Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Hivep3'

588588

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

045715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

119590982-119992608 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 119955108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

at position 1141 (1141)

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]

AlphaFold

A2A884

Predicted Effect

probably null
Transcript: ENSMUST00000106307
AA Change: 1141

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: 1141

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 null
Transcript: ENSMUST00000166542

SMART Domains

Protein: ENSMUSP00000130249
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

probably benign
Transcript: ENSMUST00000226560

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	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
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
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
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'- AGATCTCTGTGGGCACTACG -3'
(R):5'- CTGCAGTGCAAACTGGGATTG -3'

Sequencing Primer
(F):5'- TCTGTGGGCACTACGCAAGG -3'
(R):5'- TTGCAGAGGGAGGAAATATCC -3'

Posted On

2019-10-24