Mutagenetix > Incidental Mutation

Incidental Mutation 'R2242:Hivep2'

240701

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

040242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R2242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13841819-14027118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14004713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 437 (T437K)

Ref Sequence

ENSEMBL: ENSMUSP00000140150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015645] [ENSMUST00000186989] [ENSMUST00000187083] [ENSMUST00000191138]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015645
AA Change: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: T437K

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 benign
Transcript: ENSMUST00000186989

SMART Domains

Protein: ENSMUSP00000140180
Gene: ENSMUSG00000015501

Domain	Start	End	E-Value	Type
low complexity region	177	188	N/A	INTRINSIC
ZnF_C2H2	189	211	7.9e-6	SMART
ZnF_C2H2	217	239	3.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187083
AA Change: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: T437K

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 benign
Transcript: ENSMUST00000191138
AA Change: T437K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: T437K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,837,460 (GRCm39)	S630T	probably benign	Het
Afap1l2	T	C	19: 56,902,900 (GRCm39)	I760V	possibly damaging	Het
Cdc20	A	G	4: 118,290,722 (GRCm39)	V426A	probably benign	Het
Clca3a2	T	C	3: 144,796,551 (GRCm39)	S219G	probably damaging	Het
Corin	A	T	5: 72,490,054 (GRCm39)	D603E	probably damaging	Het
Dctn1	A	G	6: 83,176,687 (GRCm39)	Y1205C	probably damaging	Het
Dync2h1	A	T	9: 7,037,828 (GRCm39)		probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Fes	T	G	7: 80,031,473 (GRCm39)	E467A	probably damaging	Het
Ftsj3	T	A	11: 106,141,604 (GRCm39)	Q548L	probably benign	Het
Gpc6	A	T	14: 117,424,199 (GRCm39)	T96S	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lama4	G	A	10: 38,902,689 (GRCm39)	C221Y	probably damaging	Het
Malrd1	T	C	2: 16,106,755 (GRCm39)	C1856R	unknown	Het
Mfsd6	G	T	1: 52,748,757 (GRCm39)	P36Q	probably benign	Het
Ofcc1	A	G	13: 40,296,263 (GRCm39)	S524P	probably benign	Het
Or13c3	A	G	4: 52,855,769 (GRCm39)	V248A	probably damaging	Het
Or2n1b	A	G	17: 38,459,613 (GRCm39)	I45V	possibly damaging	Het
Ripor2	A	G	13: 24,855,755 (GRCm39)	E65G	probably benign	Het
Sardh	A	T	2: 27,125,527 (GRCm39)	V329E	possibly damaging	Het
Slc37a3	A	G	6: 39,315,739 (GRCm39)	S446P	probably benign	Het
Vmn2r57	T	C	7: 41,077,498 (GRCm39)	T223A	probably benign	Het
Wdr47	A	G	3: 108,526,431 (GRCm39)	D318G	probably damaging	Het
Zic4	C	T	9: 91,260,706 (GRCm39)		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
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
R9738:Hivep2	UTSW	10	14,019,583 (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'- GATGACTCTCACACGGTGAAAC -3'
(R):5'- ACATGTTGATTTGACCGGGG -3'

Sequencing Primer
(F):5'- AAACTTGCGCTGAGACTGTC -3'
(R):5'- ATTTGACCGGGGTCCATTTC -3'

Posted On

2014-10-15