Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Hivep2'

277000

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

040779-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R3838 (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

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]

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: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	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
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
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'- TGACTCTCACACGGTGAAACAG -3'
(R):5'- CAACATGTTGATTTGACCGGG -3'

Sequencing Primer
(F):5'- AAACTTGCGCTGAGACTGTC -3'
(R):5'- ATTTGACCGGGGTCCATTTC -3'

Posted On

2015-04-06