Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02614:Zfp518a'

300593

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: 0.926) question?

Stock #

IGL02614

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,044,215 (GRCm39)		probably benign	Het
Acadsb	A	G	7: 131,026,357 (GRCm39)	T67A	probably benign	Het
Aff2	A	G	X: 68,907,693 (GRCm39)	D1225G	possibly damaging	Het
Atp2a2	T	C	5: 122,627,366 (GRCm39)	D133G	probably benign	Het
Cacul1	A	T	19: 60,551,661 (GRCm39)	M187K	possibly damaging	Het
Celf4	A	G	18: 25,637,207 (GRCm39)	Y263H	probably damaging	Het
Cmbl	G	T	15: 31,589,830 (GRCm39)	V187F	probably damaging	Het
Epha1	T	C	6: 42,337,491 (GRCm39)	N896S	probably benign	Het
Fbxo27	G	A	7: 28,396,201 (GRCm39)		probably null	Het
Galnt16	T	C	12: 80,623,337 (GRCm39)	S166P	probably damaging	Het
Gm1110	A	G	9: 26,832,010 (GRCm39)	V47A	probably benign	Het
Gmnn	A	G	13: 24,944,137 (GRCm39)		probably benign	Het
Gpbp1	T	C	13: 111,573,007 (GRCm39)	I382V	probably benign	Het
Gpr87	C	A	3: 59,086,738 (GRCm39)	V256L	probably damaging	Het
Il4ra	C	A	7: 125,174,962 (GRCm39)	S390*	probably null	Het
Itprid1	A	T	6: 55,945,262 (GRCm39)	D661V	probably damaging	Het
Lrrc47	T	C	4: 154,103,392 (GRCm39)		probably null	Het
Lrriq4	A	T	3: 30,709,788 (GRCm39)	L362F	probably damaging	Het
Lrrtm4	A	T	6: 79,998,827 (GRCm39)	N79Y	probably benign	Het
Nr1i2	T	A	16: 38,074,118 (GRCm39)	H165L	probably damaging	Het
Or10g1b	T	C	14: 52,627,627 (GRCm39)	E201G	probably damaging	Het
Phf11a	T	A	14: 59,516,817 (GRCm39)	T214S	possibly damaging	Het
Prr14l	A	T	5: 32,987,887 (GRCm39)	I536K	possibly damaging	Het
Rpn1	T	A	6: 88,079,087 (GRCm39)	I510N	probably benign	Het
Sall4	A	T	2: 168,597,805 (GRCm39)	L20Q	probably null	Het
Sema3f	T	C	9: 107,559,710 (GRCm39)	E759G	probably benign	Het
Slc5a1	T	C	5: 33,311,945 (GRCm39)	S446P	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Ttn	T	C	2: 76,542,331 (GRCm39)	T31806A	possibly damaging	Het
Ubr1	T	C	2: 120,701,460 (GRCm39)		probably benign	Het
Vac14	T	G	8: 111,361,750 (GRCm39)	L214R	probably damaging	Het
Vmn2r58	T	C	7: 41,486,553 (GRCm39)	K781E	probably damaging	Het
Vmn2r92	T	C	17: 18,387,503 (GRCm39)		probably benign	Het
Zfp609	G	A	9: 65,610,072 (GRCm39)	P964S	probably damaging	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
IGL02470: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
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