Mutagenetix > Incidental Mutation

Incidental Mutation 'R9738:Hivep2'

731730

Institutional Source

Beutler Lab

Gene Symbol

Hivep2

Ensembl Gene

ENSMUSG00000015501

Gene Name

human immunodeficiency virus type I enhancer binding protein 2

Synonyms

Gm20114, Shn-2, Schnurri-2, MIBP1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R9738 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13841819-14027118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14019583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2118 (E2118G)

Ref Sequence

ENSEMBL: ENSMUSP00000015645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015645] [ENSMUST00000187083] [ENSMUST00000191138]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015645
AA Change: E2118G

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

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: E2118G

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187083
AA Change: E2118G

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

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: E2118G

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191138
AA Change: E2118G

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

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: E2118G

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	1.82e-3	SMART
ZnF_C2H2	217	239	7.26e-3	SMART
low complexity region	887	909	N/A	INTRINSIC
low complexity region	922	937	N/A	INTRINSIC
low complexity region	939	956	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	1499	1521	N/A	INTRINSIC
low complexity region	1548	1569	N/A	INTRINSIC
ZnF_C2H2	1783	1805	2.24e-3	SMART
ZnF_C2H2	1811	1835	1.98e-4	SMART
low complexity region	1853	1862	N/A	INTRINSIC
low complexity region	1883	1910	N/A	INTRINSIC
low complexity region	1943	1956	N/A	INTRINSIC
low complexity region	2013	2038	N/A	INTRINSIC
low complexity region	2090	2103	N/A	INTRINSIC
low complexity region	2233	2241	N/A	INTRINSIC
low complexity region	2271	2289	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	A	G	12: 70,216,039 (GRCm39)	T199A	probably benign	Het
Ank2	A	G	3: 126,737,121 (GRCm39)	F2921S	unknown	Het
Atg12	A	G	18: 46,874,505 (GRCm39)	S37P	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cdh5	A	G	8: 104,863,329 (GRCm39)	D413G	probably damaging	Het
Cdk8	A	G	5: 146,236,539 (GRCm39)	N318S	probably benign	Het
Clasp2	T	A	9: 113,590,665 (GRCm39)	L68*	probably null	Het
Cntnap2	CCACATAAACAACACACA	CCACA	6: 45,992,373 (GRCm39)		probably null	Het
Cpne9	A	C	6: 113,267,401 (GRCm39)	N194T	probably damaging	Het
Cpxm1	A	G	2: 130,235,302 (GRCm39)		probably null	Het
Crtc1	T	C	8: 70,840,205 (GRCm39)	N556S	probably damaging	Het
Gm12888	A	T	4: 121,175,520 (GRCm39)	C87*	probably null	Het
Hrh4	A	G	18: 13,155,270 (GRCm39)	N270D	possibly damaging	Het
Iqsec1	G	A	6: 90,671,672 (GRCm39)	Q77*	probably null	Het
Lars1	A	G	18: 42,350,649 (GRCm39)	W887R	probably damaging	Het
Lgr5	A	G	10: 115,288,527 (GRCm39)	Y706H	probably damaging	Het
Ltn1	A	T	16: 87,222,524 (GRCm39)	F170I	probably damaging	Het
Msrb1	T	C	17: 24,958,535 (GRCm39)	S40P	probably damaging	Het
Myh6	T	C	14: 55,189,759 (GRCm39)	I1096V	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Ndrg2	T	C	14: 52,148,238 (GRCm39)	H41R	possibly damaging	Het
Or5an11	A	G	19: 12,245,869 (GRCm39)	T92A	probably benign	Het
Spag17	A	G	3: 99,934,526 (GRCm39)	T603A	possibly damaging	Het
Sugp1	T	A	8: 70,505,256 (GRCm39)	H74Q	probably benign	Het
Tjp1	T	C	7: 64,986,380 (GRCm39)	T243A	probably benign	Het
Tsnaxip1	A	G	8: 106,568,390 (GRCm39)	E358G	possibly damaging	Het
Unc5d	T	A	8: 29,214,332 (GRCm39)	H410L	probably benign	Het
Usp1	T	C	4: 98,819,672 (GRCm39)	V378A	probably benign	Het
Wdtc1	A	G	4: 133,022,604 (GRCm39)	S581P	probably damaging	Het
Zfp947	A	G	17: 22,365,341 (GRCm39)	V111A	probably benign	Het

Other mutations in Hivep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Hivep2	APN	10	14,017,988 (GRCm39)	missense	probably damaging	1.00
IGL00963:Hivep2	APN	10	14,005,091 (GRCm39)	missense	probably damaging	1.00
IGL01066:Hivep2	APN	10	14,024,768 (GRCm39)	missense	possibly damaging	0.92
IGL01395:Hivep2	APN	10	14,008,544 (GRCm39)	critical splice donor site	probably null
IGL01474:Hivep2	APN	10	14,019,406 (GRCm39)	missense	probably damaging	1.00
IGL01481:Hivep2	APN	10	14,024,981 (GRCm39)	missense	probably benign
IGL01597:Hivep2	APN	10	14,025,118 (GRCm39)	nonsense	probably null
IGL01719:Hivep2	APN	10	14,006,267 (GRCm39)	missense	probably damaging	1.00
IGL01952:Hivep2	APN	10	14,018,075 (GRCm39)	missense	possibly damaging	0.54
IGL02170:Hivep2	APN	10	14,003,548 (GRCm39)	missense	possibly damaging	0.46
IGL02315:Hivep2	APN	10	14,006,983 (GRCm39)	missense	probably benign	0.01
IGL02517:Hivep2	APN	10	14,006,926 (GRCm39)	missense	probably benign	0.01
IGL02535:Hivep2	APN	10	14,015,241 (GRCm39)	missense	probably damaging	1.00
IGL02539:Hivep2	APN	10	14,007,622 (GRCm39)	missense	probably damaging	0.97
IGL02637:Hivep2	APN	10	14,006,452 (GRCm39)	missense	possibly damaging	0.89
IGL02715:Hivep2	APN	10	14,007,131 (GRCm39)	missense	probably benign	0.03
IGL02948:Hivep2	APN	10	14,004,757 (GRCm39)	missense	probably benign	0.44
IGL03113:Hivep2	APN	10	14,006,395 (GRCm39)	missense	probably damaging	1.00
IGL03161:Hivep2	APN	10	14,019,100 (GRCm39)	missense	probably damaging	1.00
IGL03173:Hivep2	APN	10	14,003,726 (GRCm39)	missense	possibly damaging	0.75
IGL03310:Hivep2	APN	10	14,019,411 (GRCm39)	missense	probably damaging	1.00
BB010:Hivep2	UTSW	10	14,003,581 (GRCm39)	missense	probably damaging	1.00
BB020:Hivep2	UTSW	10	14,003,581 (GRCm39)	missense	probably damaging	1.00
R0005:Hivep2	UTSW	10	14,004,493 (GRCm39)	missense	probably damaging	0.99
R0053:Hivep2	UTSW	10	14,007,865 (GRCm39)	missense	probably damaging	1.00
R0053:Hivep2	UTSW	10	14,007,865 (GRCm39)	missense	probably damaging	1.00
R0136:Hivep2	UTSW	10	14,007,622 (GRCm39)	missense	probably benign	0.04
R0143:Hivep2	UTSW	10	14,005,099 (GRCm39)	missense	probably damaging	1.00
R0172:Hivep2	UTSW	10	14,015,218 (GRCm39)	missense	probably damaging	1.00
R0226:Hivep2	UTSW	10	14,005,456 (GRCm39)	missense	probably benign	0.26
R0348:Hivep2	UTSW	10	14,005,702 (GRCm39)	missense	possibly damaging	0.76
R0352:Hivep2	UTSW	10	14,019,039 (GRCm39)	missense	possibly damaging	0.74
R0657:Hivep2	UTSW	10	14,007,622 (GRCm39)	missense	probably benign	0.04
R1710:Hivep2	UTSW	10	14,005,249 (GRCm39)	nonsense	probably null
R1959:Hivep2	UTSW	10	14,008,453 (GRCm39)	missense	probably benign	0.02
R2017:Hivep2	UTSW	10	14,006,501 (GRCm39)	missense	probably damaging	0.96
R2085:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2085:Hivep2	UTSW	10	14,015,273 (GRCm39)	nonsense	probably null
R2163:Hivep2	UTSW	10	14,003,970 (GRCm39)	nonsense	probably null
R2206:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2207:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2228:Hivep2	UTSW	10	14,004,107 (GRCm39)	missense	probably damaging	1.00
R2241:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2242:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2243:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2246:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2247:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2273:Hivep2	UTSW	10	14,008,187 (GRCm39)	missense	probably benign	0.02
R2357:Hivep2	UTSW	10	14,019,043 (GRCm39)	missense	probably benign	0.01
R2517:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2519:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2858:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2859:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2916:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R2921:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3051:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3177:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3277:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3620:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3621:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3701:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3802:Hivep2	UTSW	10	14,024,705 (GRCm39)	missense	possibly damaging	0.94
R3810:Hivep2	UTSW	10	14,006,101 (GRCm39)	missense	probably benign
R3811:Hivep2	UTSW	10	14,006,101 (GRCm39)	missense	probably benign
R3817:Hivep2	UTSW	10	14,019,685 (GRCm39)	missense	possibly damaging	0.46
R3818:Hivep2	UTSW	10	14,019,685 (GRCm39)	missense	possibly damaging	0.46
R3819:Hivep2	UTSW	10	14,019,685 (GRCm39)	missense	possibly damaging	0.46
R3836:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3837:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3838:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3839:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3897:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3900:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3932:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3954:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R3957:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4001:Hivep2	UTSW	10	14,003,476 (GRCm39)	missense	probably damaging	1.00
R4134:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4180:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4248:Hivep2	UTSW	10	14,007,299 (GRCm39)	missense	probably damaging	1.00
R4416:Hivep2	UTSW	10	14,004,914 (GRCm39)	missense	probably benign
R4436:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4437:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4474:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4475:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4476:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4636:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4637:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4791:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4792:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
R4825:Hivep2	UTSW	10	14,007,063 (GRCm39)	missense	possibly damaging	0.81
R4955:Hivep2	UTSW	10	14,006,702 (GRCm39)	missense	probably benign	0.44
R5094:Hivep2	UTSW	10	14,007,893 (GRCm39)	missense	probably benign
R5129:Hivep2	UTSW	10	14,006,608 (GRCm39)	missense	probably damaging	1.00
R5163:Hivep2	UTSW	10	14,015,169 (GRCm39)	missense	probably damaging	1.00
R5255:Hivep2	UTSW	10	14,007,011 (GRCm39)	splice site	probably null
R5330:Hivep2	UTSW	10	14,007,164 (GRCm39)	missense	probably damaging	1.00
R5341:Hivep2	UTSW	10	14,008,336 (GRCm39)	missense	possibly damaging	0.94
R5453:Hivep2	UTSW	10	14,003,972 (GRCm39)	missense	possibly damaging	0.78
R5513:Hivep2	UTSW	10	14,008,417 (GRCm39)	nonsense	probably null
R5535:Hivep2	UTSW	10	14,006,766 (GRCm39)	missense	probably benign	0.00
R5613:Hivep2	UTSW	10	14,015,239 (GRCm39)	missense	probably damaging	1.00
R5804:Hivep2	UTSW	10	14,009,519 (GRCm39)	missense	probably benign	0.01
R6074:Hivep2	UTSW	10	14,007,485 (GRCm39)	missense	probably benign	0.18
R6163:Hivep2	UTSW	10	14,005,736 (GRCm39)	missense	probably damaging	0.98
R6250:Hivep2	UTSW	10	14,007,503 (GRCm39)	missense	probably benign	0.01
R6696:Hivep2	UTSW	10	14,009,503 (GRCm39)	missense	probably benign	0.06
R6754:Hivep2	UTSW	10	14,005,382 (GRCm39)	missense	probably benign	0.06
R6756:Hivep2	UTSW	10	14,008,303 (GRCm39)	missense	probably damaging	1.00
R6799:Hivep2	UTSW	10	14,004,757 (GRCm39)	missense	probably benign	0.28
R6862:Hivep2	UTSW	10	14,006,327 (GRCm39)	missense	probably damaging	1.00
R6932:Hivep2	UTSW	10	14,004,245 (GRCm39)	missense	probably damaging	1.00
R6943:Hivep2	UTSW	10	14,004,058 (GRCm39)	missense	probably damaging	1.00
R7027:Hivep2	UTSW	10	14,025,322 (GRCm39)	missense	probably damaging	1.00
R7027:Hivep2	UTSW	10	14,025,321 (GRCm39)	missense	probably damaging	0.99
R7198:Hivep2	UTSW	10	14,005,710 (GRCm39)	missense	probably benign
R7248:Hivep2	UTSW	10	14,006,909 (GRCm39)	missense	possibly damaging	0.86
R7256:Hivep2	UTSW	10	14,004,845 (GRCm39)	missense	probably benign	0.29
R7426:Hivep2	UTSW	10	14,007,061 (GRCm39)	missense	possibly damaging	0.93
R7427:Hivep2	UTSW	10	14,009,485 (GRCm39)	missense	possibly damaging	0.94
R7638:Hivep2	UTSW	10	14,019,595 (GRCm39)	missense	possibly damaging	0.81
R7731:Hivep2	UTSW	10	14,025,458 (GRCm39)	missense	probably benign
R7740:Hivep2	UTSW	10	14,003,414 (GRCm39)	missense	probably damaging	1.00
R7797:Hivep2	UTSW	10	14,005,847 (GRCm39)	missense	probably benign
R7933:Hivep2	UTSW	10	14,003,581 (GRCm39)	missense	probably damaging	1.00
R8329:Hivep2	UTSW	10	14,004,011 (GRCm39)	missense	probably damaging	1.00
R8399:Hivep2	UTSW	10	14,008,178 (GRCm39)	missense	possibly damaging	0.63
R8767:Hivep2	UTSW	10	14,004,992 (GRCm39)	missense	probably damaging	1.00
R8802:Hivep2	UTSW	10	14,015,166 (GRCm39)	missense	probably damaging	1.00
R9002:Hivep2	UTSW	10	14,008,157 (GRCm39)	missense	probably benign	0.02
R9088:Hivep2	UTSW	10	14,006,995 (GRCm39)	missense	probably damaging	1.00
R9137:Hivep2	UTSW	10	14,004,712 (GRCm39)	missense	probably benign
R9198:Hivep2	UTSW	10	14,005,621 (GRCm39)	missense	probably benign	0.06
R9338:Hivep2	UTSW	10	14,004,693 (GRCm39)	nonsense	probably null
R9408:Hivep2	UTSW	10	14,007,505 (GRCm39)	missense	probably damaging	1.00
R9514:Hivep2	UTSW	10	14,005,523 (GRCm39)	missense	probably benign	0.34
R9516:Hivep2	UTSW	10	14,005,523 (GRCm39)	missense	probably benign	0.34
R9591:Hivep2	UTSW	10	14,019,640 (GRCm39)	missense	probably damaging	0.96
R9623:Hivep2	UTSW	10	14,006,546 (GRCm39)	missense	probably damaging	1.00
R9710:Hivep2	UTSW	10	14,015,203 (GRCm39)	missense	probably damaging	1.00
R9781:Hivep2	UTSW	10	14,005,828 (GRCm39)	missense	probably benign
Z1177:Hivep2	UTSW	10	14,019,051 (GRCm39)	missense	probably damaging	0.98
Z1177:Hivep2	UTSW	10	14,007,530 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATAATTCGCCAAAGAGGTATCTG -3'
(R):5'- AGGAGGTTCTAATGCTCTGCAG -3'

Sequencing Primer
(F):5'- CTGATACCCAAAGGAGATTTGTCAC -3'
(R):5'- CTCTGCAGCTCTGGTGAAG -3'

Posted On

2022-11-14