Mutagenetix > Incidental Mutation

Incidental Mutation 'R3904:Zfp518a'

309121

Institutional Source

Beutler Lab

Gene Symbol

Zfp518a

Ensembl Gene

ENSMUSG00000049164

Gene Name

zinc finger protein 518A

Synonyms

6330417C12Rik, Zfp518, 2810401C22Rik

MMRRC Submission

040812-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40883149-40906391 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 40903364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1098 (Q1098*)

Ref Sequence

ENSEMBL: ENSMUSP00000055956 (fasta)

Gene Model

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

AlphaFold

B2RRF6

Predicted Effect

probably null
Transcript: ENSMUST00000050092
AA Change: Q1098*

SMART Domains

Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: Q1098*

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

Meta Mutation Damage Score

0.9664

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,772,400 (GRCm39)	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,919,467 (GRCm39)	S96P	probably damaging	Het
Acot4	A	G	12: 84,090,101 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,598,660 (GRCm39)	D1631G	probably benign	Het
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,484,439 (GRCm39)	F1175S	probably damaging	Het
Ano4	A	G	10: 88,860,867 (GRCm39)	F337S	probably damaging	Het
Bub1	A	C	2: 127,663,862 (GRCm39)	I207S	probably benign	Het
Cfap53	T	A	18: 74,440,445 (GRCm39)	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Esp3	A	T	17: 40,946,820 (GRCm39)	T48S	possibly damaging	Het
Fmo1	G	T	1: 162,661,337 (GRCm39)	N315K	possibly damaging	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Impg1	A	G	9: 80,252,867 (GRCm39)	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,648,246 (GRCm39)	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,129,512 (GRCm39)		noncoding transcript	Het
Mrm3	A	G	11: 76,135,112 (GRCm39)	M108V	probably benign	Het
Mtf2	T	A	5: 108,228,866 (GRCm39)	F61I	probably damaging	Het
Nat10	A	T	2: 103,556,592 (GRCm39)		probably benign	Het
Or2y10	T	C	11: 49,455,585 (GRCm39)	I279T	possibly damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Pcgf5	T	C	19: 36,417,495 (GRCm39)	I140T	probably damaging	Het
Pfpl	T	C	19: 12,407,801 (GRCm39)	L684P	probably benign	Het
Psmd10	T	C	X: 139,850,052 (GRCm39)	*152W	probably null	Het
Ptpn23	A	C	9: 110,218,313 (GRCm39)	M600R	probably benign	Het
Pxmp4	C	T	2: 154,429,969 (GRCm39)	R140H	probably damaging	Het
Rnf112	T	C	11: 61,341,211 (GRCm39)	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Shld2	A	G	14: 33,981,666 (GRCm39)	W491R	probably damaging	Het
Slc46a3	C	T	5: 147,823,264 (GRCm39)	E193K	probably benign	Het
Snap23	A	C	2: 120,429,815 (GRCm39)	D209A	possibly damaging	Het
Tg	C	T	15: 66,638,011 (GRCm39)	Q656*	probably null	Het
Tshz2	A	G	2: 169,726,307 (GRCm39)	Y301C	probably damaging	Het
Ttn	T	A	2: 76,670,638 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,678,455 (GRCm39)	Q2011*	probably null	Het
Vwa3a	A	G	7: 120,358,099 (GRCm39)	T57A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTGCTCAGAGAATACATTGCC -3'
(R):5'- TTTCTGGAATGAGGATGCAGAG -3'

Sequencing Primer
(F):5'- TCAGAGAATACATTGCCATTGAAAGG -3'
(R):5'- GCTAGCTGAAAGATTATTAAAAGCAC -3'

Posted On

2015-04-17