Mutagenetix > Incidental Mutation

Incidental Mutation 'R3027:Zfp513'

265842

Institutional Source

Beutler Lab

Gene Symbol

Zfp513

Ensembl Gene

ENSMUSG00000043059

Gene Name

zinc finger protein 513

Synonyms

D430028M17Rik

MMRRC Submission

040543-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R3027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31356325-31359647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31356673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 540 (S540P)

Ref Sequence

ENSEMBL: ENSMUSP00000110238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031032] [ENSMUST00000031562] [ENSMUST00000114590] [ENSMUST00000200730] [ENSMUST00000201968] [ENSMUST00000201231] [ENSMUST00000201535] [ENSMUST00000202294] [ENSMUST00000201679] [ENSMUST00000202124] [ENSMUST00000202929]

AlphaFold

Q6PD29

Predicted Effect

probably benign
Transcript: ENSMUST00000031029

SMART Domains

Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	105	3.42e-24	SMART
B41	113	274	4.05e-2	SMART
low complexity region	324	342	N/A	INTRINSIC
low complexity region	428	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031032

SMART Domains

Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147

Domain	Start	End	E-Value	Type
PP2Cc	15	500	9.7e-103	SMART
PP2C_SIG	219	502	1.05e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031562
AA Change: S538P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
AA Change: S538P

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC
low complexity region	100	117	N/A	INTRINSIC
low complexity region	121	144	N/A	INTRINSIC
ZnF_C2H2	148	170	1.33e-1	SMART
ZnF_C2H2	176	198	2.86e-1	SMART
ZnF_C2H2	204	226	1.06e-4	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C2H2	358	380	1.03e-2	SMART
ZnF_C2H2	386	408	5.42e-2	SMART
ZnF_C2H2	414	436	2.91e-2	SMART
ZnF_C2H2	442	464	1.38e-3	SMART
ZnF_C2H2	470	492	5.06e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114590
AA Change: S540P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
AA Change: S540P

Domain	Start	End	E-Value	Type
low complexity region	37	57	N/A	INTRINSIC
low complexity region	102	119	N/A	INTRINSIC
low complexity region	123	146	N/A	INTRINSIC
ZnF_C2H2	150	172	1.33e-1	SMART
ZnF_C2H2	178	200	2.86e-1	SMART
ZnF_C2H2	206	228	1.06e-4	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	342	356	N/A	INTRINSIC
ZnF_C2H2	360	382	1.03e-2	SMART
ZnF_C2H2	388	410	5.42e-2	SMART
ZnF_C2H2	416	438	2.91e-2	SMART
ZnF_C2H2	444	466	1.38e-3	SMART
ZnF_C2H2	472	494	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200730

SMART Domains

Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	87	2.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202323

Predicted Effect

probably benign
Transcript: ENSMUST00000201968

SMART Domains

Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	80	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201231

SMART Domains

Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201535

SMART Domains

Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	23	3e-7	BLAST
PDB:3LUI\|C	1	23	3e-8	PDB
low complexity region	24	35	N/A	INTRINSIC
Blast:B41	36	169	5e-92	BLAST
PDB:4GXB\|A	36	169	4e-90	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000202294

SMART Domains

Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147

Domain	Start	End	E-Value	Type
PP2Cc	15	393	6.6e-105	SMART
PP2C_SIG	38	395	3.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201679

SMART Domains

Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Pfam:PX	6	67	2.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202124

SMART Domains

Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	31	6e-8	BLAST
PDB:3LUI\|C	1	31	4e-9	PDB
low complexity region	41	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202929

SMART Domains

Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (33/33)

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 possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,827,240 (GRCm39)	T993A	probably damaging	Het
Arhgap18	G	A	10: 26,722,092 (GRCm39)	G21D	probably benign	Het
Cluap1	T	A	16: 3,729,396 (GRCm39)	C84*	probably null	Het
Dnmt3a	T	A	12: 3,899,626 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,897,886 (GRCm39)	D146G	probably damaging	Het
Fam227a	T	C	15: 79,532,934 (GRCm39)		probably null	Het
Htt	T	A	5: 34,977,439 (GRCm39)	I775N	possibly damaging	Het
Itgax	C	A	7: 127,747,744 (GRCm39)	Y1053*	probably null	Het
Kif21a	T	A	15: 90,856,845 (GRCm39)	N583Y	probably damaging	Het
Lrp1b	T	A	2: 40,760,283 (GRCm39)	E2995V	probably benign	Het
Or1ad8	G	A	11: 50,897,879 (GRCm39)	V27M	possibly damaging	Het
Or5h22	C	T	16: 58,895,330 (GRCm39)	V38I	probably benign	Het
Or6aa1	T	C	7: 86,043,761 (GRCm39)	N315S	probably benign	Het
Or8k39	C	T	2: 86,563,930 (GRCm39)	V9M	possibly damaging	Het
Otos	A	T	1: 92,572,076 (GRCm39)	H83Q	probably damaging	Het
Pramel7	A	G	2: 87,321,747 (GRCm39)	M96T	probably benign	Het
Ptprz1	T	A	6: 23,016,196 (GRCm39)	S1680T	possibly damaging	Het
Rad50	A	G	11: 53,586,208 (GRCm39)	S263P	probably benign	Het
Resf1	T	C	6: 149,230,533 (GRCm39)	L1193P	probably benign	Het
Retreg2	A	G	1: 75,123,088 (GRCm39)	S339G	probably damaging	Het
Schip1	G	A	3: 68,401,943 (GRCm39)	A7T	probably damaging	Het
Shkbp1	A	C	7: 27,042,818 (GRCm39)	S540A	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Spag9	G	T	11: 93,977,203 (GRCm39)	R103L	probably null	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Spo11	T	C	2: 172,827,736 (GRCm39)	Y146H	probably damaging	Het
Tmem25	T	C	9: 44,709,511 (GRCm39)		probably null	Het
Ttyh1	A	G	7: 4,122,721 (GRCm39)	D23G	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp808	A	T	13: 62,319,404 (GRCm39)	H211L	probably benign	Het

Other mutations in Zfp513

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1791:Zfp513	UTSW	5	31,357,678 (GRCm39)	missense	possibly damaging	0.93
R1872:Zfp513	UTSW	5	31,357,767 (GRCm39)	missense	probably damaging	0.98
R1879:Zfp513	UTSW	5	31,357,767 (GRCm39)	missense	probably damaging	0.98
R2156:Zfp513	UTSW	5	31,357,866 (GRCm39)	missense	probably benign	0.21
R2206:Zfp513	UTSW	5	31,357,767 (GRCm39)	missense	probably damaging	0.98
R2207:Zfp513	UTSW	5	31,357,767 (GRCm39)	missense	probably damaging	0.98
R5549:Zfp513	UTSW	5	31,357,947 (GRCm39)	missense	possibly damaging	0.96
R5704:Zfp513	UTSW	5	31,358,010 (GRCm39)	missense	possibly damaging	0.83
R7163:Zfp513	UTSW	5	31,358,076 (GRCm39)	missense	probably benign	0.33
R7357:Zfp513	UTSW	5	31,357,132 (GRCm39)	missense	possibly damaging	0.93
R7456:Zfp513	UTSW	5	31,357,759 (GRCm39)	missense	possibly damaging	0.71
R7909:Zfp513	UTSW	5	31,357,906 (GRCm39)	missense	possibly damaging	0.96
R8958:Zfp513	UTSW	5	31,356,825 (GRCm39)	missense	probably damaging	0.96
R9425:Zfp513	UTSW	5	31,357,695 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATCACTTAGCTCATCTGGTACGTG -3'
(R):5'- CACTGGGACAACTACAAGCG -3'

Sequencing Primer
(F):5'- CTCATCTGGTACGTGAGCTAAGAC -3'
(R):5'- CTACAAGCGTCATCAGAAGGTGC -3'

Posted On

2015-02-05