Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Hivep2'

475856

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: 0.944) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13966075-14151374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14128969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 437 (T437K)

Ref Sequence

ENSEMBL: ENSMUSP00000140150 (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: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: T437K

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: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: T437K

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: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: T437K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	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
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
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

Posted On

2017-05-11