Mutagenetix > Incidental Mutation

Incidental Mutation 'R6241:Hivep1'

505252

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

044402-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R6241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42205304-42338504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42311846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1362 (L1362P)

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: L1362P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: L1362P

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,788 (GRCm39)	I385V	probably benign	Het
Ablim2	A	G	5: 36,032,241 (GRCm39)	D622G	probably damaging	Het
Acsbg1	A	T	9: 54,549,946 (GRCm39)	S86T	probably damaging	Het
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Ank2	A	C	3: 126,846,397 (GRCm39)	D199E	probably damaging	Het
Art2a	T	A	7: 101,204,452 (GRCm39)	M29L	probably benign	Het
Bbs2	C	A	8: 94,824,863 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,815,074 (GRCm39)	I1402N	probably damaging	Het
C1qtnf9	C	A	14: 61,017,069 (GRCm39)	P200T	possibly damaging	Het
Ciita	T	C	16: 10,329,767 (GRCm39)	Y684H	probably damaging	Het
Dennd1c	T	C	17: 57,373,272 (GRCm39)	N734D	probably benign	Het
Depdc1b	A	T	13: 108,460,653 (GRCm39)	I88F	possibly damaging	Het
Dsg2	A	G	18: 20,723,274 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,394,761 (GRCm39)	T154A	probably damaging	Het
Gmeb1	A	T	4: 131,969,688 (GRCm39)	V95D	possibly damaging	Het
Gmeb1	A	G	4: 131,973,324 (GRCm39)	S62P	probably benign	Het
Golga5	T	A	12: 102,438,732 (GRCm39)	V149D	probably damaging	Het
H1f7	A	C	15: 98,154,652 (GRCm39)	S166A	unknown	Het
Ift81	T	C	5: 122,740,414 (GRCm39)	M205V	probably benign	Het
Iglv3	T	A	16: 19,059,968 (GRCm39)	Q120L	possibly damaging	Het
Ints9	C	T	14: 65,217,659 (GRCm39)	T62I	possibly damaging	Het
Itga1	G	T	13: 115,096,673 (GRCm39)		probably null	Het
Katnip	C	T	7: 125,472,006 (GRCm39)	H1532Y	probably benign	Het
Krt77	A	C	15: 101,773,988 (GRCm39)	I222S	probably damaging	Het
Mrps25	A	G	6: 92,160,819 (GRCm39)		probably null	Het
Mrps27	A	G	13: 99,548,754 (GRCm39)	T297A	probably benign	Het
Mup15	A	T	4: 61,357,850 (GRCm39)	L7Q	unknown	Het
Naip1	T	A	13: 100,562,169 (GRCm39)	I999F	probably damaging	Het
Ndst1	A	G	18: 60,836,901 (GRCm39)	F387L	probably damaging	Het
Nudt9	T	C	5: 104,202,151 (GRCm39)	S71P	probably damaging	Het
Or14c41	C	A	7: 86,235,245 (GRCm39)	A254D	probably benign	Het
Or2b4	A	G	17: 38,116,432 (GRCm39)	Y132C	probably damaging	Het
Or5al1	T	G	2: 85,990,380 (GRCm39)	E111D	probably damaging	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pcolce	A	C	5: 137,603,496 (GRCm39)	S446A	probably benign	Het
Per2	T	A	1: 91,349,251 (GRCm39)	N1040I	probably damaging	Het
Pla2g6	A	T	15: 79,188,592 (GRCm39)	S422T	probably benign	Het
Pla2r1	G	T	2: 60,332,543 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,752,094 (GRCm39)	V100A	possibly damaging	Het
Polr1d	C	T	5: 147,015,533 (GRCm39)	T72M	probably benign	Het
Psd3	A	C	8: 68,270,791 (GRCm39)		probably benign	Het
Radil	T	C	5: 142,480,697 (GRCm39)	E586G	probably damaging	Het
Rnf150	A	G	8: 83,591,093 (GRCm39)	N152S	possibly damaging	Het
Serpina1b	T	A	12: 103,695,515 (GRCm39)		probably null	Het
Setd3	C	T	12: 108,124,114 (GRCm39)	E192K	probably benign	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Taok3	T	A	5: 117,410,262 (GRCm39)	M818K	probably benign	Het
Tmem131l	T	C	3: 83,829,471 (GRCm39)	N1062S	probably benign	Het
Tmx4	C	T	2: 134,481,425 (GRCm39)		probably benign	Het
Traip	G	A	9: 107,845,933 (GRCm39)	C342Y	probably benign	Het
Traj9	G	T	14: 54,446,890 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vegfc	T	C	8: 54,634,289 (GRCm39)	S323P	probably benign	Het
Vinac1	T	C	2: 128,879,301 (GRCm39)	D875G	possibly damaging	Het

Other mutations in Hivep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Hivep1	APN	13	42,308,125 (GRCm39)	missense	probably benign	0.00
IGL00572:Hivep1	APN	13	42,312,347 (GRCm39)	missense	probably benign	0.00
IGL00820:Hivep1	APN	13	42,337,294 (GRCm39)	missense	probably benign	0.29
IGL00846:Hivep1	APN	13	42,321,092 (GRCm39)	nonsense	probably null
IGL01068:Hivep1	APN	13	42,313,460 (GRCm39)	missense	probably benign	0.00
IGL01431:Hivep1	APN	13	42,311,493 (GRCm39)	missense	probably damaging	0.96
IGL01664:Hivep1	APN	13	42,312,755 (GRCm39)	missense	probably benign	0.18
IGL01833:Hivep1	APN	13	42,308,464 (GRCm39)	nonsense	probably null
IGL02037:Hivep1	APN	13	42,309,553 (GRCm39)	missense	probably benign	0.00
IGL02375:Hivep1	APN	13	42,309,925 (GRCm39)	missense	probably benign	0.30
IGL02414:Hivep1	APN	13	42,308,385 (GRCm39)	missense	probably damaging	0.99
IGL02609:Hivep1	APN	13	42,309,130 (GRCm39)	missense	probably damaging	0.98
IGL02649:Hivep1	APN	13	42,310,787 (GRCm39)	missense	possibly damaging	0.69
IGL02654:Hivep1	APN	13	42,311,161 (GRCm39)	missense	probably damaging	0.97
IGL02977:Hivep1	APN	13	42,309,412 (GRCm39)	missense	possibly damaging	0.94
IGL03124:Hivep1	APN	13	42,312,380 (GRCm39)	missense	possibly damaging	0.66
IGL03050:Hivep1	UTSW	13	42,309,604 (GRCm39)	missense	probably benign	0.12
PIT4305001:Hivep1	UTSW	13	42,335,147 (GRCm39)	missense
R0067:Hivep1	UTSW	13	42,312,132 (GRCm39)	missense	probably benign	0.00
R0067:Hivep1	UTSW	13	42,312,132 (GRCm39)	missense	probably benign	0.00
R0078:Hivep1	UTSW	13	42,309,517 (GRCm39)	missense	probably damaging	1.00
R0194:Hivep1	UTSW	13	42,308,911 (GRCm39)	missense	probably damaging	1.00
R0195:Hivep1	UTSW	13	42,309,629 (GRCm39)	missense	probably benign
R0245:Hivep1	UTSW	13	42,317,766 (GRCm39)	missense	possibly damaging	0.93
R0348:Hivep1	UTSW	13	42,311,855 (GRCm39)	missense	possibly damaging	0.65
R0654:Hivep1	UTSW	13	42,313,232 (GRCm39)	missense	probably benign	0.16
R0655:Hivep1	UTSW	13	42,321,061 (GRCm39)	missense	probably damaging	1.00
R0717:Hivep1	UTSW	13	42,308,422 (GRCm39)	missense	possibly damaging	0.46
R1013:Hivep1	UTSW	13	42,310,438 (GRCm39)	missense	probably damaging	1.00
R1216:Hivep1	UTSW	13	42,310,997 (GRCm39)	missense	probably benign	0.03
R1256:Hivep1	UTSW	13	42,335,307 (GRCm39)	missense	probably damaging	1.00
R1435:Hivep1	UTSW	13	42,311,519 (GRCm39)	missense	probably damaging	1.00
R1437:Hivep1	UTSW	13	42,310,616 (GRCm39)	missense	probably benign	0.03
R1438:Hivep1	UTSW	13	42,311,596 (GRCm39)	missense	probably benign	0.00
R1672:Hivep1	UTSW	13	42,313,760 (GRCm39)	missense	probably damaging	0.96
R1733:Hivep1	UTSW	13	42,311,407 (GRCm39)	missense	probably damaging	1.00
R1762:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R1786:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R1909:Hivep1	UTSW	13	42,309,122 (GRCm39)	missense	probably benign	0.38
R1993:Hivep1	UTSW	13	42,310,969 (GRCm39)	missense	probably benign	0.00
R2004:Hivep1	UTSW	13	42,313,625 (GRCm39)	missense	possibly damaging	0.47
R2061:Hivep1	UTSW	13	42,313,600 (GRCm39)	missense	possibly damaging	0.80
R2069:Hivep1	UTSW	13	42,337,262 (GRCm39)	missense	possibly damaging	0.80
R2075:Hivep1	UTSW	13	42,309,794 (GRCm39)	missense	probably damaging	0.98
R2076:Hivep1	UTSW	13	42,317,869 (GRCm39)	critical splice donor site	probably null
R2085:Hivep1	UTSW	13	42,337,226 (GRCm39)	missense	probably benign	0.34
R3701:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3702:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3716:Hivep1	UTSW	13	42,311,971 (GRCm39)	missense	probably damaging	1.00
R3718:Hivep1	UTSW	13	42,311,971 (GRCm39)	missense	probably damaging	1.00
R3719:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R3720:Hivep1	UTSW	13	42,312,077 (GRCm39)	missense	probably benign	0.01
R3820:Hivep1	UTSW	13	42,337,787 (GRCm39)	missense	possibly damaging	0.46
R3822:Hivep1	UTSW	13	42,337,787 (GRCm39)	missense	possibly damaging	0.46
R3842:Hivep1	UTSW	13	42,311,203 (GRCm39)	missense	probably benign	0.03
R4379:Hivep1	UTSW	13	42,308,906 (GRCm39)	missense	probably damaging	1.00
R4525:Hivep1	UTSW	13	42,309,289 (GRCm39)	missense	probably benign
R4587:Hivep1	UTSW	13	42,309,704 (GRCm39)	missense	probably benign	0.00
R4604:Hivep1	UTSW	13	42,313,225 (GRCm39)	missense	probably benign	0.08
R4686:Hivep1	UTSW	13	42,309,326 (GRCm39)	missense	probably benign	0.00
R4725:Hivep1	UTSW	13	42,316,887 (GRCm39)	missense	probably benign	0.19
R4924:Hivep1	UTSW	13	42,311,792 (GRCm39)	missense	probably benign	0.20
R5009:Hivep1	UTSW	13	42,312,229 (GRCm39)	missense	probably benign	0.06
R5320:Hivep1	UTSW	13	42,313,115 (GRCm39)	missense	probably damaging	1.00
R5385:Hivep1	UTSW	13	42,317,871 (GRCm39)	splice site	probably null
R5498:Hivep1	UTSW	13	42,276,634 (GRCm39)	critical splice acceptor site	probably null
R5521:Hivep1	UTSW	13	42,311,804 (GRCm39)	missense	probably damaging	1.00
R5529:Hivep1	UTSW	13	42,310,126 (GRCm39)	missense	possibly damaging	0.81
R5584:Hivep1	UTSW	13	42,313,593 (GRCm39)	missense	probably benign
R5635:Hivep1	UTSW	13	42,313,603 (GRCm39)	missense	probably benign	0.16
R5636:Hivep1	UTSW	13	42,316,932 (GRCm39)	missense	possibly damaging	0.92
R5886:Hivep1	UTSW	13	42,310,088 (GRCm39)	missense	probably damaging	1.00
R5895:Hivep1	UTSW	13	42,310,694 (GRCm39)	missense	possibly damaging	0.95
R5981:Hivep1	UTSW	13	42,313,664 (GRCm39)	missense	probably damaging	1.00
R6012:Hivep1	UTSW	13	42,337,934 (GRCm39)	missense	possibly damaging	0.50
R6033:Hivep1	UTSW	13	42,310,583 (GRCm39)	missense	probably benign	0.20
R6033:Hivep1	UTSW	13	42,310,583 (GRCm39)	missense	probably benign	0.20
R6037:Hivep1	UTSW	13	42,311,416 (GRCm39)	missense	probably damaging	1.00
R6037:Hivep1	UTSW	13	42,311,416 (GRCm39)	missense	probably damaging	1.00
R6247:Hivep1	UTSW	13	42,310,966 (GRCm39)	missense	probably benign
R6343:Hivep1	UTSW	13	42,313,147 (GRCm39)	nonsense	probably null
R6631:Hivep1	UTSW	13	42,309,956 (GRCm39)	missense	probably damaging	0.96
R6720:Hivep1	UTSW	13	42,317,760 (GRCm39)	missense	probably damaging	1.00
R6767:Hivep1	UTSW	13	42,308,203 (GRCm39)	missense	probably damaging	0.99
R6797:Hivep1	UTSW	13	42,310,557 (GRCm39)	missense	probably benign	0.00
R6800:Hivep1	UTSW	13	42,310,852 (GRCm39)	missense	probably damaging	1.00
R6854:Hivep1	UTSW	13	42,309,983 (GRCm39)	missense	probably damaging	1.00
R6919:Hivep1	UTSW	13	42,336,928 (GRCm39)	missense	probably benign	0.00
R6993:Hivep1	UTSW	13	42,312,190 (GRCm39)	missense	possibly damaging	0.94
R7104:Hivep1	UTSW	13	42,310,814 (GRCm39)	missense	probably benign	0.26
R7139:Hivep1	UTSW	13	42,313,430 (GRCm39)	missense	probably benign	0.28
R7186:Hivep1	UTSW	13	42,309,814 (GRCm39)	missense	probably benign	0.01
R7227:Hivep1	UTSW	13	42,310,387 (GRCm39)	missense	probably benign	0.02
R7263:Hivep1	UTSW	13	42,311,668 (GRCm39)	missense	possibly damaging	0.50
R7438:Hivep1	UTSW	13	42,308,387 (GRCm39)	missense	probably damaging	0.99
R7490:Hivep1	UTSW	13	42,311,126 (GRCm39)	missense	probably damaging	1.00
R7583:Hivep1	UTSW	13	42,317,716 (GRCm39)	missense	probably damaging	1.00
R7708:Hivep1	UTSW	13	42,317,753 (GRCm39)	nonsense	probably null
R7763:Hivep1	UTSW	13	42,312,937 (GRCm39)	missense	probably benign	0.12
R7840:Hivep1	UTSW	13	42,308,828 (GRCm39)	missense	probably benign
R7864:Hivep1	UTSW	13	42,312,290 (GRCm39)	missense	probably benign	0.02
R7913:Hivep1	UTSW	13	42,309,842 (GRCm39)	missense	probably benign	0.00
R7934:Hivep1	UTSW	13	42,308,174 (GRCm39)	missense	probably benign	0.17
R8017:Hivep1	UTSW	13	42,321,098 (GRCm39)	missense
R8019:Hivep1	UTSW	13	42,321,098 (GRCm39)	missense
R8312:Hivep1	UTSW	13	42,308,653 (GRCm39)	missense	possibly damaging	0.80
R8336:Hivep1	UTSW	13	42,309,405 (GRCm39)	missense	probably benign	0.00
R8415:Hivep1	UTSW	13	42,308,905 (GRCm39)	missense	probably benign	0.20
R8477:Hivep1	UTSW	13	42,337,696 (GRCm39)	missense	probably benign	0.00
R8868:Hivep1	UTSW	13	42,312,407 (GRCm39)	missense	possibly damaging	0.82
R9015:Hivep1	UTSW	13	42,311,849 (GRCm39)	missense	probably benign	0.34
R9185:Hivep1	UTSW	13	42,337,975 (GRCm39)	missense	possibly damaging	0.86
R9225:Hivep1	UTSW	13	42,337,184 (GRCm39)	missense	probably damaging	1.00
R9330:Hivep1	UTSW	13	42,317,713 (GRCm39)	missense	probably damaging	1.00
R9364:Hivep1	UTSW	13	42,308,251 (GRCm39)	missense	possibly damaging	0.63
R9377:Hivep1	UTSW	13	42,335,403 (GRCm39)	missense	probably benign	0.13
R9422:Hivep1	UTSW	13	42,313,213 (GRCm39)	missense	probably benign	0.06
R9451:Hivep1	UTSW	13	42,337,252 (GRCm39)	missense	probably benign	0.00
R9480:Hivep1	UTSW	13	42,337,058 (GRCm39)	missense	probably damaging	1.00
R9490:Hivep1	UTSW	13	42,311,518 (GRCm39)	missense	probably damaging	0.96
R9502:Hivep1	UTSW	13	42,322,779 (GRCm39)	missense
R9554:Hivep1	UTSW	13	42,308,251 (GRCm39)	missense	possibly damaging	0.63
X0060:Hivep1	UTSW	13	42,308,461 (GRCm39)	missense	probably benign	0.07
X0067:Hivep1	UTSW	13	42,310,193 (GRCm39)	missense	probably damaging	0.98
Z1177:Hivep1	UTSW	13	42,313,457 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGCCTCCCTAGACCTAGAAGAC -3'
(R):5'- ACAATGGTTTGGAGAGCTGC -3'

Sequencing Primer
(F):5'- GACATTTCTAAAGTAGAGCTGGCCC -3'
(R):5'- TTGGAGAGCTGCTGCAC -3'

Posted On

2018-02-28