Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Hivep1'

529554

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42052021-42192537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42164284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2079 (C2079S)

Ref Sequence

ENSEMBL: ENSMUSP00000056147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060148
AA Change: C2079S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: C2079S

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

Meta Mutation Damage Score

0.9447

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222		probably null	Het
Baz2b	G	T	2: 59,924,890	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552		probably null	Het
Cox15	A	G	19: 43,736,789	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832		probably null	Het
Ephb2	T	C	4: 136,657,502	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381	Q122*	probably null	Het
Hoxb1	C	A	11: 96,366,987	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072		probably null	Het
Mmp15	A	G	8: 95,365,314	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052		probably null	Het
Plekha4	A	T	7: 45,540,886	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927	V165D	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
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
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'- TGTTGCAGAAACTAGGAATCTTCTC -3'
(R):5'- GGCTTATCCTCCGACTACAC -3'

Sequencing Primer
(F):5'- GTGCATAAAACCATTGGAGATTTGTG -3'
(R):5'- TTATCCTCCGACTACACAGCACTG -3'

Posted On

2018-08-01