Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Hivep3'

588352

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

045677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7607 (G1)

Quality Score

217.468

Status

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: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly 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
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'- CAGATCTCTGTGGGCACTAC -3'
(R):5'- CTGCAGTGCAAACTGGGATTG -3'

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

Posted On

2019-10-24