Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02470:Zfp518a'

294680

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp518a

Ensembl Gene

ENSMUSG00000049164

Gene Name

zinc finger protein 518A

Synonyms

6330417C12Rik, Zfp518, 2810401C22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

40883149-40906391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40903061 bp (GRCm39)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	G	1: 165,395,295 (GRCm39)	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,025,114 (GRCm39)	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,627,406 (GRCm39)	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,086,747 (GRCm39)		probably benign	Het
BB014433	A	T	8: 15,092,803 (GRCm39)	F17I	unknown	Het
Best1	T	C	19: 9,970,340 (GRCm39)	S91G	probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dcc	A	T	18: 72,088,153 (GRCm39)		probably benign	Het
Dnajc13	G	A	9: 104,052,946 (GRCm39)	T1672I	probably benign	Het
Elf3	A	T	1: 135,182,750 (GRCm39)	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,702,856 (GRCm39)	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,515,869 (GRCm39)	Y646H	probably damaging	Het
Fzd6	A	T	15: 38,899,952 (GRCm39)		probably benign	Het
Gnb1	T	A	4: 155,611,970 (GRCm39)		probably benign	Het
Mast1	C	A	8: 85,647,841 (GRCm39)	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,306,345 (GRCm39)	I424M	possibly damaging	Het
Mobp	A	G	9: 119,997,072 (GRCm39)	T68A	probably benign	Het
Myh11	T	C	16: 14,035,910 (GRCm39)	E1006G	probably damaging	Het
Ncstn	A	G	1: 171,910,166 (GRCm39)		probably null	Het
Or1j12	A	G	2: 36,342,609 (GRCm39)	D4G	probably benign	Het
Or8k39	A	T	2: 86,563,929 (GRCm39)	V9E	probably damaging	Het
Phip	A	T	9: 82,772,507 (GRCm39)	V1075D	possibly damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Serpinb1a	C	T	13: 33,034,376 (GRCm39)	S5N	probably damaging	Het
Slc15a3	A	G	19: 10,830,534 (GRCm39)	N295S	probably benign	Het
Trmt13	A	C	3: 116,383,877 (GRCm39)		probably null	Het
Trp63	A	C	16: 25,639,134 (GRCm39)		probably benign	Het

Other mutations in Zfp518a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Zfp518a	APN	19	40,901,914 (GRCm39)	missense	probably damaging	0.99
IGL00647:Zfp518a	APN	19	40,903,130 (GRCm39)	missense	probably damaging	1.00
IGL01468:Zfp518a	APN	19	40,904,475 (GRCm39)	missense	probably benign	0.25
IGL02079:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02080:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02437:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02466:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02471:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02472:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02500:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02537:Zfp518a	APN	19	40,903,874 (GRCm39)	missense	probably benign	0.05
IGL02537:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02546:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02547:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02561:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02568:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02583:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02584:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02586:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02589:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02614:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02732:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02961:Zfp518a	APN	19	40,903,462 (GRCm39)	missense	probably benign	0.44
IGL02985:Zfp518a	APN	19	40,902,111 (GRCm39)	missense	possibly damaging	0.92
R4630_zfp518a_157	UTSW	19	40,901,423 (GRCm39)	nonsense	probably null
R0137:Zfp518a	UTSW	19	40,904,310 (GRCm39)	missense	probably damaging	1.00
R0218:Zfp518a	UTSW	19	40,901,072 (GRCm39)	missense	probably benign	0.25
R0367:Zfp518a	UTSW	19	40,900,665 (GRCm39)	missense	probably damaging	1.00
R0575:Zfp518a	UTSW	19	40,900,759 (GRCm39)	missense	probably damaging	1.00
R1418:Zfp518a	UTSW	19	40,902,803 (GRCm39)	missense	probably damaging	1.00
R1795:Zfp518a	UTSW	19	40,904,000 (GRCm39)	missense	probably benign	0.05
R1965:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R2076:Zfp518a	UTSW	19	40,902,771 (GRCm39)	missense	probably damaging	1.00
R3796:Zfp518a	UTSW	19	40,903,754 (GRCm39)	missense	probably damaging	1.00
R3799:Zfp518a	UTSW	19	40,903,754 (GRCm39)	missense	probably damaging	1.00
R3807:Zfp518a	UTSW	19	40,903,241 (GRCm39)	missense	possibly damaging	0.90
R3904:Zfp518a	UTSW	19	40,903,364 (GRCm39)	nonsense	probably null
R3959:Zfp518a	UTSW	19	40,901,142 (GRCm39)	missense	probably damaging	1.00
R4630:Zfp518a	UTSW	19	40,901,423 (GRCm39)	nonsense	probably null
R4662:Zfp518a	UTSW	19	40,900,304 (GRCm39)	missense	probably benign	0.01
R4844:Zfp518a	UTSW	19	40,903,340 (GRCm39)	missense	probably damaging	0.99
R4911:Zfp518a	UTSW	19	40,903,972 (GRCm39)	missense	probably benign	0.04
R4934:Zfp518a	UTSW	19	40,902,707 (GRCm39)	missense	probably benign	0.01
R4964:Zfp518a	UTSW	19	40,904,295 (GRCm39)	missense	possibly damaging	0.94
R4966:Zfp518a	UTSW	19	40,904,295 (GRCm39)	missense	possibly damaging	0.94
R5373:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R5374:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R5378:Zfp518a	UTSW	19	40,904,300 (GRCm39)	missense	probably damaging	1.00
R5509:Zfp518a	UTSW	19	40,903,845 (GRCm39)	missense	possibly damaging	0.60
R5891:Zfp518a	UTSW	19	40,900,877 (GRCm39)	missense	probably damaging	1.00
R6187:Zfp518a	UTSW	19	40,903,890 (GRCm39)	missense	probably benign	0.03
R6259:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign	0.01
R6260:Zfp518a	UTSW	19	40,902,567 (GRCm39)	missense	probably benign	0.00
R6763:Zfp518a	UTSW	19	40,902,192 (GRCm39)	missense	probably damaging	1.00
R7419:Zfp518a	UTSW	19	40,902,207 (GRCm39)	missense	possibly damaging	0.94
R7448:Zfp518a	UTSW	19	40,902,601 (GRCm39)	missense	possibly damaging	0.70
R7719:Zfp518a	UTSW	19	40,901,212 (GRCm39)	missense	probably benign	0.01
R7753:Zfp518a	UTSW	19	40,904,249 (GRCm39)	missense	possibly damaging	0.47
R8181:Zfp518a	UTSW	19	40,902,415 (GRCm39)	missense	probably damaging	1.00
R8470:Zfp518a	UTSW	19	40,904,162 (GRCm39)	missense	probably benign	0.01
R8905:Zfp518a	UTSW	19	40,902,780 (GRCm39)	missense	probably damaging	1.00
R8911:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8912:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8917:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8918:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8968:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R9029:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9335:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9336:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9581:Zfp518a	UTSW	19	40,900,156 (GRCm39)	missense	probably damaging	1.00
R9750:Zfp518a	UTSW	19	40,903,889 (GRCm39)	missense	possibly damaging	0.95
X0028:Zfp518a	UTSW	19	40,903,377 (GRCm39)	missense	possibly damaging	0.61
X0065:Zfp518a	UTSW	19	40,902,626 (GRCm39)	nonsense	probably null

Posted On

2015-04-16