Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Hivep2'

685037

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13966075-14151374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14132413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1585 (R1585L)

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

probably benign
Transcript: ENSMUST00000015645
AA Change: R1585L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: R1585L

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

probably benign
Transcript: ENSMUST00000187083
AA Change: R1585L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: R1585L

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: ENSMUST00000191138
AA Change: R1585L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: R1585L

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: 99.7%
20x: 99.2%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,576,227	C410Y	probably benign	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,714,959	T363I	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr522	T	C	7: 140,162,285	I222V	probably damaging	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pde6a	T	A	18: 61,285,989	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly 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
R7427:Hivep2	UTSW	10	14133741	missense	possibly damaging	0.94
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
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'- ACAGGGAGATTCTTCCAGGGTC -3'
(R):5'- GCACCATGAAGCATAAACGG -3'

Sequencing Primer
(F):5'- AGATTCTTCCAGGGTCCAGGG -3'
(R):5'- TGGCCTGTTGCACAAAACTG -3'

Posted On

2021-10-11