Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Hivep1'

52529

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 essential (E-score: 0.591) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

42052021-42192537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42159984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1900 (P1900Q)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060148
AA Change: P1900Q

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

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: P1900Q

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

noncoding transcript
Transcript: ENSMUST00000222491

Predicted Effect

probably benign
Transcript: ENSMUST00000222854

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,504,175		probably benign	Het
Adgra1	A	G	7: 139,845,625	E18G	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,774,824	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,667,337	V853A	probably benign	Het
Bicral	T	C	17: 46,825,391	I298V	probably damaging	Het
Cad	A	G	5: 31,061,770		probably benign	Het
Chd9	A	T	8: 91,042,116	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,462,139	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,222,869	V604M	possibly damaging	Het
Ctcf	A	T	8: 105,681,485		probably benign	Het
Eif2ak2	A	G	17: 78,865,371	I295T	probably damaging	Het
Foxm1	G	A	6: 128,370,967	R284H	possibly damaging	Het
Gabra2	T	C	5: 70,962,072	I362M	probably benign	Het
Klhl25	G	T	7: 75,866,149	E268*	probably null	Het
Klk1b16	T	C	7: 44,140,678	L124P	probably damaging	Het
Ltf	A	T	9: 111,035,812		probably null	Het
Mpped2	T	A	2: 106,864,746	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,224,036		probably benign	Het
Mthfd1l	T	A	10: 4,028,428	S429R	probably damaging	Het
Myl2	G	A	5: 122,106,704	V146I	probably benign	Het
Myo10	T	A	15: 25,739,309	I527N	possibly damaging	Het
Ncoa3	T	C	2: 166,052,795	S333P	probably damaging	Het
Olfr1297	T	G	2: 111,621,340	T245P	probably damaging	Het
Olfr350	T	G	2: 36,850,270	S75A	probably damaging	Het
Oxct1	T	C	15: 4,053,764	F155S	probably damaging	Het
P4ha1	T	C	10: 59,339,335	V39A	probably damaging	Het
Padi6	G	T	4: 140,730,953	T514N	possibly damaging	Het
Pgm1	G	A	5: 64,107,796	V387I	probably damaging	Het
Ppt1	G	A	4: 122,844,007	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,928,900		probably benign	Het
Rpl26	T	C	11: 68,902,398	Y42H	probably benign	Het
Rundc1	A	G	11: 101,434,142	N558S	probably damaging	Het
Sema3e	T	G	5: 14,233,718		probably null	Het
Slc8a1	T	C	17: 81,388,942	I888V	probably benign	Het
Thsd7b	T	C	1: 129,596,146	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,086	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024	V119G	probably damaging	Het
Trpc1	T	C	9: 95,726,494	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,934,994	R453W	probably damaging	Het

Other mutations in Hivep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Hivep1	APN	13	42154649	missense	probably benign	0.00
IGL00572:Hivep1	APN	13	42158871	missense	probably benign	0.00
IGL00820:Hivep1	APN	13	42183818	missense	probably benign	0.29
IGL00846:Hivep1	APN	13	42167616	nonsense	probably null
IGL01431:Hivep1	APN	13	42158017	missense	probably damaging	0.96
IGL01664:Hivep1	APN	13	42159279	missense	probably benign	0.18
IGL01833:Hivep1	APN	13	42154988	nonsense	probably null
IGL02037:Hivep1	APN	13	42156077	missense	probably benign	0.00
IGL02375:Hivep1	APN	13	42156449	missense	probably benign	0.30
IGL02414:Hivep1	APN	13	42154909	missense	probably damaging	0.99
IGL02609:Hivep1	APN	13	42155654	missense	probably damaging	0.98
IGL02649:Hivep1	APN	13	42157311	missense	possibly damaging	0.69
IGL02654:Hivep1	APN	13	42157685	missense	probably damaging	0.97
IGL02977:Hivep1	APN	13	42155936	missense	possibly damaging	0.94
IGL03124:Hivep1	APN	13	42158904	missense	possibly damaging	0.66
IGL03050:Hivep1	UTSW	13	42156128	missense	probably benign	0.12
PIT4305001:Hivep1	UTSW	13	42181671	missense
R0067:Hivep1	UTSW	13	42158656	missense	probably benign	0.00
R0067:Hivep1	UTSW	13	42158656	missense	probably benign	0.00
R0078:Hivep1	UTSW	13	42156041	missense	probably damaging	1.00
R0194:Hivep1	UTSW	13	42155435	missense	probably damaging	1.00
R0195:Hivep1	UTSW	13	42156153	missense	probably benign
R0245:Hivep1	UTSW	13	42164290	missense	possibly damaging	0.93
R0348:Hivep1	UTSW	13	42158379	missense	possibly damaging	0.65
R0654:Hivep1	UTSW	13	42159756	missense	probably benign	0.16
R0655:Hivep1	UTSW	13	42167585	missense	probably damaging	1.00
R0717:Hivep1	UTSW	13	42154946	missense	possibly damaging	0.46
R1013:Hivep1	UTSW	13	42156962	missense	probably damaging	1.00
R1216:Hivep1	UTSW	13	42157521	missense	probably benign	0.03
R1256:Hivep1	UTSW	13	42181831	missense	probably damaging	1.00
R1435:Hivep1	UTSW	13	42158043	missense	probably damaging	1.00
R1437:Hivep1	UTSW	13	42157140	missense	probably benign	0.03
R1438:Hivep1	UTSW	13	42158120	missense	probably benign	0.00
R1672:Hivep1	UTSW	13	42160284	missense	probably damaging	0.96
R1733:Hivep1	UTSW	13	42157931	missense	probably damaging	1.00
R1762:Hivep1	UTSW	13	42183786	missense	possibly damaging	0.80
R1786:Hivep1	UTSW	13	42183786	missense	possibly damaging	0.80
R1909:Hivep1	UTSW	13	42155646	missense	probably benign	0.38
R1993:Hivep1	UTSW	13	42157493	missense	probably benign	0.00
R2004:Hivep1	UTSW	13	42160149	missense	possibly damaging	0.47
R2061:Hivep1	UTSW	13	42160124	missense	possibly damaging	0.80
R2069:Hivep1	UTSW	13	42183786	missense	possibly damaging	0.80
R2075:Hivep1	UTSW	13	42156318	missense	probably damaging	0.98
R2076:Hivep1	UTSW	13	42164393	critical splice donor site	probably null
R2085:Hivep1	UTSW	13	42183750	missense	probably benign	0.34
R3701:Hivep1	UTSW	13	42157727	missense	probably benign	0.03
R3702:Hivep1	UTSW	13	42157727	missense	probably benign	0.03
R3716:Hivep1	UTSW	13	42158495	missense	probably damaging	1.00
R3718:Hivep1	UTSW	13	42158495	missense	probably damaging	1.00
R3719:Hivep1	UTSW	13	42157727	missense	probably benign	0.03
R3720:Hivep1	UTSW	13	42158601	missense	probably benign	0.01
R3820:Hivep1	UTSW	13	42184311	missense	possibly damaging	0.46
R3822:Hivep1	UTSW	13	42184311	missense	possibly damaging	0.46
R3842:Hivep1	UTSW	13	42157727	missense	probably benign	0.03
R4379:Hivep1	UTSW	13	42155430	missense	probably damaging	1.00
R4525:Hivep1	UTSW	13	42155813	missense	probably benign
R4587:Hivep1	UTSW	13	42156228	missense	probably benign	0.00
R4604:Hivep1	UTSW	13	42159749	missense	probably benign	0.08
R4686:Hivep1	UTSW	13	42155850	missense	probably benign	0.00
R4725:Hivep1	UTSW	13	42163411	missense	probably benign	0.19
R4924:Hivep1	UTSW	13	42158316	missense	probably benign	0.20
R5009:Hivep1	UTSW	13	42158753	missense	probably benign	0.06
R5320:Hivep1	UTSW	13	42159639	missense	probably damaging	1.00
R5385:Hivep1	UTSW	13	42164395	splice site	probably null
R5498:Hivep1	UTSW	13	42123158	critical splice acceptor site	probably null
R5521:Hivep1	UTSW	13	42158328	missense	probably damaging	1.00
R5529:Hivep1	UTSW	13	42156650	missense	possibly damaging	0.81
R5584:Hivep1	UTSW	13	42160117	missense	probably benign
R5635:Hivep1	UTSW	13	42160127	missense	probably benign	0.16
R5636:Hivep1	UTSW	13	42163456	missense	possibly damaging	0.92
R5886:Hivep1	UTSW	13	42156612	missense	probably damaging	1.00
R5895:Hivep1	UTSW	13	42157218	missense	possibly damaging	0.95
R5981:Hivep1	UTSW	13	42160188	missense	probably damaging	1.00
R6012:Hivep1	UTSW	13	42184458	missense	possibly damaging	0.50
R6033:Hivep1	UTSW	13	42157107	missense	probably benign	0.20
R6033:Hivep1	UTSW	13	42157107	missense	probably benign	0.20
R6037:Hivep1	UTSW	13	42157940	missense	probably damaging	1.00
R6037:Hivep1	UTSW	13	42157940	missense	probably damaging	1.00
R6241:Hivep1	UTSW	13	42158370	missense	probably benign	0.01
R6247:Hivep1	UTSW	13	42157490	missense	probably benign
R6343:Hivep1	UTSW	13	42159671	nonsense	probably null
R6631:Hivep1	UTSW	13	42156480	missense	probably damaging	0.96
R6720:Hivep1	UTSW	13	42164284	missense	probably damaging	1.00
R6767:Hivep1	UTSW	13	42154727	missense	probably damaging	0.99
R6797:Hivep1	UTSW	13	42157081	missense	probably benign	0.00
R6800:Hivep1	UTSW	13	42157376	missense	probably damaging	1.00
R6854:Hivep1	UTSW	13	42156507	missense	probably damaging	1.00
R6919:Hivep1	UTSW	13	42183452	missense	probably benign	0.00
R6993:Hivep1	UTSW	13	42158714	missense	possibly damaging	0.94
R7104:Hivep1	UTSW	13	42157338	missense	probably benign	0.26
R7139:Hivep1	UTSW	13	42159954	missense	probably benign	0.28
R7186:Hivep1	UTSW	13	42156338	missense	probably benign	0.01
R7227:Hivep1	UTSW	13	42156911	missense	probably benign	0.02
R7263:Hivep1	UTSW	13	42158192	missense	possibly damaging	0.50
R7438:Hivep1	UTSW	13	42154911	missense	probably damaging	0.99
R7490:Hivep1	UTSW	13	42157650	missense	probably damaging	1.00
R7583:Hivep1	UTSW	13	42164240	missense	probably damaging	1.00
R7708:Hivep1	UTSW	13	42164277	nonsense	probably null
R7763:Hivep1	UTSW	13	42159461	missense	probably benign	0.12
R7840:Hivep1	UTSW	13	42155352	missense	probably benign
R7864:Hivep1	UTSW	13	42158814	missense	probably benign	0.02
R7913:Hivep1	UTSW	13	42156366	missense	probably benign	0.00
R7934:Hivep1	UTSW	13	42154698	missense	probably benign	0.17
R8017:Hivep1	UTSW	13	42167622	missense
R8019:Hivep1	UTSW	13	42167622	missense
R8312:Hivep1	UTSW	13	42155177	missense	possibly damaging	0.80
R8336:Hivep1	UTSW	13	42155929	missense	probably benign	0.00
R8415:Hivep1	UTSW	13	42155429	missense	probably benign	0.20
R8477:Hivep1	UTSW	13	42184220	missense	probably benign	0.00
R8868:Hivep1	UTSW	13	42158931	missense	possibly damaging	0.82
R9015:Hivep1	UTSW	13	42158373	missense	probably benign	0.34
R9185:Hivep1	UTSW	13	42184499	missense	possibly damaging	0.86
R9225:Hivep1	UTSW	13	42183708	missense	probably damaging	1.00
R9330:Hivep1	UTSW	13	42164237	missense	probably damaging	1.00
R9364:Hivep1	UTSW	13	42154775	missense	possibly damaging	0.63
R9377:Hivep1	UTSW	13	42181927	missense	probably benign	0.13
R9422:Hivep1	UTSW	13	42159737	missense	probably benign	0.06
R9451:Hivep1	UTSW	13	42183776	missense	probably benign	0.00
R9480:Hivep1	UTSW	13	42183582	missense	probably damaging	1.00
R9490:Hivep1	UTSW	13	42158042	missense	probably damaging	0.96
R9502:Hivep1	UTSW	13	42169303	missense
R9554:Hivep1	UTSW	13	42154775	missense	possibly damaging	0.63
X0060:Hivep1	UTSW	13	42154985	missense	probably benign	0.07
X0067:Hivep1	UTSW	13	42156717	missense	probably damaging	0.98
Z1177:Hivep1	UTSW	13	42159981	missense	possibly damaging	0.85

Posted On

2013-06-21