Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Zfp518a'

297858

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: 0.919) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

40894705-40917947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40914617 bp (GRCm38)

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]

AlphaFold

B2RRF6

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	C	T	5: 109,678,762		probably null	Het
Akap6	T	A	12: 53,140,696	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,603,276		probably benign	Het
Atp5o	A	T	16: 91,928,961	Y48N	probably damaging	Het
Birc6	T	G	17: 74,579,645	M656R	probably benign	Het
Camkk1	A	G	11: 73,038,433	R455G	probably benign	Het
Casr	A	T	16: 36,515,674	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,214,146	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,202,504		probably benign	Het
Cdc37	G	T	9: 21,139,966		probably benign	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cyp4f15	A	G	17: 32,700,255	R351G	probably benign	Het
Dclk3	T	C	9: 111,469,023	I545T	probably damaging	Het
Dock4	A	G	12: 40,737,479	M798V	probably benign	Het
Gas7	A	T	11: 67,665,435	Q200L	probably damaging	Het
Gm15448	T	C	7: 3,821,661	D573G	probably damaging	Het
Gm4758	A	T	16: 36,312,526		probably benign	Het
Gm6614	A	T	6: 141,990,390	L323Q	probably damaging	Het
Ica1	T	C	6: 8,670,691		probably null	Het
Idh3a	T	A	9: 54,592,395	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970	T247S	probably benign	Het
Itgb7	A	G	15: 102,218,510	C497R	probably damaging	Het
Itm2c	T	C	1: 85,906,461	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,672,484	D98G	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Muc15	A	G	2: 110,731,305	R29G	probably damaging	Het
Neb	T	A	2: 52,188,730	T142S	probably damaging	Het
Nipbl	G	A	15: 8,351,598	T570I	probably benign	Het
Nr5a2	T	A	1: 136,940,927	M196L	probably benign	Het
Nrp1	C	A	8: 128,493,031	F643L	probably benign	Het
Olfr1098	A	G	2: 86,923,028	F168S	probably damaging	Het
Olfr1441	A	T	19: 12,422,311	M1L	probably benign	Het
Olfr600	A	G	7: 103,346,244	F228S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,766	I16T	probably benign	Het
Osbpl9	C	T	4: 109,068,483	W446*	probably null	Het
Pced1a	T	C	2: 130,419,707	D342G	possibly damaging	Het
Prkcd	C	A	14: 30,599,469	W555L	probably damaging	Het
Prpf31	T	C	7: 3,630,899	S78P	probably benign	Het
Psg27	T	C	7: 18,560,628	T285A	probably benign	Het
Retreg3	A	T	11: 101,106,378	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501	K282E	possibly damaging	Het
Sept8	G	T	11: 53,537,265	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,116,543	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301		probably benign	Het
Spats1	A	T	17: 45,474,817		probably benign	Het
Tcerg1l	C	T	7: 138,248,371		probably null	Het
Ttn	A	G	2: 76,729,386	V21230A	probably damaging	Het
Ubxn11	A	C	4: 134,109,584	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,908,019	I979S	possibly damaging	Het
Zc3h6	T	A	2: 129,015,611	H683Q	probably benign	Het
Zfp629	T	C	7: 127,611,674		probably null	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
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
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

2015-04-16