Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Zfp518a'

186048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp518a

Ensembl Gene

ENSMUSG00000049164

Gene Name

zinc finger protein 518A

Synonyms

6330417C12Rik, 2810401C22Rik, Zfp518

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

40894705-40917947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40914617 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 997 (G997R)

Ref Sequence

ENSEMBL: ENSMUSP00000055956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050092]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050092
AA Change: G997R

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

SMART Domains

Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: G997R

Domain	Start	End	E-Value	Type
ZnF_C2H2	121	146	1.38e2	SMART
ZnF_C2H2	152	174	4.98e-1	SMART
ZnF_C2H2	179	203	6.75e0	SMART
ZnF_C2H2	209	231	4.34e-1	SMART
ZnF_C2H2	236	258	1.33e-1	SMART
ZnF_C2H2	264	287	9.44e-2	SMART
low complexity region	308	319	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
low complexity region	544	563	N/A	INTRINSIC
low complexity region	671	680	N/A	INTRINSIC
low complexity region	814	825	N/A	INTRINSIC
low complexity region	1147	1164	N/A	INTRINSIC
low complexity region	1417	1424	N/A	INTRINSIC
ZnF_C2H2	1444	1466	1.33e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Zfp518a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Zfp518a	APN	19	40913470	missense	probably damaging	0.99
IGL00647:Zfp518a	APN	19	40914686	missense	probably damaging	1.00
IGL01468:Zfp518a	APN	19	40916031	missense	probably benign	0.25
IGL02080:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02437:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02466:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02470:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02471:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02472:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02500:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02537:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02537:Zfp518a	APN	19	40915430	missense	probably benign	0.05
IGL02546:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02547:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02561:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02568:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02583:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02584:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02586:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02589:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02614:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02732:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
IGL02961:Zfp518a	APN	19	40915018	missense	probably benign	0.44
IGL02985:Zfp518a	APN	19	40913667	missense	possibly damaging	0.92
R4630_zfp518a_157	UTSW	19	40912979	nonsense	probably null
R0137:Zfp518a	UTSW	19	40915866	missense	probably damaging	1.00
R0218:Zfp518a	UTSW	19	40912628	missense	probably benign	0.25
R0367:Zfp518a	UTSW	19	40912221	missense	probably damaging	1.00
R0575:Zfp518a	UTSW	19	40912315	missense	probably damaging	1.00
R1418:Zfp518a	UTSW	19	40914359	missense	probably damaging	1.00
R1795:Zfp518a	UTSW	19	40915556	missense	probably benign	0.05
R1965:Zfp518a	UTSW	19	40913510	missense	probably benign	0.00
R2076:Zfp518a	UTSW	19	40914327	missense	probably damaging	1.00
R3796:Zfp518a	UTSW	19	40915310	missense	probably damaging	1.00
R3799:Zfp518a	UTSW	19	40915310	missense	probably damaging	1.00
R3807:Zfp518a	UTSW	19	40914797	missense	possibly damaging	0.90
R3904:Zfp518a	UTSW	19	40914920	nonsense	probably null
R3959:Zfp518a	UTSW	19	40912698	missense	probably damaging	1.00
R4630:Zfp518a	UTSW	19	40912979	nonsense	probably null
R4662:Zfp518a	UTSW	19	40911860	missense	probably benign	0.01
R4844:Zfp518a	UTSW	19	40914896	missense	probably damaging	0.99
R4911:Zfp518a	UTSW	19	40915528	missense	probably benign	0.04
R4934:Zfp518a	UTSW	19	40914263	missense	probably benign	0.01
R4964:Zfp518a	UTSW	19	40915851	missense	possibly damaging	0.94
R4966:Zfp518a	UTSW	19	40915851	missense	possibly damaging	0.94
R5373:Zfp518a	UTSW	19	40913510	missense	probably benign	0.00
R5374:Zfp518a	UTSW	19	40913510	missense	probably benign	0.00
R5378:Zfp518a	UTSW	19	40915856	missense	probably damaging	1.00
R5509:Zfp518a	UTSW	19	40915401	missense	possibly damaging	0.60
R5891:Zfp518a	UTSW	19	40912433	missense	probably damaging	1.00
R6187:Zfp518a	UTSW	19	40915446	missense	probably benign	0.03
R6259:Zfp518a	UTSW	19	40912781	missense	probably benign	0.01
R6260:Zfp518a	UTSW	19	40914123	missense	probably benign	0.00
R6763:Zfp518a	UTSW	19	40913748	missense	probably damaging	1.00
R7419:Zfp518a	UTSW	19	40913763	missense	possibly damaging	0.94
R7448:Zfp518a	UTSW	19	40914157	missense	possibly damaging	0.70
R7719:Zfp518a	UTSW	19	40912768	missense	probably benign	0.01
R7753:Zfp518a	UTSW	19	40915805	missense	possibly damaging	0.47
R8181:Zfp518a	UTSW	19	40913971	missense	probably damaging	1.00
R8470:Zfp518a	UTSW	19	40915718	missense	probably benign	0.01
X0028:Zfp518a	UTSW	19	40914933	missense	possibly damaging	0.61
X0065:Zfp518a	UTSW	19	40914182	nonsense	probably null

Posted On

2014-05-07