Mutagenetix > Incidental Mutation

Incidental Mutation 'R3720:Hivep1'

258865

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

040711-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R3720 (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 42158601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1439 (T1439I)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060148
AA Change: T1439I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: T1439I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

93% (40/43)

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
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Atp2c1	A	T	9: 105,422,976	M708K	probably damaging	Het
C9	A	G	15: 6,483,119	T241A	possibly damaging	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cntnap5c	T	C	17: 58,330,202	S1025P	probably benign	Het
Col8a1	T	C	16: 57,626,916	M744V	unknown	Het
Cstf3	A	G	2: 104,653,086		probably benign	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Glt6d1	ACCC	ACCCC	2: 25,795,167		probably null	Het
Gm10717	A	G	9: 3,025,532	Y39C	probably benign	Het
Iqgap2	T	C	13: 95,668,528		probably null	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kif1c	T	C	11: 70,703,771	F86L	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ldb1	C	T	19: 46,044,892		probably benign	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Med23	T	C	10: 24,891,120	L369S	probably damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myo1b	G	T	1: 51,776,346	H614N	possibly damaging	Het
Neurl1b	C	T	17: 26,414,975	T4M	probably damaging	Het
Olfr1095	T	C	2: 86,851,591	T36A	probably benign	Het
Olfr129	T	C	17: 38,055,368	Y66C	probably damaging	Het
Polg	G	A	7: 79,456,791	Q163*	probably null	Het
Pramef8	A	G	4: 143,419,379	T473A	probably benign	Het
Sdk2	G	A	11: 113,800,244	P1835L	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Snx31	T	C	15: 36,523,558		probably null	Het
Speg	A	T	1: 75,426,782	H2590L	probably damaging	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Swap70	A	G	7: 110,270,047	E349G	probably damaging	Het
Sybu	A	G	15: 44,672,632	V766A	possibly damaging	Het
Tns3	G	A	11: 8,492,999	R455W	probably damaging	Het
Tnxb	T	A	17: 34,712,964	V2157E	possibly damaging	Het
Trak2	A	T	1: 58,946,245		probably null	Het
Trav18	C	T	14: 53,831,617	R39C	possibly damaging	Het
Uroc1	G	A	6: 90,346,355	V352M	probably damaging	Het
Zfp106	A	C	2: 120,534,599	I442M	probably benign	Het
Zfp935	G	A	13: 62,455,032	Q98*	probably null	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
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
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'- GTGCCAGCACTTGTTGAATC -3'
(R):5'- TGCTGCATCTGGTTTGCCAC -3'

Sequencing Primer
(F):5'- GCACTTGTTGAATCACAGCC -3'
(R):5'- GTTTGCCACCCTGTGCAGAC -3'

Posted On

2015-01-23