Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Zfp518a'

272781

Institutional Source

Beutler Lab

Gene Symbol

Zfp518a

Ensembl Gene

ENSMUSG00000049164

Gene Name

zinc finger protein 518A

Synonyms

6330417C12Rik, 2810401C22Rik, Zfp518

MMRRC Submission

040757-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40894705-40917947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40915310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1228 (V1228F)

Ref Sequence

ENSEMBL: ENSMUSP00000055956 (fasta)

Gene Model

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

AlphaFold

B2RRF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000050092
AA Change: V1228F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: V1228F

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

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
9130011E15Rik	A	G	19: 45,921,610		probably benign	Het
Adamts17	A	G	7: 66,839,914		probably null	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Alppl2	A	G	1: 87,088,354		probably null	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Clec14a	G	A	12: 58,267,909	A309V	probably benign	Het
Clk2	A	G	3: 89,175,689	N424S	probably benign	Het
Cops7a	C	T	6: 124,959,832	R252H	probably damaging	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,767,737	D521E	probably benign	Het
Dnm2	T	C	9: 21,505,487	V772A	probably benign	Het
Dst	G	T	1: 34,181,915	V2267F	probably benign	Het
Eif3d	A	G	15: 77,968,569	F4S	probably damaging	Het
Fgfr1	G	A	8: 25,572,437	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,586,418	Y5170H	probably damaging	Het
Kcna2	T	A	3: 107,105,590	L496I	probably benign	Het
Krt8	T	C	15: 101,999,442	I233V	probably benign	Het
Mfap1b	A	G	2: 121,473,905	V3A	probably benign	Het
Phrf1	C	T	7: 141,259,918	R243*	probably null	Het
Plbd2	A	T	5: 120,492,868	I224N	probably damaging	Het
Rab19	T	C	6: 39,384,041	V41A	probably benign	Het
Rrm1	T	A	7: 102,465,703		probably null	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,549,571	V818A	probably benign	Het
Shprh	C	T	10: 11,178,757	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,616,681	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,598,751		probably benign	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slc5a1	A	G	5: 33,152,652	D408G	probably damaging	Het
Spag6l	A	T	16: 16,763,052	I477N	probably damaging	Het
Srgap1	A	G	10: 122,047,132	V21A	probably benign	Het
Trim7	A	G	11: 48,845,670		probably null	Het
Trpa1	T	C	1: 14,893,264	N578S	possibly damaging	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	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
IGL02547: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
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

Predicted Primers

PCR Primer
(F):5'- AACCAACTGTACATGGAGAGC -3'
(R):5'- TGGACATCTTCAGCACTAGCC -3'

Sequencing Primer
(F):5'- GCAGAAAGAGCCAGAAACTTC -3'
(R):5'- ATTCAATGTTGACTTTTTCCTTGGAG -3'

Posted On

2015-03-25