Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Zfp560'

535757

Institutional Source

Beutler Lab

Gene Symbol

Zfp560

Ensembl Gene

ENSMUSG00000045519

Gene Name

zinc finger protein 560

Synonyms

2310030G09Rik

MMRRC Submission

044963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6863 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20256432-20296473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20259795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 356 (V356F)

Ref Sequence

ENSEMBL: ENSMUSP00000065620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068079] [ENSMUST00000143992]

AlphaFold

Q3URI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068079
AA Change: V356F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065620
Gene: ENSMUSG00000045519
AA Change: V356F

Domain	Start	End	E-Value	Type
KRAB	41	101	3.22e-27	SMART
low complexity region	147	158	N/A	INTRINSIC
ZnF_C2H2	279	301	4.01e-5	SMART
ZnF_C2H2	307	329	9.58e-3	SMART
ZnF_C2H2	335	357	5.5e-3	SMART
ZnF_C2H2	363	385	9.58e-3	SMART
ZnF_C2H2	391	413	3.74e-5	SMART
ZnF_C2H2	419	441	2.43e-4	SMART
ZnF_C2H2	447	469	1.28e-3	SMART
ZnF_C2H2	475	497	1.06e-4	SMART
ZnF_C2H2	503	525	3.11e-2	SMART
ZnF_C2H2	531	553	8.47e-4	SMART
ZnF_C2H2	559	581	2.99e-4	SMART
ZnF_C2H2	587	609	4.24e-4	SMART
ZnF_C2H2	615	637	3.44e-4	SMART
ZnF_C2H2	643	665	1.26e-2	SMART
ZnF_C2H2	671	693	1.69e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143992

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,277,627 (GRCm39)	Y278*	probably null	Het
Agap3	A	T	5: 24,657,461 (GRCm39)	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,657,462 (GRCm39)	Y86*	probably null	Het
Ahnak	T	C	19: 8,989,729 (GRCm39)		probably benign	Het
Arhgap45	G	T	10: 79,853,616 (GRCm39)	E43D	probably benign	Het
Cacna1d	A	C	14: 29,797,809 (GRCm39)	I1426S	probably damaging	Het
Calhm5	C	A	10: 33,968,451 (GRCm39)	A201S	probably benign	Het
Cdkn2a	T	C	4: 89,193,003 (GRCm39)	E159G	probably benign	Het
Cep85l	C	A	10: 53,225,214 (GRCm39)	W125L	probably damaging	Het
Ces1g	C	T	8: 94,043,647 (GRCm39)	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,584,929 (GRCm39)	A21V	possibly damaging	Het
Ctsc	T	A	7: 87,951,486 (GRCm39)	Y243*	probably null	Het
Ctu1	A	G	7: 43,326,046 (GRCm39)	E235G	probably damaging	Het
Degs2	T	C	12: 108,668,457 (GRCm39)	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,137,351 (GRCm39)	F235L	probably damaging	Het
Dpp8	T	C	9: 64,942,290 (GRCm39)	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,618,614 (GRCm39)	I3288T	probably benign	Het
Ebpl	A	T	14: 61,597,751 (GRCm39)	L30Q	probably damaging	Het
Eif1ad15	T	C	12: 88,287,968 (GRCm39)	Y95C	probably damaging	Het
Etaa1	T	A	11: 17,903,794 (GRCm39)	M1L	probably benign	Het
Etl4	A	G	2: 20,811,120 (GRCm39)	T1068A	probably benign	Het
Eya1	C	A	1: 14,341,199 (GRCm39)		probably null	Het
Fat1	G	T	8: 45,497,501 (GRCm39)	V4329L	probably damaging	Het
Fras1	A	T	5: 96,691,165 (GRCm39)	Q127L	probably benign	Het
Gm1110	T	G	9: 26,792,360 (GRCm39)	Y590S	probably damaging	Het
Gm14410	G	A	2: 176,885,860 (GRCm39)	Q135*	probably null	Het
Greb1	A	T	12: 16,734,421 (GRCm39)	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,182,854 (GRCm39)	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,618,029 (GRCm39)	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif17	T	A	4: 137,997,195 (GRCm39)	Y139*	probably null	Het
Klhl2	A	T	8: 65,275,743 (GRCm39)	N53K	probably benign	Het
Lrit2	G	T	14: 36,793,901 (GRCm39)	G322C	probably damaging	Het
Macir	T	C	1: 97,574,030 (GRCm39)	T12A	probably benign	Het
Matcap1	T	C	8: 106,012,435 (GRCm39)	D4G	probably damaging	Het
Mgam	A	T	6: 40,705,943 (GRCm39)	Q4L	probably benign	Het
Mst1r	A	G	9: 107,797,225 (GRCm39)	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mydgf	C	A	17: 56,490,789 (GRCm39)	V35L	probably damaging	Het
Nmt2	T	A	2: 3,306,341 (GRCm39)		probably null	Het
Or10s1	A	G	9: 39,986,110 (GRCm39)	Y173C	probably damaging	Het
Or52ad1	C	T	7: 102,996,123 (GRCm39)	C4Y	possibly damaging	Het
Pik3r2	T	C	8: 71,223,058 (GRCm39)	Y454C	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,437,206 (GRCm39)	S50T	probably benign	Het
Scaf11	T	C	15: 96,317,300 (GRCm39)	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163 (GRCm39)	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,264,001 (GRCm39)	K239E	probably damaging	Het
Slc44a4	T	A	17: 35,142,798 (GRCm39)	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,684,107 (GRCm39)	Y288*	probably null	Het
Sptbn1	T	C	11: 30,096,777 (GRCm39)	M267V	possibly damaging	Het
Taok2	C	T	7: 126,471,109 (GRCm39)	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,397,030 (GRCm39)	I819F	probably damaging	Het
Themis2	A	T	4: 132,516,907 (GRCm39)	W198R	probably damaging	Het
Timd4	C	G	11: 46,706,270 (GRCm39)	S24*	probably null	Het
Tnrc18	T	C	5: 142,800,952 (GRCm39)	D2G	probably damaging	Het
Wdr35	A	G	12: 9,040,047 (GRCm39)	D384G	probably damaging	Het

Other mutations in Zfp560

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Zfp560	APN	9	20,260,104 (GRCm39)	missense	probably benign	0.00
IGL02400:Zfp560	APN	9	20,261,896 (GRCm39)	missense	possibly damaging	0.73
R0002:Zfp560	UTSW	9	20,258,813 (GRCm39)	missense	probably damaging	1.00
R0004:Zfp560	UTSW	9	20,259,263 (GRCm39)	missense	probably damaging	1.00
R0019:Zfp560	UTSW	9	20,259,656 (GRCm39)	missense	probably benign	0.23
R1401:Zfp560	UTSW	9	20,263,149 (GRCm39)	missense	possibly damaging	0.71
R1481:Zfp560	UTSW	9	20,260,086 (GRCm39)	missense	probably benign
R1521:Zfp560	UTSW	9	20,260,071 (GRCm39)	splice site	probably null
R1569:Zfp560	UTSW	9	20,260,011 (GRCm39)	missense	possibly damaging	0.83
R1579:Zfp560	UTSW	9	20,259,287 (GRCm39)	missense	possibly damaging	0.73
R1673:Zfp560	UTSW	9	20,258,949 (GRCm39)	missense	probably benign	0.37
R1694:Zfp560	UTSW	9	20,259,282 (GRCm39)	nonsense	probably null
R1796:Zfp560	UTSW	9	20,263,226 (GRCm39)	missense	possibly damaging	0.71
R2971:Zfp560	UTSW	9	20,260,240 (GRCm39)	missense	probably benign	0.00
R3416:Zfp560	UTSW	9	20,258,974 (GRCm39)	nonsense	probably null
R4182:Zfp560	UTSW	9	20,258,744 (GRCm39)	missense	probably benign	0.11
R4509:Zfp560	UTSW	9	20,260,019 (GRCm39)	missense	probably damaging	1.00
R4708:Zfp560	UTSW	9	20,263,214 (GRCm39)	missense	possibly damaging	0.85
R4735:Zfp560	UTSW	9	20,260,347 (GRCm39)	missense	probably benign	0.01
R4937:Zfp560	UTSW	9	20,259,263 (GRCm39)	missense	probably damaging	1.00
R5562:Zfp560	UTSW	9	20,261,883 (GRCm39)	nonsense	probably null
R6597:Zfp560	UTSW	9	20,259,297 (GRCm39)	missense	probably benign	0.00
R6852:Zfp560	UTSW	9	20,259,339 (GRCm39)	missense	probably damaging	0.99
R7267:Zfp560	UTSW	9	20,259,384 (GRCm39)	missense	probably damaging	0.96
R7619:Zfp560	UTSW	9	20,260,206 (GRCm39)	missense	probably benign	0.01
R7763:Zfp560	UTSW	9	20,258,619 (GRCm39)	missense	possibly damaging	0.96
R8220:Zfp560	UTSW	9	20,260,348 (GRCm39)	missense	probably benign	0.00
R8356:Zfp560	UTSW	9	20,260,231 (GRCm39)	missense	probably benign	0.25
R8858:Zfp560	UTSW	9	20,260,403 (GRCm39)	missense	probably benign	0.12
R8992:Zfp560	UTSW	9	20,260,895 (GRCm39)	missense	probably benign
Z1176:Zfp560	UTSW	9	20,259,000 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGACACTCGAAGGGCTTCTC -3'
(R):5'- TTTTAGTCCAGCCTTGAGTCATG -3'

Sequencing Primer
(F):5'- CAGTGATCACATTCAAAGGGTCTCTC -3'
(R):5'- CAGCCTTGAGTCATGCTGAGAG -3'

Posted On

2018-10-18