Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Hivep1'

202845

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

039817-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42052021-42192537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42183786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 2447 (A2447V)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060148
AA Change: A2447V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: A2447V

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

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly 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
IGL01068:Hivep1	APN	13	42159984	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TATCCATGTGGTGACTGCCG -3'
(R):5'- TGGAGTCCCTGAATGTGTGC -3'

Sequencing Primer
(F):5'- ACTGCCGGCCTCACCTAC -3'
(R):5'- GCGTTGGCCAAAACCTG -3'

Posted On

2014-06-23