Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Hivep1'

84131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hivep1

Ensembl Gene

ENSMUSG00000021366

Gene Name

human immunodeficiency virus type I enhancer binding protein 1

Synonyms

Cryabp1, alphaA-CRYBP1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

42052021-42192537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42158017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1244 (K1244N)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060148
AA Change: K1244N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: K1244N

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395 (GRCm38)		probably benign	Het
Adamts7	A	G	9: 90,207,785 (GRCm38)	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420 (GRCm38)	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002 (GRCm38)		probably benign	Het
Cdh3	T	C	8: 106,547,669 (GRCm38)	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831 (GRCm38)	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078 (GRCm38)		probably null	Het
Ecel1	C	T	1: 87,151,504 (GRCm38)	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839 (GRCm38)	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909 (GRCm38)	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665 (GRCm38)		probably benign	Het
Got1	T	A	19: 43,503,049 (GRCm38)	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538 (GRCm38)	V302A	probably benign	Het
Idh3b	T	C	2: 130,281,897 (GRCm38)	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457 (GRCm38)		probably benign	Het
Mybl1	G	T	1: 9,672,647 (GRCm38)	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358 (GRCm38)	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401 (GRCm38)	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839 (GRCm38)	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587 (GRCm38)	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164 (GRCm38)	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916 (GRCm38)		probably benign	Het
Retreg2	T	A	1: 75,145,105 (GRCm38)		probably null	Het
Ripply3	G	A	16: 94,328,543 (GRCm38)	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111 (GRCm38)		probably benign	Het
Rrm1	C	A	7: 102,457,552 (GRCm38)		probably benign	Het
Rsad2	T	A	12: 26,448,667 (GRCm38)	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348 (GRCm38)		probably benign	Het
Schip1	A	T	3: 68,617,777 (GRCm38)	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263 (GRCm38)	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091 (GRCm38)	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751 (GRCm38)	S220*	probably null	Het
Stab1	C	A	14: 31,148,995 (GRCm38)	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915 (GRCm38)		probably benign	Het
Tmc7	T	G	7: 118,552,762 (GRCm38)	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400 (GRCm38)	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223 (GRCm38)	T1591K	possibly damaging	Het

Other mutations in Hivep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Hivep1	APN	13	42,154,649 (GRCm38)	missense	probably benign	0.00
IGL00572:Hivep1	APN	13	42,158,871 (GRCm38)	missense	probably benign	0.00
IGL00820:Hivep1	APN	13	42,183,818 (GRCm38)	missense	probably benign	0.29
IGL00846:Hivep1	APN	13	42,167,616 (GRCm38)	nonsense	probably null
IGL01068:Hivep1	APN	13	42,159,984 (GRCm38)	missense	probably benign	0.00
IGL01664:Hivep1	APN	13	42,159,279 (GRCm38)	missense	probably benign	0.18
IGL01833:Hivep1	APN	13	42,154,988 (GRCm38)	nonsense	probably null
IGL02037:Hivep1	APN	13	42,156,077 (GRCm38)	missense	probably benign	0.00
IGL02375:Hivep1	APN	13	42,156,449 (GRCm38)	missense	probably benign	0.30
IGL02414:Hivep1	APN	13	42,154,909 (GRCm38)	missense	probably damaging	0.99
IGL02609:Hivep1	APN	13	42,155,654 (GRCm38)	missense	probably damaging	0.98
IGL02649:Hivep1	APN	13	42,157,311 (GRCm38)	missense	possibly damaging	0.69
IGL02654:Hivep1	APN	13	42,157,685 (GRCm38)	missense	probably damaging	0.97
IGL02977:Hivep1	APN	13	42,155,936 (GRCm38)	missense	possibly damaging	0.94
IGL03124:Hivep1	APN	13	42,158,904 (GRCm38)	missense	possibly damaging	0.66
IGL03050:Hivep1	UTSW	13	42,156,128 (GRCm38)	missense	probably benign	0.12
PIT4305001:Hivep1	UTSW	13	42,181,671 (GRCm38)	missense
R0067:Hivep1	UTSW	13	42,158,656 (GRCm38)	missense	probably benign	0.00
R0067:Hivep1	UTSW	13	42,158,656 (GRCm38)	missense	probably benign	0.00
R0078:Hivep1	UTSW	13	42,156,041 (GRCm38)	missense	probably damaging	1.00
R0194:Hivep1	UTSW	13	42,155,435 (GRCm38)	missense	probably damaging	1.00
R0195:Hivep1	UTSW	13	42,156,153 (GRCm38)	missense	probably benign
R0245:Hivep1	UTSW	13	42,164,290 (GRCm38)	missense	possibly damaging	0.93
R0348:Hivep1	UTSW	13	42,158,379 (GRCm38)	missense	possibly damaging	0.65
R0654:Hivep1	UTSW	13	42,159,756 (GRCm38)	missense	probably benign	0.16
R0655:Hivep1	UTSW	13	42,167,585 (GRCm38)	missense	probably damaging	1.00
R0717:Hivep1	UTSW	13	42,154,946 (GRCm38)	missense	possibly damaging	0.46
R1013:Hivep1	UTSW	13	42,156,962 (GRCm38)	missense	probably damaging	1.00
R1216:Hivep1	UTSW	13	42,157,521 (GRCm38)	missense	probably benign	0.03
R1256:Hivep1	UTSW	13	42,181,831 (GRCm38)	missense	probably damaging	1.00
R1435:Hivep1	UTSW	13	42,158,043 (GRCm38)	missense	probably damaging	1.00
R1437:Hivep1	UTSW	13	42,157,140 (GRCm38)	missense	probably benign	0.03
R1438:Hivep1	UTSW	13	42,158,120 (GRCm38)	missense	probably benign	0.00
R1672:Hivep1	UTSW	13	42,160,284 (GRCm38)	missense	probably damaging	0.96
R1733:Hivep1	UTSW	13	42,157,931 (GRCm38)	missense	probably damaging	1.00
R1762:Hivep1	UTSW	13	42,183,786 (GRCm38)	missense	possibly damaging	0.80
R1786:Hivep1	UTSW	13	42,183,786 (GRCm38)	missense	possibly damaging	0.80
R1909:Hivep1	UTSW	13	42,155,646 (GRCm38)	missense	probably benign	0.38
R1993:Hivep1	UTSW	13	42,157,493 (GRCm38)	missense	probably benign	0.00
R2004:Hivep1	UTSW	13	42,160,149 (GRCm38)	missense	possibly damaging	0.47
R2061:Hivep1	UTSW	13	42,160,124 (GRCm38)	missense	possibly damaging	0.80
R2069:Hivep1	UTSW	13	42,183,786 (GRCm38)	missense	possibly damaging	0.80
R2075:Hivep1	UTSW	13	42,156,318 (GRCm38)	missense	probably damaging	0.98
R2076:Hivep1	UTSW	13	42,164,393 (GRCm38)	critical splice donor site	probably null
R2085:Hivep1	UTSW	13	42,183,750 (GRCm38)	missense	probably benign	0.34
R3701:Hivep1	UTSW	13	42,157,727 (GRCm38)	missense	probably benign	0.03
R3702:Hivep1	UTSW	13	42,157,727 (GRCm38)	missense	probably benign	0.03
R3716:Hivep1	UTSW	13	42,158,495 (GRCm38)	missense	probably damaging	1.00
R3718:Hivep1	UTSW	13	42,158,495 (GRCm38)	missense	probably damaging	1.00
R3719:Hivep1	UTSW	13	42,157,727 (GRCm38)	missense	probably benign	0.03
R3720:Hivep1	UTSW	13	42,158,601 (GRCm38)	missense	probably benign	0.01
R3820:Hivep1	UTSW	13	42,184,311 (GRCm38)	missense	possibly damaging	0.46
R3822:Hivep1	UTSW	13	42,184,311 (GRCm38)	missense	possibly damaging	0.46
R3842:Hivep1	UTSW	13	42,157,727 (GRCm38)	missense	probably benign	0.03
R4379:Hivep1	UTSW	13	42,155,430 (GRCm38)	missense	probably damaging	1.00
R4525:Hivep1	UTSW	13	42,155,813 (GRCm38)	missense	probably benign
R4587:Hivep1	UTSW	13	42,156,228 (GRCm38)	missense	probably benign	0.00
R4604:Hivep1	UTSW	13	42,159,749 (GRCm38)	missense	probably benign	0.08
R4686:Hivep1	UTSW	13	42,155,850 (GRCm38)	missense	probably benign	0.00
R4725:Hivep1	UTSW	13	42,163,411 (GRCm38)	missense	probably benign	0.19
R4924:Hivep1	UTSW	13	42,158,316 (GRCm38)	missense	probably benign	0.20
R5009:Hivep1	UTSW	13	42,158,753 (GRCm38)	missense	probably benign	0.06
R5320:Hivep1	UTSW	13	42,159,639 (GRCm38)	missense	probably damaging	1.00
R5385:Hivep1	UTSW	13	42,164,395 (GRCm38)	splice site	probably null
R5498:Hivep1	UTSW	13	42,123,158 (GRCm38)	critical splice acceptor site	probably null
R5521:Hivep1	UTSW	13	42,158,328 (GRCm38)	missense	probably damaging	1.00
R5529:Hivep1	UTSW	13	42,156,650 (GRCm38)	missense	possibly damaging	0.81
R5584:Hivep1	UTSW	13	42,160,117 (GRCm38)	missense	probably benign
R5635:Hivep1	UTSW	13	42,160,127 (GRCm38)	missense	probably benign	0.16
R5636:Hivep1	UTSW	13	42,163,456 (GRCm38)	missense	possibly damaging	0.92
R5886:Hivep1	UTSW	13	42,156,612 (GRCm38)	missense	probably damaging	1.00
R5895:Hivep1	UTSW	13	42,157,218 (GRCm38)	missense	possibly damaging	0.95
R5981:Hivep1	UTSW	13	42,160,188 (GRCm38)	missense	probably damaging	1.00
R6012:Hivep1	UTSW	13	42,184,458 (GRCm38)	missense	possibly damaging	0.50
R6033:Hivep1	UTSW	13	42,157,107 (GRCm38)	missense	probably benign	0.20
R6033:Hivep1	UTSW	13	42,157,107 (GRCm38)	missense	probably benign	0.20
R6037:Hivep1	UTSW	13	42,157,940 (GRCm38)	missense	probably damaging	1.00
R6037:Hivep1	UTSW	13	42,157,940 (GRCm38)	missense	probably damaging	1.00
R6241:Hivep1	UTSW	13	42,158,370 (GRCm38)	missense	probably benign	0.01
R6247:Hivep1	UTSW	13	42,157,490 (GRCm38)	missense	probably benign
R6343:Hivep1	UTSW	13	42,159,671 (GRCm38)	nonsense	probably null
R6631:Hivep1	UTSW	13	42,156,480 (GRCm38)	missense	probably damaging	0.96
R6720:Hivep1	UTSW	13	42,164,284 (GRCm38)	missense	probably damaging	1.00
R6767:Hivep1	UTSW	13	42,154,727 (GRCm38)	missense	probably damaging	0.99
R6797:Hivep1	UTSW	13	42,157,081 (GRCm38)	missense	probably benign	0.00
R6800:Hivep1	UTSW	13	42,157,376 (GRCm38)	missense	probably damaging	1.00
R6854:Hivep1	UTSW	13	42,156,507 (GRCm38)	missense	probably damaging	1.00
R6919:Hivep1	UTSW	13	42,183,452 (GRCm38)	missense	probably benign	0.00
R6993:Hivep1	UTSW	13	42,158,714 (GRCm38)	missense	possibly damaging	0.94
R7104:Hivep1	UTSW	13	42,157,338 (GRCm38)	missense	probably benign	0.26
R7139:Hivep1	UTSW	13	42,159,954 (GRCm38)	missense	probably benign	0.28
R7186:Hivep1	UTSW	13	42,156,338 (GRCm38)	missense	probably benign	0.01
R7227:Hivep1	UTSW	13	42,156,911 (GRCm38)	missense	probably benign	0.02
R7263:Hivep1	UTSW	13	42,158,192 (GRCm38)	missense	possibly damaging	0.50
R7438:Hivep1	UTSW	13	42,154,911 (GRCm38)	missense	probably damaging	0.99
R7490:Hivep1	UTSW	13	42,157,650 (GRCm38)	missense	probably damaging	1.00
R7583:Hivep1	UTSW	13	42,164,240 (GRCm38)	missense	probably damaging	1.00
R7708:Hivep1	UTSW	13	42,164,277 (GRCm38)	nonsense	probably null
R7763:Hivep1	UTSW	13	42,159,461 (GRCm38)	missense	probably benign	0.12
R7840:Hivep1	UTSW	13	42,155,352 (GRCm38)	missense	probably benign
R7864:Hivep1	UTSW	13	42,158,814 (GRCm38)	missense	probably benign	0.02
R7913:Hivep1	UTSW	13	42,156,366 (GRCm38)	missense	probably benign	0.00
R7934:Hivep1	UTSW	13	42,154,698 (GRCm38)	missense	probably benign	0.17
R8017:Hivep1	UTSW	13	42,167,622 (GRCm38)	missense
R8019:Hivep1	UTSW	13	42,167,622 (GRCm38)	missense
R8312:Hivep1	UTSW	13	42,155,177 (GRCm38)	missense	possibly damaging	0.80
R8336:Hivep1	UTSW	13	42,155,929 (GRCm38)	missense	probably benign	0.00
R8415:Hivep1	UTSW	13	42,155,429 (GRCm38)	missense	probably benign	0.20
R8477:Hivep1	UTSW	13	42,184,220 (GRCm38)	missense	probably benign	0.00
R8868:Hivep1	UTSW	13	42,158,931 (GRCm38)	missense	possibly damaging	0.82
R9015:Hivep1	UTSW	13	42,158,373 (GRCm38)	missense	probably benign	0.34
R9185:Hivep1	UTSW	13	42,184,499 (GRCm38)	missense	possibly damaging	0.86
R9225:Hivep1	UTSW	13	42,183,708 (GRCm38)	missense	probably damaging	1.00
R9330:Hivep1	UTSW	13	42,164,237 (GRCm38)	missense	probably damaging	1.00
R9364:Hivep1	UTSW	13	42,154,775 (GRCm38)	missense	possibly damaging	0.63
R9377:Hivep1	UTSW	13	42,181,927 (GRCm38)	missense	probably benign	0.13
R9422:Hivep1	UTSW	13	42,159,737 (GRCm38)	missense	probably benign	0.06
R9451:Hivep1	UTSW	13	42,183,776 (GRCm38)	missense	probably benign	0.00
R9480:Hivep1	UTSW	13	42,183,582 (GRCm38)	missense	probably damaging	1.00
R9490:Hivep1	UTSW	13	42,158,042 (GRCm38)	missense	probably damaging	0.96
R9502:Hivep1	UTSW	13	42,169,303 (GRCm38)	missense
R9554:Hivep1	UTSW	13	42,154,775 (GRCm38)	missense	possibly damaging	0.63
X0060:Hivep1	UTSW	13	42,154,985 (GRCm38)	missense	probably benign	0.07
X0067:Hivep1	UTSW	13	42,156,717 (GRCm38)	missense	probably damaging	0.98
Z1177:Hivep1	UTSW	13	42,159,981 (GRCm38)	missense	possibly damaging	0.85

Posted On

2013-11-11