Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Zfp513'

571020

Institutional Source

Beutler Lab

Gene Symbol

Zfp513

Ensembl Gene

ENSMUSG00000043059

Gene Name

zinc finger protein 513

Synonyms

D430028M17Rik

MMRRC Submission

045443-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31356325-31359647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31357132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 387 (P387S)

Ref Sequence

ENSEMBL: ENSMUSP00000110238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031032] [ENSMUST00000031562] [ENSMUST00000114590] [ENSMUST00000200730] [ENSMUST00000201231] [ENSMUST00000201535] [ENSMUST00000201679] [ENSMUST00000201968] [ENSMUST00000202124] [ENSMUST00000202294] [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 damaging
Transcript: ENSMUST00000031562
AA Change: P385S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
AA Change: P385S

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: P387S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
AA Change: P387S

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

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: 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: 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: 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: 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: 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

0.8905

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	T	2: 155,845,787 (GRCm39)	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,297,821 (GRCm39)	K233I	probably damaging	Het
Aldh1l2	T	C	10: 83,350,408 (GRCm39)	M320V	possibly damaging	Het
C2cd3	A	G	7: 100,079,310 (GRCm39)	N838S		Het
Cacna1s	T	C	1: 135,998,759 (GRCm39)	F218S	probably damaging	Het
Carmil3	G	T	14: 55,728,590 (GRCm39)		probably benign	Het
Cd300a	A	T	11: 114,784,153 (GRCm39)	T54S	probably benign	Het
Celf3	G	A	3: 94,387,637 (GRCm39)	E70K	probably damaging	Het
Celsr1	A	C	15: 85,914,715 (GRCm39)	M1086R	probably benign	Het
Ces2f	G	A	8: 105,676,595 (GRCm39)	M96I	probably benign	Het
Chrdl2	G	A	7: 99,678,414 (GRCm39)	V329I	probably benign	Het
Ctc1	T	A	11: 68,925,568 (GRCm39)	L1035Q	probably benign	Het
Dbi	A	G	1: 120,047,623 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,882,568 (GRCm39)	I405T	probably benign	Het
Dpp4	A	T	2: 62,217,421 (GRCm39)	W59R	probably benign	Het
Dsg3	T	A	18: 20,672,840 (GRCm39)	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,387,308 (GRCm39)	V229A	probably benign	Het
Fermt3	T	C	19: 6,980,211 (GRCm39)	T395A	probably benign	Het
Focad	A	T	4: 88,147,572 (GRCm39)	I404F	probably benign	Het
Gm8104	T	C	14: 42,959,068 (GRCm39)	I86T	probably damaging	Het
Gm9857	A	C	3: 108,847,478 (GRCm39)	L95R	unknown	Het
Hoxa1	A	T	6: 52,133,929 (GRCm39)	S266T	probably benign	Het
Kif19b	A	G	5: 140,480,806 (GRCm39)	R979G	possibly damaging	Het
Leng8	T	A	7: 4,147,932 (GRCm39)	Y625*	probably null	Het
Mast3	A	G	8: 71,237,503 (GRCm39)	V557A	probably damaging	Het
Morc1	T	C	16: 48,442,953 (GRCm39)	F813L	probably benign	Het
Ntf3	T	A	6: 126,078,961 (GRCm39)	I182F	probably damaging	Het
Nup153	G	T	13: 46,870,642 (GRCm39)	A91E	probably benign	Het
Or13l2	G	C	3: 97,317,971 (GRCm39)	N175K	probably damaging	Het
Or52h1	A	T	7: 103,828,978 (GRCm39)	D212E	probably damaging	Het
Pamr1	G	A	2: 102,417,049 (GRCm39)	W120*	probably null	Het
Pcsk1	A	G	13: 75,274,079 (GRCm39)	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,622,857 (GRCm39)	K1451E	probably benign	Het
Pebp4	G	A	14: 70,285,864 (GRCm39)	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,247,138 (GRCm39)	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Ppic	T	C	18: 53,544,139 (GRCm39)	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 94,895,424 (GRCm39)	V704A	probably benign	Het
Pramel6	G	T	2: 87,340,856 (GRCm39)	R396L	not run	Het
Prss48	A	T	3: 85,904,528 (GRCm39)	D223E	probably damaging	Het
Psd3	T	C	8: 68,574,149 (GRCm39)	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,169,608 (GRCm39)	K780E	probably damaging	Het
Retreg1	A	T	15: 25,972,029 (GRCm39)	D323V	probably damaging	Het
Samd11	A	T	4: 156,340,067 (GRCm39)		probably null	Het
Sec14l3	T	A	11: 4,020,127 (GRCm39)	F188Y	probably benign	Het
Serpina5	A	T	12: 104,069,639 (GRCm39)	T284S	possibly damaging	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Sis	A	T	3: 72,832,404 (GRCm39)	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,113,930 (GRCm39)	I456V	probably benign	Het
Snx14	A	T	9: 88,286,369 (GRCm39)	C393S	possibly damaging	Het
Stil	T	C	4: 114,871,423 (GRCm39)		probably null	Het
Sult6b1	A	G	17: 79,202,059 (GRCm39)	S148P	probably damaging	Het
Sycp2	G	T	2: 178,045,597 (GRCm39)		probably null	Het
Tesmin	T	C	19: 3,447,042 (GRCm39)	I273T	probably benign	Het
Tmem39a	T	A	16: 38,406,592 (GRCm39)	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,041,781 (GRCm39)	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,349,687 (GRCm39)	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,840,810 (GRCm39)		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,840,811 (GRCm39)		probably benign	Het
Usp18	T	C	6: 121,230,808 (GRCm39)	I79T	possibly damaging	Het
Usp9y	A	T	Y: 1,333,656 (GRCm39)	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,536 (GRCm39)	V607E	probably damaging	Het
Vwa8	G	A	14: 79,275,641 (GRCm39)	R808K	probably null	Het
Zfp248	A	G	6: 118,406,618 (GRCm39)	Y324H	probably damaging	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
R3027:Zfp513	UTSW	5	31,356,673 (GRCm39)	missense	possibly damaging	0.73
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
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'- TTGTCACCAGAGTGGATGC -3'
(R):5'- CAGAGCTACTGTTCCCTTGG -3'

Sequencing Primer
(F):5'- CGACCATGACGCTTGAGGTTG -3'
(R):5'- GAGCTACTGTTCCCTTGGACCTG -3'

Posted On

2019-09-13