Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Hivep3'

102100

Institutional Source

Beutler Lab

Gene Symbol

Hivep3

Ensembl Gene

ENSMUSG00000028634

Gene Name

human immunodeficiency virus type I enhancer binding protein 3

Synonyms

Krc, E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119590982-119992608 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 119671920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106307]

AlphaFold

A2A884

Predicted Effect

probably benign
Transcript: ENSMUST00000106307

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634

Domain	Start	End	E-Value	Type
ZnF_C2H2	185	207	1.67e-2	SMART
ZnF_C2H2	213	235	8.34e-3	SMART
low complexity region	257	285	N/A	INTRINSIC
low complexity region	292	323	N/A	INTRINSIC
low complexity region	425	438	N/A	INTRINSIC
low complexity region	513	527	N/A	INTRINSIC
low complexity region	589	612	N/A	INTRINSIC
low complexity region	622	633	N/A	INTRINSIC
ZnF_C2H2	636	656	2.06e1	SMART
low complexity region	736	749	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	844	865	N/A	INTRINSIC
low complexity region	878	894	N/A	INTRINSIC
low complexity region	896	931	N/A	INTRINSIC
low complexity region	1010	1020	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1110	1136	N/A	INTRINSIC
low complexity region	1143	1167	N/A	INTRINSIC
low complexity region	1170	1183	N/A	INTRINSIC
low complexity region	1259	1284	N/A	INTRINSIC
low complexity region	1376	1390	N/A	INTRINSIC
low complexity region	1529	1547	N/A	INTRINSIC
low complexity region	1673	1684	N/A	INTRINSIC
ZnF_C2H2	1720	1742	1.82e-3	SMART
ZnF_C2H2	1748	1772	1.69e-3	SMART
low complexity region	1778	1791	N/A	INTRINSIC
low complexity region	1814	1843	N/A	INTRINSIC
low complexity region	2203	2216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144907

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	probably damaging	Het

Other mutations in Hivep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Hivep3	APN	4	119,955,571 (GRCm39)	missense	probably damaging	1.00
IGL01017:Hivep3	APN	4	119,956,443 (GRCm39)	missense	probably damaging	0.98
IGL01837:Hivep3	APN	4	119,951,759 (GRCm39)	missense	possibly damaging	0.72
IGL01878:Hivep3	APN	4	119,952,424 (GRCm39)	missense	possibly damaging	0.84
IGL02134:Hivep3	APN	4	119,990,771 (GRCm39)	splice site	probably benign
IGL02183:Hivep3	APN	4	119,989,221 (GRCm39)	missense	probably benign	0.04
IGL02350:Hivep3	APN	4	119,980,222 (GRCm39)	missense	probably damaging	1.00
IGL02451:Hivep3	APN	4	119,991,162 (GRCm39)	missense	probably damaging	1.00
IGL02567:Hivep3	APN	4	119,991,153 (GRCm39)	missense	probably damaging	0.99
IGL02617:Hivep3	APN	4	119,952,641 (GRCm39)	missense	probably benign	0.04
IGL02725:Hivep3	APN	4	119,953,019 (GRCm39)	missense	possibly damaging	0.48
IGL02828:Hivep3	APN	4	119,954,929 (GRCm39)	nonsense	probably null
IGL02954:Hivep3	APN	4	119,990,838 (GRCm39)	missense	probably damaging	1.00
IGL02966:Hivep3	APN	4	119,989,383 (GRCm39)	missense	probably benign	0.04
Branchial	UTSW	4	119,953,772 (GRCm39)	missense	possibly damaging	0.92
Deceit	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
Mandible	UTSW	4	119,954,318 (GRCm39)	missense	probably damaging	0.99
Sclerotic	UTSW	4	119,952,296 (GRCm39)	missense	possibly damaging	0.82
Stealth	UTSW	4	119,980,073 (GRCm39)	nonsense	probably null
Yellowjacket	UTSW	4	119,989,554 (GRCm39)	missense	probably benign	0.01
PIT4260001:Hivep3	UTSW	4	119,956,379 (GRCm39)	missense	probably damaging	1.00
R0321:Hivep3	UTSW	4	119,952,788 (GRCm39)	missense	possibly damaging	0.84
R0336:Hivep3	UTSW	4	119,961,044 (GRCm39)	missense	probably damaging	1.00
R0558:Hivep3	UTSW	4	119,953,763 (GRCm39)	missense	probably damaging	0.98
R0562:Hivep3	UTSW	4	119,953,751 (GRCm39)	missense	probably benign	0.00
R0637:Hivep3	UTSW	4	119,989,738 (GRCm39)	nonsense	probably null
R0645:Hivep3	UTSW	4	119,954,531 (GRCm39)	missense	possibly damaging	0.95
R1254:Hivep3	UTSW	4	119,956,490 (GRCm39)	missense	probably damaging	1.00
R1428:Hivep3	UTSW	4	119,953,772 (GRCm39)	missense	possibly damaging	0.92
R1623:Hivep3	UTSW	4	119,952,901 (GRCm39)	missense	possibly damaging	0.84
R1739:Hivep3	UTSW	4	119,952,371 (GRCm39)	missense	probably benign	0.03
R1766:Hivep3	UTSW	4	119,953,868 (GRCm39)	missense	probably benign
R1769:Hivep3	UTSW	4	119,954,768 (GRCm39)	missense	possibly damaging	0.68
R1773:Hivep3	UTSW	4	119,956,034 (GRCm39)	missense	probably damaging	1.00
R1968:Hivep3	UTSW	4	119,953,435 (GRCm39)	missense	possibly damaging	0.83
R2220:Hivep3	UTSW	4	119,591,235 (GRCm39)	missense	possibly damaging	0.92
R2428:Hivep3	UTSW	4	119,955,705 (GRCm39)	nonsense	probably null
R3789:Hivep3	UTSW	4	119,955,613 (GRCm39)	missense	probably damaging	1.00
R3917:Hivep3	UTSW	4	119,956,624 (GRCm39)	missense	probably benign	0.27
R4366:Hivep3	UTSW	4	119,953,286 (GRCm39)	missense	possibly damaging	0.84
R4436:Hivep3	UTSW	4	119,953,120 (GRCm39)	missense	probably benign	0.11
R4504:Hivep3	UTSW	4	119,590,990 (GRCm39)	unclassified	probably benign
R4705:Hivep3	UTSW	4	119,729,247 (GRCm39)	intron	probably benign
R4713:Hivep3	UTSW	4	119,989,000 (GRCm39)	missense	probably damaging	1.00
R4756:Hivep3	UTSW	4	119,955,020 (GRCm39)	missense	probably damaging	0.98
R4887:Hivep3	UTSW	4	119,980,131 (GRCm39)	missense	probably damaging	1.00
R4888:Hivep3	UTSW	4	119,980,131 (GRCm39)	missense	probably damaging	1.00
R5008:Hivep3	UTSW	4	119,956,114 (GRCm39)	missense	probably benign	0.22
R5204:Hivep3	UTSW	4	119,961,053 (GRCm39)	critical splice donor site	probably null
R5594:Hivep3	UTSW	4	119,980,245 (GRCm39)	critical splice donor site	probably null
R5697:Hivep3	UTSW	4	119,954,152 (GRCm39)	missense	possibly damaging	0.68
R5715:Hivep3	UTSW	4	119,953,570 (GRCm39)	missense	probably benign
R5740:Hivep3	UTSW	4	119,953,220 (GRCm39)	missense	possibly damaging	0.83
R5760:Hivep3	UTSW	4	119,952,208 (GRCm39)	missense	possibly damaging	0.83
R5923:Hivep3	UTSW	4	119,953,490 (GRCm39)	missense	possibly damaging	0.92
R5927:Hivep3	UTSW	4	119,954,305 (GRCm39)	missense	possibly damaging	0.68
R6042:Hivep3	UTSW	4	119,955,061 (GRCm39)	missense	possibly damaging	0.85
R6074:Hivep3	UTSW	4	119,954,891 (GRCm39)	missense	possibly damaging	0.68
R6150:Hivep3	UTSW	4	119,591,274 (GRCm39)	nonsense	probably null
R6211:Hivep3	UTSW	4	119,955,602 (GRCm39)	missense	probably damaging	1.00
R6251:Hivep3	UTSW	4	119,952,137 (GRCm39)	missense	probably damaging	0.98
R6451:Hivep3	UTSW	4	119,956,105 (GRCm39)	missense	probably benign	0.22
R6531:Hivep3	UTSW	4	119,980,073 (GRCm39)	nonsense	probably null
R6651:Hivep3	UTSW	4	119,980,146 (GRCm39)	missense	probably damaging	1.00
R6701:Hivep3	UTSW	4	119,951,737 (GRCm39)	missense	probably damaging	0.97
R6721:Hivep3	UTSW	4	119,952,296 (GRCm39)	missense	possibly damaging	0.82
R6796:Hivep3	UTSW	4	119,953,558 (GRCm39)	missense	possibly damaging	0.68
R6864:Hivep3	UTSW	4	119,952,085 (GRCm39)	missense	possibly damaging	0.48
R6902:Hivep3	UTSW	4	119,953,192 (GRCm39)	missense	possibly damaging	0.48
R7111:Hivep3	UTSW	4	119,952,431 (GRCm39)	missense	possibly damaging	0.68
R7113:Hivep3	UTSW	4	119,955,566 (GRCm39)	missense	probably damaging	1.00
R7140:Hivep3	UTSW	4	119,954,318 (GRCm39)	missense	probably damaging	0.99
R7189:Hivep3	UTSW	4	119,989,416 (GRCm39)	missense	probably damaging	0.99
R7218:Hivep3	UTSW	4	119,952,649 (GRCm39)	missense	possibly damaging	0.92
R7366:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7368:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7491:Hivep3	UTSW	4	119,956,027 (GRCm39)	missense	probably benign	0.09
R7496:Hivep3	UTSW	4	119,989,599 (GRCm39)	missense	probably benign	0.00
R7514:Hivep3	UTSW	4	119,954,052 (GRCm39)	missense	possibly damaging	0.48
R7604:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7605:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7607:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7610:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7611:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7613:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7626:Hivep3	UTSW	4	119,955,108 (GRCm39)	frame shift	probably null
R7707:Hivep3	UTSW	4	119,591,156 (GRCm39)	missense
R7736:Hivep3	UTSW	4	119,952,740 (GRCm39)	missense	possibly damaging	0.92
R7915:Hivep3	UTSW	4	119,954,962 (GRCm39)	missense	possibly damaging	0.83
R7943:Hivep3	UTSW	4	119,989,554 (GRCm39)	missense	probably benign	0.01
R7972:Hivep3	UTSW	4	119,954,711 (GRCm39)	missense	possibly damaging	0.48
R8093:Hivep3	UTSW	4	119,952,632 (GRCm39)	missense	possibly damaging	0.68
R8111:Hivep3	UTSW	4	119,955,583 (GRCm39)	missense	probably damaging	0.99
R8215:Hivep3	UTSW	4	119,980,098 (GRCm39)	missense	probably damaging	1.00
R8364:Hivep3	UTSW	4	119,956,639 (GRCm39)	missense	probably benign	0.10
R8467:Hivep3	UTSW	4	119,952,238 (GRCm39)	missense	probably damaging	0.98
R8768:Hivep3	UTSW	4	119,989,521 (GRCm39)	missense	probably damaging	0.99
R8890:Hivep3	UTSW	4	119,953,657 (GRCm39)	missense	possibly damaging	0.95
R8902:Hivep3	UTSW	4	119,953,937 (GRCm39)	missense	possibly damaging	0.83
R9022:Hivep3	UTSW	4	119,955,304 (GRCm39)	missense	probably benign	0.09
R9336:Hivep3	UTSW	4	119,952,400 (GRCm39)	missense	possibly damaging	0.84
R9606:Hivep3	UTSW	4	119,989,786 (GRCm39)	missense	probably damaging	0.98
RF019:Hivep3	UTSW	4	119,955,467 (GRCm39)	missense	probably benign	0.12
X0062:Hivep3	UTSW	4	119,955,895 (GRCm39)	missense	probably damaging	1.00
X0067:Hivep3	UTSW	4	119,988,984 (GRCm39)	missense	probably damaging	0.96
Z1176:Hivep3	UTSW	4	119,990,979 (GRCm39)	missense	probably damaging	1.00
Z1177:Hivep3	UTSW	4	119,988,975 (GRCm39)	nonsense	probably null
Z1177:Hivep3	UTSW	4	119,953,143 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TCCGTGTTTCCAGCAGGAATTCAAG -3'
(R):5'- AATCCCAGCACTGTGGCACTTC -3'

Sequencing Primer
(F):5'- GAATTCAAGAGGGATGCTTCTG -3'
(R):5'- GTGGCACTTCCCGGTGG -3'

Posted On

2014-01-15