Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02546:Zfp518a'

297815

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 #

IGL02546

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	T	12: 52,927,521 (GRCm39)	V144L	probably damaging	Het
Carmil1	A	T	13: 24,299,482 (GRCm39)	N347K	probably damaging	Het
Cyp4a32	A	G	4: 115,468,520 (GRCm39)	Y334C	probably damaging	Het
Dmxl2	C	A	9: 54,273,698 (GRCm39)		probably benign	Het
Eps8	C	T	6: 137,456,064 (GRCm39)	A806T	probably benign	Het
Evl	A	G	12: 108,614,678 (GRCm39)	N24S	possibly damaging	Het
Fbxo15	T	C	18: 84,980,847 (GRCm39)		probably null	Het
Gm14179	A	T	11: 99,634,019 (GRCm39)			Het
Hepacam2	A	G	6: 3,483,568 (GRCm39)	V147A	possibly damaging	Het
Jmjd1c	C	A	10: 67,061,115 (GRCm39)	P1156Q	possibly damaging	Het
Mab21l3	A	T	3: 101,730,624 (GRCm39)	V205E	probably damaging	Het
Mad2l1	T	C	6: 66,512,951 (GRCm39)	I28T	probably damaging	Het
Minar2	T	A	18: 59,205,347 (GRCm39)	M45K	probably damaging	Het
Mroh9	T	A	1: 162,908,145 (GRCm39)	I2F	probably benign	Het
Msr1	A	T	8: 40,068,788 (GRCm39)	I302K	probably benign	Het
Msrb3	C	T	10: 120,685,906 (GRCm39)	V80I	possibly damaging	Het
Ncf4	A	G	15: 78,145,219 (GRCm39)	D269G	probably damaging	Het
Nsl1	T	A	1: 190,803,398 (GRCm39)	H156Q	probably benign	Het
Nutm1	T	C	2: 112,078,669 (GRCm39)	D1082G	probably benign	Het
Or6c216	T	A	10: 129,678,416 (GRCm39)	D165V	probably damaging	Het
Or7g20	T	A	9: 18,946,650 (GRCm39)	V77D	possibly damaging	Het
Orc4	T	C	2: 48,807,296 (GRCm39)	I212V	probably null	Het
Pde6c	A	G	19: 38,128,488 (GRCm39)	I184V	probably benign	Het
Pfkfb3	A	T	2: 11,493,589 (GRCm39)	F129Y	probably damaging	Het
Ppp3cb	T	C	14: 20,551,622 (GRCm39)	D493G	probably benign	Het
Psg29	A	G	7: 16,942,707 (GRCm39)	Y236C	probably damaging	Het
Pzp	C	T	6: 128,471,662 (GRCm39)		probably benign	Het
Semp2l2b	A	T	10: 21,942,826 (GRCm39)	W385R	probably damaging	Het
Sgf29	T	A	7: 126,271,025 (GRCm39)	V180E	probably damaging	Het
Sh3bp4	A	G	1: 89,071,266 (GRCm39)		probably benign	Het
Slc39a2	A	T	14: 52,132,620 (GRCm39)	T188S	probably benign	Het
Slc6a13	G	T	6: 121,310,323 (GRCm39)	M327I	probably benign	Het
Slitrk6	T	A	14: 110,987,226 (GRCm39)	H827L	probably benign	Het
Thumpd2	T	G	17: 81,361,884 (GRCm39)	K114T	probably benign	Het
Tnfrsf19	A	T	14: 61,210,987 (GRCm39)	C234S	possibly damaging	Het
Tns2	A	G	15: 102,019,375 (GRCm39)	D446G	probably damaging	Het
Tpm4	A	G	8: 72,898,547 (GRCm39)	E137G	probably damaging	Het
Ttn	G	A	2: 76,625,901 (GRCm39)	R13307C	probably damaging	Het
Ubqln3	A	G	7: 103,791,725 (GRCm39)	S122P	probably benign	Het
Ubr5	T	C	15: 38,008,991 (GRCm39)	D1080G	probably benign	Het
Ulk4	A	T	9: 120,981,373 (GRCm39)	L886*	probably null	Het
Unc80	T	C	1: 66,594,112 (GRCm39)	S1164P	possibly damaging	Het
Uspl1	T	C	5: 149,141,114 (GRCm39)	V371A	possibly damaging	Het
Virma	T	C	4: 11,494,804 (GRCm39)	V35A	probably damaging	Het
Zfp787	A	T	7: 6,135,297 (GRCm39)	I318N	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
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