Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Hivep2'

590080

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

045696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13966075-14151374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14143851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 2122 (M2122R)

Ref Sequence

ENSEMBL: ENSMUSP00000015645 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015645
AA Change: M2122R

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: M2122R

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: ENSMUST00000187083
AA Change: M2122R

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: M2122R

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: M2122R

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: M2122R

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

0.0708

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	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
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'- ATCACCTAGACGAGACCTGTC -3'
(R):5'- CATGTCACCAACACGATGTG -3'

Sequencing Primer
(F):5'- AGACCTGTCGCCGATGAG -3'
(R):5'- CGATGTGTGATAAAATGTCTCCCTGC -3'

Posted On

2019-10-24