Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02535:Hivep2'

297470

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: 0.936) question?

Stock #

IGL02535

Quality Score

Status

Chromosome

Chromosomal Location

13841819-14027118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14015241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1803 (R1803C)

Ref Sequence

ENSEMBL: ENSMUSP00000140150 (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: R1803C

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

SMART Domains

Protein: ENSMUSP00000015645
Gene: ENSMUSG00000015501
AA Change: R1803C

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: R1803C

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

SMART Domains

Protein: ENSMUSP00000140290
Gene: ENSMUSG00000015501
AA Change: R1803C

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: R1803C

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

SMART Domains

Protein: ENSMUSP00000140150
Gene: ENSMUSG00000015501
AA Change: R1803C

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	T	6: 142,574,152 (GRCm39)	D993E	probably benign	Het
Acap1	T	C	11: 69,773,520 (GRCm39)	N430D	probably benign	Het
Actl11	T	A	9: 107,807,136 (GRCm39)	D486E	possibly damaging	Het
Adh6a	A	G	3: 138,033,151 (GRCm39)	N281D	probably benign	Het
Apon	A	T	10: 128,090,823 (GRCm39)	E167V	probably damaging	Het
Bahcc1	T	A	11: 120,178,362 (GRCm39)	M2307K	possibly damaging	Het
Cdca3	A	G	6: 124,807,521 (GRCm39)	T10A	probably damaging	Het
Cplane1	T	G	15: 8,204,322 (GRCm39)	V65G	probably damaging	Het
Dusp16	T	C	6: 134,695,790 (GRCm39)	E347G	probably benign	Het
Dysf	A	T	6: 84,126,679 (GRCm39)	Y1298F	possibly damaging	Het
F12	T	C	13: 55,574,157 (GRCm39)	D25G	possibly damaging	Het
F5	T	A	1: 164,026,302 (GRCm39)	S1625T	probably damaging	Het
Fbxl2	T	C	9: 113,808,575 (GRCm39)	E372G	probably benign	Het
Flrt1	T	C	19: 7,074,098 (GRCm39)	I150V	probably benign	Het
Grin2b	T	A	6: 135,756,367 (GRCm39)	I453F	possibly damaging	Het
Il33	A	G	19: 29,930,147 (GRCm39)	N81D	probably benign	Het
Ipo7	T	C	7: 109,653,233 (GRCm39)	Y977H	probably damaging	Het
Lyst	T	C	13: 13,824,927 (GRCm39)	V1514A	probably benign	Het
Map1a	C	A	2: 121,132,658 (GRCm39)	S920*	probably null	Het
Nlrp9c	T	C	7: 26,071,522 (GRCm39)	N862S	probably damaging	Het
Or1e29	A	G	11: 73,667,442 (GRCm39)	V237A	probably benign	Het
Or8k22	A	G	2: 86,163,019 (GRCm39)	M227T	probably damaging	Het
Or9s23	C	A	1: 92,500,943 (GRCm39)	Q17K	probably benign	Het
P2rx2	T	A	5: 110,490,219 (GRCm39)	T134S	probably benign	Het
Papolg	T	C	11: 23,840,245 (GRCm39)	D77G	probably benign	Het
Pkd1l3	A	T	8: 110,367,522 (GRCm39)	R1240*	probably null	Het
Radx	A	T	X: 138,393,396 (GRCm39)	K217I	probably damaging	Het
Slc22a8	A	T	19: 8,587,567 (GRCm39)	T514S	probably benign	Het
Slc39a5	T	C	10: 128,235,199 (GRCm39)	D136G	probably benign	Het
Tnn	T	C	1: 159,950,222 (GRCm39)		probably null	Het
Trav8d-2	A	T	14: 53,280,141 (GRCm39)	S44C	probably damaging	Het
Tubb1	A	G	2: 174,299,359 (GRCm39)	N347S	probably benign	Het
Ubap1	C	T	4: 41,379,667 (GRCm39)	R294*	probably null	Het
Ube2o	C	T	11: 116,432,591 (GRCm39)	V792M	probably benign	Het
Usp13	A	G	3: 32,892,075 (GRCm39)	S85G	probably benign	Het
Vmac	C	T	17: 57,022,550 (GRCm39)	M61I	probably benign	Het
Vmn1r54	T	A	6: 90,246,260 (GRCm39)	I58N	possibly damaging	Het
Zmym5	A	G	14: 57,035,123 (GRCm39)		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
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	14,015,273 (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

2015-04-16