Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01468:Zfp518a'

88173

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

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL01468

Quality Score

Status

Chromosome

Chromosomal Location

40894705-40917947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40916031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1468 (V1468A)

Ref Sequence

ENSEMBL: ENSMUSP00000055956 (fasta)

Gene Model

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

AlphaFold

B2RRF6

Predicted Effect

probably benign
Transcript: ENSMUST00000050092
AA Change: V1468A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: V1468A

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 80,003,877	V781I	probably benign	Het
Aldh5a1	G	T	13: 24,911,553		probably benign	Het
Arhgap12	T	C	18: 6,057,576	T435A	probably benign	Het
Atrnl1	G	A	19: 57,699,712	V870I	probably benign	Het
Cerkl	A	T	2: 79,343,215		probably null	Het
Cntnap2	T	A	6: 47,271,371	L13*	probably null	Het
Cr2	G	A	1: 195,168,535	P208S	probably damaging	Het
Dapk1	A	G	13: 60,760,798	D1075G	probably benign	Het
Dhx57	T	A	17: 80,255,610	K863*	probably null	Het
Dnaaf5	C	A	5: 139,151,480		probably null	Het
Fbxw7	T	A	3: 84,972,499	I336K	probably benign	Het
Ftcd	A	G	10: 76,584,587	D385G	probably benign	Het
Gm10153	T	C	7: 142,190,041	S117G	unknown	Het
Gzmb	T	C	14: 56,260,315	Y156C	probably benign	Het
Herc3	T	A	6: 58,854,895	D83E	probably benign	Het
Kif2b	A	G	11: 91,576,365	V364A	probably damaging	Het
Mknk2	A	G	10: 80,667,664		probably benign	Het
Olfr1352	A	T	10: 78,983,862	Q24L	probably damaging	Het
Pgm2	A	T	4: 99,962,170	N197I	possibly damaging	Het
Prss39	C	T	1: 34,499,400		probably benign	Het
Shroom3	T	C	5: 92,940,342	V236A	probably damaging	Het
Slc17a8	C	T	10: 89,592,021		probably null	Het
Slc24a3	A	G	2: 145,613,580	Y463C	probably benign	Het
Slc4a7	A	G	14: 14,737,480	E149G	probably damaging	Het
Synj1	G	A	16: 91,010,172		probably benign	Het
Tas2r138	T	A	6: 40,612,476	M279L	probably benign	Het
Terb1	A	G	8: 104,482,167		probably benign	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Trmt5	C	T	12: 73,281,104	V442I	probably benign	Het
Tsc2	T	C	17: 24,621,097	I383V	possibly damaging	Het
Uchl4	A	G	9: 64,235,716	T160A	possibly damaging	Het
Vmn2r3	A	T	3: 64,274,961	M439K	possibly damaging	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Vmn2r52	A	T	7: 10,158,941	L757Q	probably damaging	Het
Zxdc	A	T	6: 90,373,779	E404V	probably damaging	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
IGL02079:Zfp518a	APN	19	40914617	missense	probably damaging	1.00
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
R8905:Zfp518a	UTSW	19	40914336	missense	probably damaging	1.00
R8911:Zfp518a	UTSW	19	40913426	missense	possibly damaging	0.87
R8912:Zfp518a	UTSW	19	40913426	missense	possibly damaging	0.87
R8917:Zfp518a	UTSW	19	40913426	missense	possibly damaging	0.87
R8918:Zfp518a	UTSW	19	40913426	missense	possibly damaging	0.87
R8968:Zfp518a	UTSW	19	40913426	missense	possibly damaging	0.87
R9029:Zfp518a	UTSW	19	40912781	missense	probably benign
R9335:Zfp518a	UTSW	19	40912781	missense	probably benign
R9336:Zfp518a	UTSW	19	40912781	missense	probably benign
R9581:Zfp518a	UTSW	19	40911712	missense	probably damaging	1.00
R9750:Zfp518a	UTSW	19	40915445	missense	possibly damaging	0.95
X0028:Zfp518a	UTSW	19	40914933	missense	possibly damaging	0.61
X0065:Zfp518a	UTSW	19	40914182	nonsense	probably null

Posted On

2013-11-18