Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Hivep3'

353351

Institutional Source

Beutler Lab

Gene Symbol

Hivep3

Ensembl Gene

ENSMUSG00000028634

Gene Name

human immunodeficiency virus type I enhancer binding protein 3

Synonyms

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

MMRRC Submission

041601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4713 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120131803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1817 (E1817G)

Ref Sequence

ENSEMBL: ENSMUSP00000130249 (fasta)

Gene Model

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

AlphaFold

A2A884

Predicted Effect

probably damaging
Transcript: ENSMUST00000106307
AA Change: E1817G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: E1817G

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: E1817G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: E1817G

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: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532 (GRCm38)	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153 (GRCm38)	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193 (GRCm38)	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514 (GRCm38)	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688 (GRCm38)	E204*	probably null	Het
Cd163	T	A	6: 124,317,618 (GRCm38)		probably null	Het
Cep152	C	A	2: 125,587,948 (GRCm38)	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841 (GRCm38)	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465 (GRCm38)	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574 (GRCm38)	E762G	unknown	Het
Creb3	A	G	4: 43,563,247 (GRCm38)	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481 (GRCm38)	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688 (GRCm38)	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804 (GRCm38)	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839 (GRCm38)		probably null	Het
Gimap8	A	T	6: 48,658,986 (GRCm38)	M562L	probably benign	Het
Gprc6a	T	A	10: 51,631,457 (GRCm38)		probably benign	Het
Gsr	T	G	8: 33,680,319 (GRCm38)		probably null	Het
Gstcd	A	G	3: 132,983,099 (GRCm38)	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980 (GRCm38)	I116T	probably benign	Het
Inpp5f	A	C	7: 128,663,725 (GRCm38)	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027 (GRCm38)		silent	Het
Itga11	A	G	9: 62,765,788 (GRCm38)	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958 (GRCm38)	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137 (GRCm38)	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315 (GRCm38)	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868 (GRCm38)	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966 (GRCm38)	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577 (GRCm38)	T773I	probably benign	Het
Mki67	A	G	7: 135,695,469 (GRCm38)	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131 (GRCm38)	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079 (GRCm38)	Y673*	probably null	Het
Myo15a	A	G	11: 60,479,930 (GRCm38)	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080 (GRCm38)	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641 (GRCm38)	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656 (GRCm38)	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460 (GRCm38)	D462E	probably benign	Het
Or2av9	T	C	11: 58,490,087 (GRCm38)	T223A	probably benign	Het
Pira13	G	T	7: 3,822,681 (GRCm38)	Y396*	probably null	Het
Plec	T	C	15: 76,181,067 (GRCm38)	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396 (GRCm38)	M35I	probably benign	Het
Reln	T	A	5: 22,152,463 (GRCm38)	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602 (GRCm38)	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129 (GRCm38)		probably null	Het
Scn10a	C	T	9: 119,609,651 (GRCm38)	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296 (GRCm38)	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080 (GRCm38)	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283 (GRCm38)	V261A	possibly damaging	Het
Slc49a3	T	C	5: 108,442,079 (GRCm38)	T486A	probably damaging	Het
Ssmem1	A	G	6: 30,519,514 (GRCm38)	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477 (GRCm38)	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921 (GRCm38)	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865 (GRCm38)	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528 (GRCm38)	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433 (GRCm38)	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435 (GRCm38)	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131 (GRCm38)	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439 (GRCm38)	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968 (GRCm38)	N89I	probably damaging	Het

Other mutations in Hivep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Hivep3	APN	4	120,098,374 (GRCm38)	missense	probably damaging	1.00
IGL01017:Hivep3	APN	4	120,099,246 (GRCm38)	missense	probably damaging	0.98
IGL01837:Hivep3	APN	4	120,094,562 (GRCm38)	missense	possibly damaging	0.72
IGL01878:Hivep3	APN	4	120,095,227 (GRCm38)	missense	possibly damaging	0.84
IGL02134:Hivep3	APN	4	120,133,574 (GRCm38)	splice site	probably benign
IGL02183:Hivep3	APN	4	120,132,024 (GRCm38)	missense	probably benign	0.04
IGL02350:Hivep3	APN	4	120,123,025 (GRCm38)	missense	probably damaging	1.00
IGL02451:Hivep3	APN	4	120,133,965 (GRCm38)	missense	probably damaging	1.00
IGL02567:Hivep3	APN	4	120,133,956 (GRCm38)	missense	probably damaging	0.99
IGL02617:Hivep3	APN	4	120,095,444 (GRCm38)	missense	probably benign	0.04
IGL02725:Hivep3	APN	4	120,095,822 (GRCm38)	missense	possibly damaging	0.48
IGL02828:Hivep3	APN	4	120,097,732 (GRCm38)	nonsense	probably null
IGL02954:Hivep3	APN	4	120,133,641 (GRCm38)	missense	probably damaging	1.00
IGL02966:Hivep3	APN	4	120,132,186 (GRCm38)	missense	probably benign	0.04
Branchial	UTSW	4	120,096,575 (GRCm38)	missense	possibly damaging	0.92
Deceit	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
Mandible	UTSW	4	120,097,121 (GRCm38)	missense	probably damaging	0.99
Sclerotic	UTSW	4	120,095,099 (GRCm38)	missense	possibly damaging	0.82
Stealth	UTSW	4	120,122,876 (GRCm38)	nonsense	probably null
Yellowjacket	UTSW	4	120,132,357 (GRCm38)	missense	probably benign	0.01
PIT4260001:Hivep3	UTSW	4	120,099,182 (GRCm38)	missense	probably damaging	1.00
R0321:Hivep3	UTSW	4	120,095,591 (GRCm38)	missense	possibly damaging	0.84
R0336:Hivep3	UTSW	4	120,103,847 (GRCm38)	missense	probably damaging	1.00
R0558:Hivep3	UTSW	4	120,096,566 (GRCm38)	missense	probably damaging	0.98
R0562:Hivep3	UTSW	4	120,096,554 (GRCm38)	missense	probably benign	0.00
R0637:Hivep3	UTSW	4	120,132,541 (GRCm38)	nonsense	probably null
R0645:Hivep3	UTSW	4	120,097,334 (GRCm38)	missense	possibly damaging	0.95
R1186:Hivep3	UTSW	4	119,814,723 (GRCm38)	start gained	probably benign
R1254:Hivep3	UTSW	4	120,099,293 (GRCm38)	missense	probably damaging	1.00
R1428:Hivep3	UTSW	4	120,096,575 (GRCm38)	missense	possibly damaging	0.92
R1623:Hivep3	UTSW	4	120,095,704 (GRCm38)	missense	possibly damaging	0.84
R1739:Hivep3	UTSW	4	120,095,174 (GRCm38)	missense	probably benign	0.03
R1766:Hivep3	UTSW	4	120,096,671 (GRCm38)	missense	probably benign
R1769:Hivep3	UTSW	4	120,097,571 (GRCm38)	missense	possibly damaging	0.68
R1773:Hivep3	UTSW	4	120,098,837 (GRCm38)	missense	probably damaging	1.00
R1968:Hivep3	UTSW	4	120,096,238 (GRCm38)	missense	possibly damaging	0.83
R2220:Hivep3	UTSW	4	119,734,038 (GRCm38)	missense	possibly damaging	0.92
R2428:Hivep3	UTSW	4	120,098,508 (GRCm38)	nonsense	probably null
R3789:Hivep3	UTSW	4	120,098,416 (GRCm38)	missense	probably damaging	1.00
R3917:Hivep3	UTSW	4	120,099,427 (GRCm38)	missense	probably benign	0.27
R4366:Hivep3	UTSW	4	120,096,089 (GRCm38)	missense	possibly damaging	0.84
R4436:Hivep3	UTSW	4	120,095,923 (GRCm38)	missense	probably benign	0.11
R4504:Hivep3	UTSW	4	119,733,793 (GRCm38)	unclassified	probably benign
R4705:Hivep3	UTSW	4	119,872,050 (GRCm38)	intron	probably benign
R4756:Hivep3	UTSW	4	120,097,823 (GRCm38)	missense	probably damaging	0.98
R4887:Hivep3	UTSW	4	120,122,934 (GRCm38)	missense	probably damaging	1.00
R4888:Hivep3	UTSW	4	120,122,934 (GRCm38)	missense	probably damaging	1.00
R5008:Hivep3	UTSW	4	120,098,917 (GRCm38)	missense	probably benign	0.22
R5204:Hivep3	UTSW	4	120,103,856 (GRCm38)	critical splice donor site	probably null
R5594:Hivep3	UTSW	4	120,123,048 (GRCm38)	critical splice donor site	probably null
R5697:Hivep3	UTSW	4	120,096,955 (GRCm38)	missense	possibly damaging	0.68
R5715:Hivep3	UTSW	4	120,096,373 (GRCm38)	missense	probably benign
R5740:Hivep3	UTSW	4	120,096,023 (GRCm38)	missense	possibly damaging	0.83
R5760:Hivep3	UTSW	4	120,095,011 (GRCm38)	missense	possibly damaging	0.83
R5923:Hivep3	UTSW	4	120,096,293 (GRCm38)	missense	possibly damaging	0.92
R5927:Hivep3	UTSW	4	120,097,108 (GRCm38)	missense	possibly damaging	0.68
R6042:Hivep3	UTSW	4	120,097,864 (GRCm38)	missense	possibly damaging	0.85
R6074:Hivep3	UTSW	4	120,097,694 (GRCm38)	missense	possibly damaging	0.68
R6150:Hivep3	UTSW	4	119,734,077 (GRCm38)	nonsense	probably null
R6211:Hivep3	UTSW	4	120,098,405 (GRCm38)	missense	probably damaging	1.00
R6251:Hivep3	UTSW	4	120,094,940 (GRCm38)	missense	probably damaging	0.98
R6451:Hivep3	UTSW	4	120,098,908 (GRCm38)	missense	probably benign	0.22
R6531:Hivep3	UTSW	4	120,122,876 (GRCm38)	nonsense	probably null
R6651:Hivep3	UTSW	4	120,122,949 (GRCm38)	missense	probably damaging	1.00
R6701:Hivep3	UTSW	4	120,094,540 (GRCm38)	missense	probably damaging	0.97
R6721:Hivep3	UTSW	4	120,095,099 (GRCm38)	missense	possibly damaging	0.82
R6796:Hivep3	UTSW	4	120,096,361 (GRCm38)	missense	possibly damaging	0.68
R6864:Hivep3	UTSW	4	120,094,888 (GRCm38)	missense	possibly damaging	0.48
R6902:Hivep3	UTSW	4	120,095,995 (GRCm38)	missense	possibly damaging	0.48
R7111:Hivep3	UTSW	4	120,095,234 (GRCm38)	missense	possibly damaging	0.68
R7113:Hivep3	UTSW	4	120,098,369 (GRCm38)	missense	probably damaging	1.00
R7140:Hivep3	UTSW	4	120,097,121 (GRCm38)	missense	probably damaging	0.99
R7189:Hivep3	UTSW	4	120,132,219 (GRCm38)	missense	probably damaging	0.99
R7218:Hivep3	UTSW	4	120,095,452 (GRCm38)	missense	possibly damaging	0.92
R7366:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7368:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7491:Hivep3	UTSW	4	120,098,830 (GRCm38)	missense	probably benign	0.09
R7496:Hivep3	UTSW	4	120,132,402 (GRCm38)	missense	probably benign	0.00
R7514:Hivep3	UTSW	4	120,096,855 (GRCm38)	missense	possibly damaging	0.48
R7604:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7605:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7607:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7610:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7611:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7613:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7626:Hivep3	UTSW	4	120,097,911 (GRCm38)	frame shift	probably null
R7707:Hivep3	UTSW	4	119,733,959 (GRCm38)	missense
R7736:Hivep3	UTSW	4	120,095,543 (GRCm38)	missense	possibly damaging	0.92
R7915:Hivep3	UTSW	4	120,097,765 (GRCm38)	missense	possibly damaging	0.83
R7943:Hivep3	UTSW	4	120,132,357 (GRCm38)	missense	probably benign	0.01
R7972:Hivep3	UTSW	4	120,097,514 (GRCm38)	missense	possibly damaging	0.48
R8093:Hivep3	UTSW	4	120,095,435 (GRCm38)	missense	possibly damaging	0.68
R8111:Hivep3	UTSW	4	120,098,386 (GRCm38)	missense	probably damaging	0.99
R8215:Hivep3	UTSW	4	120,122,901 (GRCm38)	missense	probably damaging	1.00
R8364:Hivep3	UTSW	4	120,099,442 (GRCm38)	missense	probably benign	0.10
R8467:Hivep3	UTSW	4	120,095,041 (GRCm38)	missense	probably damaging	0.98
R8768:Hivep3	UTSW	4	120,132,324 (GRCm38)	missense	probably damaging	0.99
R8890:Hivep3	UTSW	4	120,096,460 (GRCm38)	missense	possibly damaging	0.95
R8902:Hivep3	UTSW	4	120,096,740 (GRCm38)	missense	possibly damaging	0.83
R9022:Hivep3	UTSW	4	120,098,107 (GRCm38)	missense	probably benign	0.09
R9336:Hivep3	UTSW	4	120,095,203 (GRCm38)	missense	possibly damaging	0.84
R9606:Hivep3	UTSW	4	120,132,589 (GRCm38)	missense	probably damaging	0.98
RF019:Hivep3	UTSW	4	120,098,270 (GRCm38)	missense	probably benign	0.12
X0062:Hivep3	UTSW	4	120,098,698 (GRCm38)	missense	probably damaging	1.00
X0067:Hivep3	UTSW	4	120,131,787 (GRCm38)	missense	probably damaging	0.96
Z1176:Hivep3	UTSW	4	120,133,782 (GRCm38)	missense	probably damaging	1.00
Z1177:Hivep3	UTSW	4	120,131,778 (GRCm38)	nonsense	probably null
Z1177:Hivep3	UTSW	4	120,095,946 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TATGTCACTTGGTCGTCTGC -3'
(R):5'- CAAATGCGTGGCTTCTGAG -3'

Sequencing Primer
(F):5'- TTAGCCTGAAGTGGCTGT -3'
(R):5'- GACCTCGTCAGAAGTGCTATCTG -3'

Posted On

2015-10-21