Mutagenetix > Incidental Mutation

Incidental Mutation 'R4924:Hivep1'

378897

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

042526-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R4924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42205304-42338504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42311792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1344 (S1344I)

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: S1344I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: S1344I

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,902,351 (GRCm39)	H625Y	probably damaging	Het
Adamts4	C	T	1: 171,086,643 (GRCm39)	R812W	probably damaging	Het
Ajuba	A	C	14: 54,809,056 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,344,503 (GRCm39)	V532D	probably damaging	Het
Arpc1b	G	A	5: 145,063,625 (GRCm39)	S295N	probably benign	Het
Baiap2	A	G	11: 119,887,850 (GRCm39)	S335G	probably damaging	Het
Brap	T	G	5: 121,803,318 (GRCm39)	N155K	probably damaging	Het
Btn1a1	A	G	13: 23,648,396 (GRCm39)		probably benign	Het
Ccl12	G	A	11: 81,993,475 (GRCm39)	V38I	probably benign	Het
Cemip	T	C	7: 83,602,146 (GRCm39)	Y881C	probably damaging	Het
Cep128	T	C	12: 90,989,174 (GRCm39)		silent	Het
Chd5	A	C	4: 152,450,886 (GRCm39)	D670A	possibly damaging	Het
Cmip	T	C	8: 117,983,994 (GRCm39)	Y52H	probably benign	Het
Dmtn	A	G	14: 70,855,399 (GRCm39)	I30T	probably benign	Het
Dscaml1	T	A	9: 45,656,487 (GRCm39)	M1609K	probably damaging	Het
Edar	C	A	10: 58,465,197 (GRCm39)	E55D	probably damaging	Het
Ehmt1	A	T	2: 24,729,734 (GRCm39)	I601N	probably damaging	Het
Fam120a	A	T	13: 49,055,572 (GRCm39)	N705K	probably benign	Het
Gm21718	G	T	14: 51,550,292 (GRCm39)		noncoding transcript	Het
Gnaz	A	G	10: 74,827,545 (GRCm39)	D99G	probably benign	Het
Helz	G	A	11: 107,493,165 (GRCm39)	G196D	probably damaging	Het
Hif1a	T	C	12: 73,986,331 (GRCm39)	S341P	probably damaging	Het
Hspa1l	T	A	17: 35,196,832 (GRCm39)	Y290*	probably null	Het
Ift81	A	G	5: 122,732,679 (GRCm39)	L285S	possibly damaging	Het
Inpp4b	T	A	8: 82,849,253 (GRCm39)	N891K	probably damaging	Het
Irx6	C	T	8: 93,404,981 (GRCm39)	T283M	probably benign	Het
Kdm5b	A	G	1: 134,559,089 (GRCm39)	K1538E	probably benign	Het
Kif13a	A	G	13: 47,083,075 (GRCm39)	V8A	probably damaging	Het
Krtap15-1	T	A	16: 88,626,036 (GRCm39)	N34K	probably damaging	Het
Lama2	T	G	10: 27,245,137 (GRCm39)	I215L	probably damaging	Het
Ldlrad3	C	T	2: 101,900,328 (GRCm39)	R58H	possibly damaging	Het
Lvrn	C	T	18: 47,027,792 (GRCm39)	P869L	probably damaging	Het
Myo1d	A	G	11: 80,565,504 (GRCm39)	F411S	probably damaging	Het
Myo5b	T	A	18: 74,828,455 (GRCm39)	H702Q	probably benign	Het
Nat8f4	G	T	6: 85,878,401 (GRCm39)	Q41K	probably benign	Het
Nckap5	C	A	1: 125,954,765 (GRCm39)	E596*	probably null	Het
Nek10	T	A	14: 14,846,594 (GRCm38)		probably null	Het
Notch3	T	C	17: 32,363,705 (GRCm39)	Y1145C	probably damaging	Het
Nr4a2	A	T	2: 57,002,035 (GRCm39)	H76Q	probably benign	Het
Nup98	T	C	7: 101,784,185 (GRCm39)	Q1049R	probably damaging	Het
Or4k48	A	T	2: 111,476,121 (GRCm39)	S74T	possibly damaging	Het
Or5k1b	T	A	16: 58,580,982 (GRCm39)	R186*	probably null	Het
Or8k33	A	T	2: 86,383,853 (GRCm39)	F205Y	probably damaging	Het
Pepd	T	C	7: 34,720,409 (GRCm39)	Y231H	probably benign	Het
Plagl1	G	T	10: 13,003,301 (GRCm39)	A190S	possibly damaging	Het
Plat	T	A	8: 23,268,269 (GRCm39)	I345N	probably damaging	Het
Pnmt	A	G	11: 98,278,286 (GRCm39)	E120G	probably damaging	Het
Prkrip1	C	A	5: 136,227,797 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,754 (GRCm39)	A572T	probably damaging	Het
Rbm4b	T	C	19: 4,807,400 (GRCm39)	F39L	probably damaging	Het
Rpe65	A	G	3: 159,328,268 (GRCm39)	H388R	probably benign	Het
Scn4a	G	T	11: 106,210,914 (GRCm39)	A1701E	possibly damaging	Het
Sdk2	C	A	11: 113,748,584 (GRCm39)	W616L	probably damaging	Het
Serpina3m	T	A	12: 104,357,729 (GRCm39)	S218T	probably benign	Het
Siglece	C	T	7: 43,309,297 (GRCm39)	R87H	probably damaging	Het
Sim1	C	A	10: 50,785,998 (GRCm39)	L284M	probably damaging	Het
Smok3c	G	T	5: 138,063,844 (GRCm39)	E444*	probably null	Het
Snx4	T	C	16: 33,115,100 (GRCm39)	V427A	probably benign	Het
Srp68	A	T	11: 116,151,684 (GRCm39)	V304E	probably damaging	Het
Stag1	A	T	9: 100,678,808 (GRCm39)	H243L	possibly damaging	Het
Stx6	T	C	1: 155,049,737 (GRCm39)	V14A	probably damaging	Het
Sv2b	T	A	7: 74,786,169 (GRCm39)	Y417F	probably benign	Het
Tas2r103	A	G	6: 133,013,161 (GRCm39)	Y302H	probably benign	Het
Thop1	T	C	10: 80,916,028 (GRCm39)	S404P	probably benign	Het
Trp53bp1	G	T	2: 121,051,701 (GRCm39)	C988*	probably null	Het
Tsbp1	C	T	17: 34,678,951 (GRCm39)	P221L	probably damaging	Het
Ube3c	A	G	5: 29,836,269 (GRCm39)	E630G	possibly damaging	Het
Usf3	T	C	16: 44,037,718 (GRCm39)	S733P	probably benign	Het
Vmn1r195	A	G	13: 22,463,189 (GRCm39)	T220A	probably benign	Het
Vmn1r201	A	T	13: 22,658,882 (GRCm39)	H32L	probably benign	Het
Wnt2	A	G	6: 18,023,239 (GRCm39)	C137R	probably damaging	Het
Ythdc2	T	C	18: 44,980,871 (GRCm39)	S489P	probably damaging	Het
Zfp248	A	G	6: 118,406,033 (GRCm39)	C418R	probably damaging	Het
Zfp946	T	G	17: 22,674,502 (GRCm39)	F419V	probably damaging	Het
Zfp994	C	T	17: 22,419,738 (GRCm39)	E404K	probably damaging	Het
Zfpm1	T	C	8: 123,061,347 (GRCm39)	V304A	possibly damaging	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
R4686:Hivep1	UTSW	13	42,309,326 (GRCm39)	missense	probably benign	0.00
R4725:Hivep1	UTSW	13	42,316,887 (GRCm39)	missense	probably benign	0.19
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

PCR Primer
(F):5'- GATAGAGCACTCCTCAACCG -3'
(R):5'- TTCTAGAAGGGGCACGTGTG -3'

Sequencing Primer
(F):5'- GAGTCAAGCTTCGAGTCCACTCTG -3'
(R):5'- TGCAGTGCCCCCAACAG -3'

Posted On

2016-04-15