Mutagenetix > Incidental Mutation

Incidental Mutation 'R9480:Hivep1'

716206

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R9480 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42205304-42338504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42337058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 2379 (Q2379L)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060148
AA Change: Q2379L

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

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: Q2379L

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: ENSMUST00000220801

Predicted Effect

probably benign
Transcript: ENSMUST00000222854

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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
Abcc1	T	A	16: 14,211,889 (GRCm39)	W142R	probably damaging	Het
Abcc6	A	G	7: 45,629,197 (GRCm39)	S1350P	probably damaging	Het
Abraxas2	G	T	7: 132,473,323 (GRCm39)	V84L	probably benign	Het
Adam12	T	A	7: 133,736,470 (GRCm39)	I81F	probably damaging	Het
Adam22	A	G	5: 8,193,077 (GRCm39)	V376A	probably benign	Het
Anapc11	T	A	11: 120,496,176 (GRCm39)	I60N	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,690,420 (GRCm39)	V876E	possibly damaging	Het
Bcar3	C	T	3: 122,277,618 (GRCm39)	R21*	probably null	Het
Calb1	T	A	4: 15,885,608 (GRCm39)	S60T	probably benign	Het
Ceacam9	A	G	7: 16,457,783 (GRCm39)	T99A	probably damaging	Het
Cemip2	C	A	19: 21,775,622 (GRCm39)	H288Q	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cnot1	T	C	8: 96,497,338 (GRCm39)	D213G	possibly damaging	Het
Col23a1	T	A	11: 51,207,774 (GRCm39)	C105S	unknown	Het
Cxcl2	T	C	5: 91,052,029 (GRCm39)	V45A	possibly damaging	Het
Ddx21	T	C	10: 62,434,652 (GRCm39)	T36A	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dus2	C	T	8: 106,757,052 (GRCm39)	Q81*	probably null	Het
Fat3	T	C	9: 15,942,703 (GRCm39)	D1223G	probably damaging	Het
Fgf3	G	T	7: 144,396,619 (GRCm39)	R211L	possibly damaging	Het
Galnt17	T	A	5: 130,935,576 (GRCm39)	E369V	probably damaging	Het
Gatad2a	T	C	8: 70,388,459 (GRCm39)	D76G	probably damaging	Het
Gin1	A	G	1: 97,705,198 (GRCm39)	E96G	probably damaging	Het
Gpr55	A	C	1: 85,868,977 (GRCm39)	Y201*	probably null	Het
Hgsnat	T	C	8: 26,442,029 (GRCm39)	N499D	possibly damaging	Het
Hipk2	G	T	6: 38,680,377 (GRCm39)	P988T	probably benign	Het
Kat14	T	A	2: 144,215,745 (GRCm39)	C77S	probably damaging	Het
Klhl25	T	C	7: 75,516,120 (GRCm39)	V342A	probably damaging	Het
Krt35	T	C	11: 99,986,609 (GRCm39)	Q135R	probably benign	Het
Lhfpl2	T	A	13: 94,310,733 (GRCm39)	M1K	probably null	Het
Lipk	T	A	19: 33,999,101 (GRCm39)	L132Q	probably damaging	Het
Lrrc39	T	A	3: 116,359,475 (GRCm39)	C7S	probably benign	Het
Ltb4r2	T	A	14: 56,000,089 (GRCm39)	W237R	probably damaging	Het
Mesp2	A	G	7: 79,461,034 (GRCm39)	I120V	probably damaging	Het
Mfsd6	A	G	1: 52,699,835 (GRCm39)	V771A	unknown	Het
Mtfmt	A	T	9: 65,351,181 (GRCm39)	T243S	possibly damaging	Het
Nlrp12	A	T	7: 3,288,993 (GRCm39)	C506*	probably null	Het
Ntng2	T	A	2: 29,137,997 (GRCm39)	Y19F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
P4hb	A	T	11: 120,463,551 (GRCm39)	V28D	probably damaging	Het
Phkb	T	G	8: 86,684,216 (GRCm39)	S424R	probably benign	Het
Poldip2	T	C	11: 78,411,988 (GRCm39)	L308S	probably damaging	Het
Prkd1	T	A	12: 50,435,283 (GRCm39)	E481D	probably benign	Het
Serping1	C	T	2: 84,600,487 (GRCm39)	S285N	probably benign	Het
Sh2d2a	A	C	3: 87,759,638 (GRCm39)	I350L	probably benign	Het
Siglecf	G	T	7: 43,001,666 (GRCm39)	V159L	possibly damaging	Het
Sspo	A	G	6: 48,470,820 (GRCm39)	N36S	probably damaging	Het
Sytl2	C	T	7: 90,020,718 (GRCm39)	T147M	possibly damaging	Het
Tmc7	A	G	7: 118,141,226 (GRCm39)	F635S	probably benign	Het
Tmco1	C	T	1: 167,157,757 (GRCm39)	L175F		Het
Ttc39d	A	G	17: 80,524,139 (GRCm39)	H266R	probably benign	Het
Usp33	T	G	3: 152,079,086 (GRCm39)	I446R	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zbtb49	T	A	5: 38,358,409 (GRCm39)	T615S	possibly damaging	Het
Zbtb8a	G	T	4: 129,253,875 (GRCm39)	H206Q	probably benign	Het
Zfp180	A	G	7: 23,804,628 (GRCm39)	N349S	probably benign	Het
Zfp345	A	T	2: 150,315,212 (GRCm39)	C108*	probably null	Het
Zfp420	T	A	7: 29,575,497 (GRCm39)	H572Q	probably benign	Het
Zfp423	A	G	8: 88,631,115 (GRCm39)		probably null	Het
Zfp820	T	A	17: 22,037,994 (GRCm39)	T445S	possibly damaging	Het
Zim1	T	C	7: 6,681,050 (GRCm39)	I204M	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
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
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
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'- GGTGATGAAGGCTATCTGGC -3'
(R):5'- AGCTTCAGTGATGGTATCCCC -3'

Sequencing Primer
(F):5'- ATTCATCTGTGGGGCTGCCC -3'
(R):5'- TGGTATCCCCAGAGGTGC -3'

Posted On

2022-07-18