Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Hivep3'

102100

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

039258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119733784-120138045 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 119814723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101914 (fasta)

Gene Model

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

AlphaFold

A2A884

Predicted Effect

probably benign
Transcript: ENSMUST00000106307

SMART Domains

Protein: ENSMUSP00000101914
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

noncoding transcript
Transcript: ENSMUST00000123698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144907

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652 (GRCm38)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,403,078 (GRCm38)	V49I	probably benign	Het
A2m	T	C	6: 121,661,534 (GRCm38)	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549 (GRCm38)		probably benign	Het
Adamtsl1	A	G	4: 86,388,509 (GRCm38)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341 (GRCm38)		probably null	Het
Ank3	G	T	10: 69,867,460 (GRCm38)	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269 (GRCm38)		probably benign	Het
Bltp1	T	C	3: 36,996,312 (GRCm38)		probably benign	Het
C4b	T	C	17: 34,736,309 (GRCm38)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376 (GRCm38)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994 (GRCm38)	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959 (GRCm38)		probably benign	Het
Cyp4f14	T	C	17: 32,916,786 (GRCm38)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629 (GRCm38)		probably null	Het
Ddx5	T	C	11: 106,783,979 (GRCm38)		probably null	Het
Dnah2	A	T	11: 69,515,700 (GRCm38)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039 (GRCm38)	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174 (GRCm38)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586 (GRCm38)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405 (GRCm38)		probably benign	Het
Galnt17	G	T	5: 131,111,742 (GRCm38)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,593,685 (GRCm38)		probably benign	Het
Helz2	T	A	2: 181,231,128 (GRCm38)	R2433W	probably damaging	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm38)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583 (GRCm38)	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201 (GRCm38)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008 (GRCm38)	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894 (GRCm38)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269 (GRCm38)	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403 (GRCm38)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945 (GRCm38)		probably benign	Het
Med24	T	C	11: 98,717,757 (GRCm38)		probably benign	Het
Mtbp	G	A	15: 55,564,671 (GRCm38)	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852 (GRCm38)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,162,037 (GRCm38)		probably null	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,261,471 (GRCm38)		noncoding transcript	Het
Nup107	A	C	10: 117,777,146 (GRCm38)	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024 (GRCm38)		probably benign	Het
Nxpe4	A	C	9: 48,393,392 (GRCm38)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829 (GRCm38)	G206R	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,157 (GRCm38)	S142P	probably damaging	Het
Or6z7	T	C	7: 6,480,542 (GRCm38)	I205V	probably benign	Het
Or8b42	T	C	9: 38,431,101 (GRCm38)	V273A	possibly damaging	Het
Or8k37	A	T	2: 86,639,463 (GRCm38)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,670,451 (GRCm38)	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138 (GRCm38)	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447 (GRCm38)	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Senp2	T	C	16: 22,011,504 (GRCm38)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231 (GRCm38)		probably null	Het
Spred1	A	T	2: 117,177,697 (GRCm38)	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907 (GRCm38)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528 (GRCm38)		probably benign	Het
Taar8c	G	C	10: 24,101,565 (GRCm38)	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046 (GRCm38)	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633 (GRCm38)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131 (GRCm38)	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226 (GRCm38)	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122 (GRCm38)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626 (GRCm38)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892 (GRCm38)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067 (GRCm38)	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448 (GRCm38)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949 (GRCm38)	L161F	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
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
R4713:Hivep3	UTSW	4	120,131,803 (GRCm38)	missense	probably damaging	1.00
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'- TCCGTGTTTCCAGCAGGAATTCAAG -3'
(R):5'- AATCCCAGCACTGTGGCACTTC -3'

Sequencing Primer
(F):5'- GAATTCAAGAGGGATGCTTCTG -3'
(R):5'- GTGGCACTTCCCGGTGG -3'

Posted On

2014-01-15