Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03173:Hivep2'

411907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hivep2

Ensembl Gene

ENSMUSG00000015501

Gene Name

human immunodeficiency virus type I enhancer binding protein 2

Synonyms

Gm20114, Shn-2, Schnurri-2, MIBP1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL03173

Quality Score

Status

Chromosome

Chromosomal Location

13841819-14027118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14003726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 108 (G108V)

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

possibly damaging
Transcript: ENSMUST00000015645
AA Change: G108V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: G108V

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

possibly damaging
Transcript: ENSMUST00000186989
AA Change: G108V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140180
Gene: ENSMUSG00000015501
AA Change: G108V

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

possibly damaging
Transcript: ENSMUST00000187083
AA Change: G108V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: G108V

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

possibly damaging
Transcript: ENSMUST00000191138
AA Change: G108V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: G108V

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

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
Atg2b	T	C	12: 105,624,553 (GRCm39)	K649E	possibly damaging	Het
Cnnm4	A	G	1: 36,512,173 (GRCm39)		probably benign	Het
Cntrob	C	T	11: 69,200,853 (GRCm39)	A503T	possibly damaging	Het
D3Ertd751e	T	A	3: 41,710,497 (GRCm39)	Y170N	probably damaging	Het
Ddx23	T	C	15: 98,548,885 (GRCm39)	I306V	probably benign	Het
Ep400	A	G	5: 110,856,737 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Irgc	T	C	7: 24,132,727 (GRCm39)	E30G	probably damaging	Het
Krt75	T	C	15: 101,481,162 (GRCm39)	Y204C	probably damaging	Het
Ms4a14	G	A	19: 11,281,560 (GRCm39)	L333F	possibly damaging	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or5an6	T	A	19: 12,372,410 (GRCm39)	M261K	possibly damaging	Het
Or8k27	A	T	2: 86,275,788 (GRCm39)	C179*	probably null	Het
Pitpnm3	G	A	11: 71,983,389 (GRCm39)	T80I	probably benign	Het
Pou2f2	T	C	7: 24,799,371 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,561,089 (GRCm39)	L518P	probably damaging	Het
Sorbs1	T	A	19: 40,351,706 (GRCm39)	T235S	probably damaging	Het
Ssxa1	C	T	X: 20,985,224 (GRCm39)	R41C	probably benign	Het
Syt2	A	G	1: 134,671,317 (GRCm39)	N142D	possibly damaging	Het
Taf3	A	G	2: 9,957,738 (GRCm39)	V143A	probably damaging	Het
Trav13-5	T	C	14: 54,033,534 (GRCm39)		probably benign	Het
Tti1	A	G	2: 157,848,932 (GRCm39)		probably benign	Het
Vmn2r13	T	C	5: 109,319,645 (GRCm39)	E445G	possibly damaging	Het
Zfp663	G	T	2: 165,194,419 (GRCm39)	T600K	probably damaging	Het
Zfp750	G	A	11: 121,404,651 (GRCm39)	Q75*	probably null	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
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	14,015,273 (GRCm39)	nonsense	probably null
R2085:Hivep2	UTSW	10	14,004,713 (GRCm39)	missense	probably benign	0.16
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
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

Posted On

2016-08-02