Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Hivep1'

543989

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

045099-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42205304-42338504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42312190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1477 (L1477F)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060148
AA Change: L1477F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: L1477F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,975,053 (GRCm39)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,115,866 (GRCm39)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,620,097 (GRCm39)	I441F	probably damaging	Het
C5ar1	A	T	7: 15,982,837 (GRCm39)	V61E	probably damaging	Het
Camk2a	C	A	18: 61,076,247 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,294,673 (GRCm39)	Y579C	probably damaging	Het
Celf1	T	C	2: 90,840,821 (GRCm39)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,255,365 (GRCm39)	T178A	probably damaging	Het
Cryab	C	T	9: 50,664,748 (GRCm39)	P58S	probably benign	Het
Ctsf	G	T	19: 4,908,511 (GRCm39)	R290L	probably benign	Het
Ctsw	T	A	19: 5,515,865 (GRCm39)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,234,299 (GRCm39)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,200,294 (GRCm39)		probably null	Het
Etfb	A	G	7: 43,105,978 (GRCm39)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,519,338 (GRCm39)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,021,573 (GRCm39)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,837,642 (GRCm39)	I229N	probably damaging	Het
Fam162a	A	T	16: 35,870,215 (GRCm39)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,458,459 (GRCm39)	S44P	probably benign	Het
Fat3	T	G	9: 15,830,517 (GRCm39)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,043,610 (GRCm39)	K400E	probably benign	Het
Fndc7	A	G	3: 108,783,907 (GRCm39)	V234A	probably benign	Het
Gfi1	T	A	5: 107,865,634 (GRCm39)	H481L	probably damaging	Het
Gm5591	T	A	7: 38,218,647 (GRCm39)	H742L	probably benign	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
H2-DMb1	A	C	17: 34,376,324 (GRCm39)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,497,962 (GRCm39)	L317P	probably damaging	Het
Hes3	T	C	4: 152,371,380 (GRCm39)	T190A	probably benign	Het
Insr	C	T	8: 3,308,752 (GRCm39)	G95S	probably damaging	Het
Irf9	A	G	14: 55,846,414 (GRCm39)	I394V	probably benign	Het
Kat2b	T	C	17: 53,945,550 (GRCm39)	L323P	probably damaging	Het
Kdr	T	C	5: 76,133,071 (GRCm39)	D69G	probably benign	Het
Krt1c	C	T	15: 101,724,395 (GRCm39)	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,556,545 (GRCm39)	R61S	unknown	Het
Ldc1	A	G	4: 130,112,106 (GRCm39)	L192P	probably damaging	Het
Lrrc27	A	T	7: 138,822,540 (GRCm39)	K477M	probably damaging	Het
Lvrn	T	C	18: 47,015,365 (GRCm39)	V579A	probably benign	Het
Malrd1	A	T	2: 16,155,602 (GRCm39)	I2004L	unknown	Het
Mast4	A	T	13: 102,872,482 (GRCm39)	N2103K	probably benign	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Myo18a	T	A	11: 77,749,900 (GRCm39)		probably benign	Het
Or10d5	T	A	9: 39,861,933 (GRCm39)	M45L	probably benign	Het
Or52ab2	G	T	7: 102,969,998 (GRCm39)		probably benign	Het
Pcdhga10	A	G	18: 37,882,309 (GRCm39)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,747,343 (GRCm39)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,076,698 (GRCm39)	E309G	probably benign	Het
Psmb8	A	G	17: 34,418,617 (GRCm39)	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,862,299 (GRCm39)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,343,898 (GRCm39)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,564,013 (GRCm39)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,515,427 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,313,586 (GRCm39)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,106,842 (GRCm39)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,088,391 (GRCm39)	F79I	probably benign	Het
Slc2a6	G	T	2: 26,917,255 (GRCm39)	S45R	probably damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Sppl3	T	A	5: 115,220,349 (GRCm39)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,327,413 (GRCm39)	L330*	probably null	Het
Tbx5	A	T	5: 120,009,454 (GRCm39)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Unc45a	A	T	7: 79,975,403 (GRCm39)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,588,952 (GRCm39)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,822,195 (GRCm39)	L291P	probably benign	Het
Wwc2	A	T	8: 48,300,500 (GRCm39)	F988I	unknown	Het
Zfp947	G	A	17: 22,364,961 (GRCm39)	P238S	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
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'- GTCCCCTGATTCGGCAAATATC -3'
(R):5'- TGGTACTTGGGAGCAAAGC -3'

Sequencing Primer
(F):5'- CCCTGATTCGGCAAATATCTTTAAAC -3'
(R):5'- ACCCTCCCCTGTCGAAG -3'

Posted On

2019-05-13