:Hivep2	UTSW	10	14143299	missense	probably benign	0.01
R2517:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2519:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2858:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2859:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2916:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R2921:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3051:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3177:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3277:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3620:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3621:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3701:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3802:Hivep2	UTSW	10	14148961	missense	possibly damaging	0.94
R3810:Hivep2	UTSW	10	14130357	missense	probably benign
R3811:Hivep2	UTSW	10	14130357	missense	probably benign
R3817:Hivep2	UTSW	10	14143941	missense	possibly damaging	0.46
R3818:Hivep2	UTSW	10	14143941	missense	possibly damaging	0.46
R3819:Hivep2	UTSW	10	14143941	missense	possibly damaging	0.46
R3836:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3837:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3838:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3839:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3897:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3900:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3932:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3954:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R3957:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4001:Hivep2	UTSW	10	14127732	missense	probably damaging	1.00
R4134:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4180:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4248:Hivep2	UTSW	10	14131555	missense	probably damaging	1.00
R4416:Hivep2	UTSW	10	14129170	missense	probably benign
R4436:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4437:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4474:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4475:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4476:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4636:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4637:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4791:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4792:Hivep2	UTSW	10	14128969	missense	probably benign	0.16
R4825:Hivep2	UTSW	10	14131319	missense	possibly damaging	0.81
R4955:Hivep2	UTSW	10	14130958	missense	probably benign	0.44
R5094:Hivep2	UTSW	10	14132149	missense	probably benign
R5129:Hivep2	UTSW	10	14130864	missense	probably damaging	1.00
R5163:Hivep2	UTSW	10	14139425	missense	probably damaging	1.00
R5255:Hivep2	UTSW	10	14131267	splice site	probably null
R5330:Hivep2	UTSW	10	14131420	missense	probably damaging	1.00
R5341:Hivep2	UTSW	10	14132592	missense	possibly damaging	0.94
R5453:Hivep2	UTSW	10	14128228	missense	possibly damaging	0.78
R5513:Hivep2	UTSW	10	14132673	nonsense	probably null
R5535:Hivep2	UTSW	10	14131022	missense	probably benign	0.00
R5613:Hivep2	UTSW	10	14139495	missense	probably damaging	1.00
R5804:Hivep2	UTSW	10	14133775	missense	probably benign	0.01
R6074:Hivep2	UTSW	10	14131741	missense	probably benign	0.18
R6163:Hivep2	UTSW	10	14129992	missense	probably damaging	0.98
R6250:Hivep2	UTSW	10	14131759	missense	probably benign	0.01
R6696:Hivep2	UTSW	10	14133759	missense	probably benign	0.06
R6754:Hivep2	UTSW	10	14129638	missense	probably benign	0.06
R6756:Hivep2	UTSW	10	14132559	missense	probably damaging	1.00
R6799:Hivep2	UTSW	10	14129013	missense	probably benign	0.28
R6862:Hivep2	UTSW	10	14130583	missense	probably damaging	1.00
R6932:Hivep2	UTSW	10	14128501	missense	probably damaging	1.00
R6943:Hivep2	UTSW	10	14128314	missense	probably damaging	1.00
R7027:Hivep2	UTSW	10	14149577	missense	probably damaging	0.99
R7027:Hivep2	UTSW	10	14149578	missense	probably damaging	1.00
R7198:Hivep2	UTSW	10	14129966	missense	probably benign
R7248:Hivep2	UTSW	10	14131165	missense	possibly damaging	0.86
R7256:Hivep2	UTSW	10	14129101	missense	probably benign	0.29
R7426:Hivep2	UTSW	10	14131317	missense	possibly damaging	0.93
R7638:Hivep2	UTSW	10	14143851	missense	possibly damaging	0.81
R7731:Hivep2	UTSW	10	14149714	missense	probably benign
R7740:Hivep2	UTSW	10	14127670	missense	probably damaging	1.00
R7797:Hivep2	UTSW	10	14130103	missense	probably benign
R7933:Hivep2	UTSW	10	14127837	missense	probably damaging	1.00
R8329:Hivep2	UTSW	10	14128267	missense	probably damaging	1.00
R8399:Hivep2	UTSW	10	14132434	missense	possibly damaging	0.63
R8767:Hivep2	UTSW	10	14129248	missense	probably damaging	1.00
R8802:Hivep2	UTSW	10	14139422	missense	probably damaging	1.00
R9002:Hivep2	UTSW	10	14132413	missense	probably benign	0.02
R9088:Hivep2	UTSW	10	14131251	missense	probably damaging	1.00
R9137:Hivep2	UTSW	10	14128968	missense	probably benign
R9198:Hivep2	UTSW	10	14129877	missense	probably benign	0.06
R9338:Hivep2	UTSW	10	14128949	nonsense	probably null
R9408:Hivep2	UTSW	10	14131761	missense	probably damaging	1.00
R9514:Hivep2	UTSW	10	14129779	missense	probably benign	0.34
R9516:Hivep2	UTSW	10	14129779	missense	probably benign	0.34
R9591:Hivep2	UTSW	10	14143896	missense	probably damaging	0.96
R9623:Hivep2	UTSW	10	14130802	missense	probably damaging	1.00
R9710:Hivep2	UTSW	10	14139459	missense	probably damaging	1.00
R9738:Hivep2	UTSW	10	14143839	missense	probably damaging	1.00
R9781:Hivep2	UTSW	10	14130084	missense	probably benign
Z1177:Hivep2	UTSW	10	14131786	missense	probably damaging	1.00
Z1177:Hivep2	UTSW	10	14143307	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGTGGCTGTGCACCTAAAC -3'
(R):5'- CAACTGAACATTTTACATCTGGGC -3'

Sequencing Primer
(F):5'- GCTGTGCACCTAAACATTGAAGTG -3'
(R):5'- CTGAACATTTTACATCTGGGCTTATG -3'

Posted On

2019-10-07