Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Hivep3'

678228

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

068759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119590982-119992608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119953937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 751 (E751G)

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

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

AlphaFold

A2A884

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106307
AA Change: E751G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: E751G

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

possibly damaging
Transcript: ENSMUST00000166542
AA Change: E751G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: E751G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	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
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
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'- AGCCTTGGTCCCAGATGATG -3'
(R):5'- AACCTGAATGTTGGGCTGC -3'

Sequencing Primer
(F):5'- CATTATAAACTGGGGGCCACCTTG -3'
(R):5'- AACCTTGGCTGCAGGGAGTG -3'

Posted On

2021-08-02