Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Hivep3'

559482

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

045238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119590982-119992608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119989416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1956 (S1956P)

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542]

AlphaFold

A2A884

Predicted Effect

probably damaging
Transcript: ENSMUST00000106307
AA Change: S1956P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: S1956P

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

probably damaging
Transcript: ENSMUST00000166542
AA Change: S1956P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: S1956P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	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
R1186:Hivep3	UTSW	4	119,671,920 (GRCm39)	start gained	probably benign
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
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'- CAGTTGTTCCACACCTAGCC -3'
(R):5'- CATCTCCTGGTGGGTGAATATCTG -3'

Sequencing Primer
(F):5'- CCACTGGAGAAGGACATGA -3'
(R):5'- CTGTGTCTGTGGCACGCTC -3'

Posted On

2019-06-26