Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Hivep1'

353695

Institutional Source

Beutler Lab

Gene Symbol

Hivep1

Ensembl Gene

ENSMUSG00000021366

Gene Name

human immunodeficiency virus type I enhancer binding protein 1

Synonyms

Cryabp1, alphaA-CRYBP1

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42205304-42338504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42309326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 522 (T522M)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060148] [ENSMUST00000220525]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060148
AA Change: T522M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: T522M

Domain	Start	End	E-Value	Type
coiled coil region	10	36	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	355	371	N/A	INTRINSIC
low complexity region	376	388	N/A	INTRINSIC
ZnF_C2H2	407	429	4.79e-3	SMART
ZnF_C2H2	435	457	1.95e-3	SMART
low complexity region	488	504	N/A	INTRINSIC
low complexity region	595	609	N/A	INTRINSIC
low complexity region	844	854	N/A	INTRINSIC
ZnF_C2H2	953	980	1.53e2	SMART
low complexity region	1253	1271	N/A	INTRINSIC
low complexity region	1275	1307	N/A	INTRINSIC
low complexity region	1585	1608	N/A	INTRINSIC
low complexity region	1902	1912	N/A	INTRINSIC
ZnF_C2H2	2074	2096	2.24e-3	SMART
ZnF_C2H2	2102	2126	1.5e-4	SMART
low complexity region	2164	2183	N/A	INTRINSIC
low complexity region	2299	2313	N/A	INTRINSIC
low complexity region	2345	2365	N/A	INTRINSIC
low complexity region	2517	2527	N/A	INTRINSIC
low complexity region	2580	2594	N/A	INTRINSIC
low complexity region	2629	2642	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Hivep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Hivep1	APN	13	42,308,125 (GRCm39)	missense	probably benign	0.00
IGL00572:Hivep1	APN	13	42,312,347 (GRCm39)	missense	probably benign	0.00
IGL00820:Hivep1	APN	13	42,337,294 (GRCm39)	missense	probably benign	0.29
IGL00846:Hivep1	APN	13	42,321,092 (GRCm39)	nonsense	probably null
IGL01068:Hivep1	APN	13	42,313,460 (GRCm39)	missense	probably benign	0.00
IGL01431:Hivep1	APN	13	42,311,493 (GRCm39)	missense	probably damaging	0.96
IGL01664:Hivep1	APN	13	42,312,755 (GRCm39)	missense	probably benign	0.18
IGL01833:Hivep1	APN	13	42,308,464 (GRCm39)	nonsense	probably null
IGL02037:Hivep1	APN	13	42,309,553 (GRCm39)	missense	probably benign	0.00
IGL02375:Hivep1	APN	13	42,309,925 (GRCm39)	missense	probably benign	0.30
IGL02414:Hivep1	APN	13	42,308,385 (GRCm39)	missense	probably damaging	0.99
IGL02609:Hivep1	APN	13	42,309,130 (GRCm39)	missense	probably damaging	0.98
IGL02649:Hivep1	APN	13	42,310,787 (GRCm39)	missense	possibly damaging	0.69
IGL02654:Hivep1	APN	13	42,311,161 (GRCm39)	missense	probably damaging	0.97
IGL02977:Hivep1	APN	13	42,309,412 (GRCm39)	missense	possibly damaging	0.94
IGL03124:Hivep1	APN	13	42,312,380 (GRCm39)	missense	possibly damaging	0.66
IGL03050:Hivep1	UTSW	13	42,309,604 (GRCm39)	missense	probably benign	0.12
PIT4305001:Hivep1	UTSW	13	42,335,147 (GRCm39)	missense
R0067:Hivep1	UTSW	13	42,312,132 (GRCm39)	missense	probably benign	0.00
R0067:Hivep1	UTSW	13	42,312,132 (GRCm39)	missense	probably benign	0.00
R0078:Hivep1	UTSW	13	42,309,517 (GRCm39)	missense	probably damaging	1.00
R0194:Hivep1	UTSW	13	42,308,911 (GRCm39)	missense	probably damaging	1.00
R0195:Hivep1	UTSW	13	42,309,629 (GRCm39)	missense	probably benign
R0245:Hivep1	UTSW	13	42,317,766 (GRCm39)	missense	possibly damaging	0.93
R0348:Hivep1	UTSW	13	42,311,855 (GRCm39)	missense	possibly damaging	0.65
R0654:Hivep1	UTSW	13	42,313,232 (GRCm39)	missense	probably benign	0.16
R0655:Hivep1	UTSW	13	42,321,061 (GRCm39)	missense	probably damaging	1.00
R0717:Hivep1	UTSW	13	42,308,422 (GRCm39)	missense	possibly damaging	0.46
R1013:Hivep1	UTSW	13	42,310,438 (GRCm39)	missense	probably damaging	1.00
R1216:Hivep1	UTSW	13	42,310,997 (GRCm39)	missense	probably benign	0.03
R1256:Hivep1	UTSW	13	42,335,307 (GRCm39)	missense	probably damaging	1.00
R1435:Hivep1	UTSW	13	42,311,519 (GRCm39)	missense	probably damaging	1.00
R1437:Hivep1	UTSW	13	42,310,616 (GRCm39)	missense	probably benign	0.03
R1438:Hivep1	UTSW	13	42,311,596 (GRCm39)	missense	probably benign	0.00
R1672:Hivep1	UTSW	13	42,313,760 (GRCm39)	missense	probably damaging	0.96
R1733:Hivep1	UTSW	13	42,311,407 (GRCm39)	missense	probably damaging	1.00
R1762:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R1786:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R1909:Hivep1	UTSW	13	42,309,122 (GRCm39)	missense	probably benign	0.38
R1993:Hivep1	UTSW	13	42,310,969 (GRCm39)	missense	probably benign	0.00
R2004:Hivep1	UTSW	13	42,313,625 (GRCm39)	missense	possibly damaging	0.47
R2061:Hivep1	UTSW	13	42,313,600 (GRCm39)	missense	possibly damaging	0.80
R2069:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R2075:Hivep1	UTSW	13	42,309,794 (GRCm39)	missense	probably damaging	0.98
R2076:Hivep1	UTSW	13	42,317,869 (GRCm39)	critical splice donor site	probably null
R2085:Hivep1	UTSW	13	42,337,226 (GRCm39)	missense	probably benign	0.34
R3701:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3702:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3716:Hivep1	UTSW	13	42,311,971 (GRCm39)	missense	probably damaging	1.00
R3718:Hivep1	UTSW	13	42,311,971 (GRCm39)	missense	probably damaging	1.00
R3719:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3720:Hivep1	UTSW	13	42,312,077 (GRCm39)	missense	probably benign	0.01
R3820:Hivep1	UTSW	13	42,337,787 (GRCm39)	missense	possibly damaging	0.46
R3822:Hivep1	UTSW	13	42,337,787 (GRCm39)	missense	possibly damaging	0.46
R3842:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R4379:Hivep1	UTSW	13	42,308,906 (GRCm39)	missense	probably damaging	1.00
R4525:Hivep1	UTSW	13	42,309,289 (GRCm39)	missense	probably benign
R4587:Hivep1	UTSW	13	42,309,704 (GRCm39)	missense	probably benign	0.00
R4604:Hivep1	UTSW	13	42,313,225 (GRCm39)	missense	probably benign	0.08
R4725:Hivep1	UTSW	13	42,316,887 (GRCm39)	missense	probably benign	0.19
R4924:Hivep1	UTSW	13	42,311,792 (GRCm39)	missense	probably benign	0.20
R5009:Hivep1	UTSW	13	42,312,229 (GRCm39)	missense	probably benign	0.06
R5320:Hivep1	UTSW	13	42,313,115 (GRCm39)	missense	probably damaging	1.00
R5385:Hivep1	UTSW	13	42,317,871 (GRCm39)	splice site	probably null
R5498:Hivep1	UTSW	13	42,276,634 (GRCm39)	critical splice acceptor site	probably null
R5521:Hivep1	UTSW	13	42,311,804 (GRCm39)	missense	probably damaging	1.00
R5529:Hivep1	UTSW	13	42,310,126 (GRCm39)	missense	possibly damaging	0.81
R5584:Hivep1	UTSW	13	42,313,593 (GRCm39)	missense	probably benign
R5635:Hivep1	UTSW	13	42,313,603 (GRCm39)	missense	probably benign	0.16
R5636:Hivep1	UTSW	13	42,316,932 (GRCm39)	missense	possibly damaging	0.92
R5886:Hivep1	UTSW	13	42,310,088 (GRCm39)	missense	probably damaging	1.00
R5895:Hivep1	UTSW	13	42,310,694 (GRCm39)	missense	possibly damaging	0.95
R5981:Hivep1	UTSW	13	42,313,664 (GRCm39)	missense	probably damaging	1.00
R6012:Hivep1	UTSW	13	42,337,934 (GRCm39)	missense	possibly damaging	0.50
R6033:Hivep1	UTSW	13	42,310,583 (GRCm39)	missense	probably benign	0.20
R6033:Hivep1	UTSW	13	42,310,583 (GRCm39)	missense	probably benign	0.20
R6037:Hivep1	UTSW	13	42,311,416 (GRCm39)	missense	probably damaging	1.00
R6037:Hivep1	UTSW	13	42,311,416 (GRCm39)	missense	probably damaging	1.00
R6241:Hivep1	UTSW	13	42,311,846 (GRCm39)	missense	probably benign	0.01
R6247:Hivep1	UTSW	13	42,310,966 (GRCm39)	missense	probably benign
R6343:Hivep1	UTSW	13	42,313,147 (GRCm39)	nonsense	probably null
R6631:Hivep1	UTSW	13	42,309,956 (GRCm39)	missense	probably damaging	0.96
R6720:Hivep1	UTSW	13	42,317,760 (GRCm39)	missense	probably damaging	1.00
R6767:Hivep1	UTSW	13	42,308,203 (GRCm39)	missense	probably damaging	0.99
R6797:Hivep1	UTSW	13	42,310,557 (GRCm39)	missense	probably benign	0.00
R6800:Hivep1	UTSW	13	42,310,852 (GRCm39)	missense	probably damaging	1.00
R6854:Hivep1	UTSW	13	42,309,983 (GRCm39)	missense	probably damaging	1.00
R6919:Hivep1	UTSW	13	42,336,928 (GRCm39)	missense	probably benign	0.00
R6993:Hivep1	UTSW	13	42,312,190 (GRCm39)	missense	possibly damaging	0.94
R7104:Hivep1	UTSW	13	42,310,814 (GRCm39)	missense	probably benign	0.26
R7139:Hivep1	UTSW	13	42,313,430 (GRCm39)	missense	probably benign	0.28
R7186:Hivep1	UTSW	13	42,309,814 (GRCm39)	missense	probably benign	0.01
R7227:Hivep1	UTSW	13	42,310,387 (GRCm39)	missense	probably benign	0.02
R7263:Hivep1	UTSW	13	42,311,668 (GRCm39)	missense	possibly damaging	0.50
R7438:Hivep1	UTSW	13	42,308,387 (GRCm39)	missense	probably damaging	0.99
R7490:Hivep1	UTSW	13	42,311,126 (GRCm39)	missense	probably damaging	1.00
R7583:Hivep1	UTSW	13	42,317,716 (GRCm39)	missense	probably damaging	1.00
R7708:Hivep1	UTSW	13	42,317,753 (GRCm39)	nonsense	probably null
R7763:Hivep1	UTSW	13	42,312,937 (GRCm39)	missense	probably benign	0.12
R7840:Hivep1	UTSW	13	42,308,828 (GRCm39)	missense	probably benign
R7864:Hivep1	UTSW	13	42,312,290 (GRCm39)	missense	probably benign	0.02
R7913:Hivep1	UTSW	13	42,309,842 (GRCm39)	missense	probably benign	0.00
R7934:Hivep1	UTSW	13	42,308,174 (GRCm39)	missense	probably benign	0.17
R8017:Hivep1	UTSW	13	42,321,098 (GRCm39)	missense
R8019:Hivep1	UTSW	13	42,321,098 (GRCm39)	missense
R8312:Hivep1	UTSW	13	42,308,653 (GRCm39)	missense	possibly damaging	0.80
R8336:Hivep1	UTSW	13	42,309,405 (GRCm39)	missense	probably benign	0.00
R8415:Hivep1	UTSW	13	42,308,905 (GRCm39)	missense	probably benign	0.20
R8477:Hivep1	UTSW	13	42,337,696 (GRCm39)	missense	probably benign	0.00
R8868:Hivep1	UTSW	13	42,312,407 (GRCm39)	missense	possibly damaging	0.82
R9015:Hivep1	UTSW	13	42,311,849 (GRCm39)	missense	probably benign	0.34
R9185:Hivep1	UTSW	13	42,337,975 (GRCm39)	missense	possibly damaging	0.86
R9225:Hivep1	UTSW	13	42,337,184 (GRCm39)	missense	probably damaging	1.00
R9330:Hivep1	UTSW	13	42,317,713 (GRCm39)	missense	probably damaging	1.00
R9364:Hivep1	UTSW	13	42,308,251 (GRCm39)	missense	possibly damaging	0.63
R9377:Hivep1	UTSW	13	42,335,403 (GRCm39)	missense	probably benign	0.13
R9422:Hivep1	UTSW	13	42,313,213 (GRCm39)	missense	probably benign	0.06
R9451:Hivep1	UTSW	13	42,337,252 (GRCm39)	missense	probably benign	0.00
R9480:Hivep1	UTSW	13	42,337,058 (GRCm39)	missense	probably damaging	1.00
R9490:Hivep1	UTSW	13	42,311,518 (GRCm39)	missense	probably damaging	0.96
R9502:Hivep1	UTSW	13	42,322,779 (GRCm39)	missense
R9554:Hivep1	UTSW	13	42,308,251 (GRCm39)	missense	possibly damaging	0.63
X0060:Hivep1	UTSW	13	42,308,461 (GRCm39)	missense	probably benign	0.07
X0067:Hivep1	UTSW	13	42,310,193 (GRCm39)	missense	probably damaging	0.98
Z1177:Hivep1	UTSW	13	42,313,457 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

Posted On

2015-10-21