Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Zfp513'

234803

Institutional Source

Beutler Lab

Gene Symbol

Zfp513

Ensembl Gene

ENSMUSG00000043059

Gene Name

zinc finger protein 513

Synonyms

D430028M17Rik

MMRRC Submission

040159-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R2156 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

31356325-31359647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31357866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 169 (T169I)

Ref Sequence

ENSEMBL: ENSMUSP00000031562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031032] [ENSMUST00000031562] [ENSMUST00000114590] [ENSMUST00000200730] [ENSMUST00000202124] [ENSMUST00000201968] [ENSMUST00000201407] [ENSMUST00000201231] [ENSMUST00000202294] [ENSMUST00000201535] [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: T169I

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
AA Change: T169I

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

probably benign
Transcript: ENSMUST00000114590
AA Change: T171I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
AA Change: T171I

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: ENSMUST00000200778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202032

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: 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: ENSMUST00000201407

SMART Domains

Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147

Domain	Start	End	E-Value	Type
Blast:PP2Cc	1	155	4e-87	BLAST
low complexity region	156	173	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: 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: 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

noncoding transcript
Transcript: ENSMUST00000202743

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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 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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,963,703 (GRCm39)	K428E	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Iqca1	A	G	1: 90,017,238 (GRCm39)	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Kl	A	G	5: 150,912,425 (GRCm39)	K725E	probably benign	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
P2rx1	T	C	11: 72,904,939 (GRCm39)	M369T	probably benign	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Pold1	A	T	7: 44,188,542 (GRCm39)	V475E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	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
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
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'- TGGAGCACAGCATCGAAAGC -3'
(R):5'- TGAAGTTGAGGAACCAGCC -3'

Sequencing Primer
(F):5'- CAGCATCGAAAGCCACAGGTTG -3'
(R):5'- AACCAGCCAGGGGTCCAG -3'

Posted On

2014-10-01