Mutagenetix > Incidental Mutation

Incidental Mutation 'R9304:Zfp260'

705111

Institutional Source

Beutler Lab

Gene Symbol

Zfp260

Ensembl Gene

ENSMUSG00000049421

Gene Name

zinc finger protein 260

Synonyms

PEX1, Zfp63, Ozrf1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9304 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29794207-29807047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29804279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 60 (S60P)

Ref Sequence

ENSEMBL: ENSMUSP00000052200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050735] [ENSMUST00000108200] [ENSMUST00000130526]

AlphaFold

Q62513

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050735
AA Change: S60P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052200
Gene: ENSMUSG00000049421
AA Change: S60P

Domain	Start	End	E-Value	Type
ZnF_C2H2	23	45	6.78e-3	SMART
ZnF_C2H2	51	71	2.44e2	SMART
ZnF_C2H2	79	101	3.21e-4	SMART
ZnF_C2H2	131	153	5.59e-4	SMART
ZnF_C2H2	159	181	1.38e-3	SMART
ZnF_C2H2	187	209	9.88e-5	SMART
ZnF_C2H2	215	237	8.47e-4	SMART
ZnF_C2H2	243	265	1.6e-4	SMART
ZnF_C2H2	271	293	8.94e-3	SMART
ZnF_C2H2	299	321	3.21e-4	SMART
ZnF_C2H2	327	349	9.88e-5	SMART
ZnF_C2H2	355	377	1.38e-3	SMART
ZnF_C2H2	383	405	1.38e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108200
AA Change: S60P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103835
Gene: ENSMUSG00000049421
AA Change: S60P

Domain	Start	End	E-Value	Type
ZnF_C2H2	23	45	6.78e-3	SMART
ZnF_C2H2	51	71	2.44e2	SMART
ZnF_C2H2	79	101	3.21e-4	SMART
ZnF_C2H2	131	153	5.59e-4	SMART
ZnF_C2H2	159	181	1.38e-3	SMART
ZnF_C2H2	187	209	9.88e-5	SMART
ZnF_C2H2	215	237	8.47e-4	SMART
ZnF_C2H2	243	265	1.6e-4	SMART
ZnF_C2H2	271	293	8.94e-3	SMART
ZnF_C2H2	299	321	3.21e-4	SMART
ZnF_C2H2	327	349	9.88e-5	SMART
ZnF_C2H2	355	377	1.38e-3	SMART
ZnF_C2H2	383	405	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130526

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	G	3: 36,536,072 (GRCm39)	K113E	unknown	Het
4930486L24Rik	T	C	13: 61,001,352 (GRCm39)	Y125C	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam28	A	T	14: 68,874,946 (GRCm39)	Y244N	probably damaging	Het
Ap3b2	T	C	7: 81,113,019 (GRCm39)	D944G	unknown	Het
Asb2	G	A	12: 103,302,225 (GRCm39)	P108S	probably damaging	Het
Cachd1	A	G	4: 100,824,179 (GRCm39)	Y540C	possibly damaging	Het
Ccdc40	A	G	11: 119,122,597 (GRCm39)	Q63R	probably benign	Het
Cdhr5	G	A	7: 140,851,474 (GRCm39)	P610L	probably benign	Het
Cep350	T	C	1: 155,829,464 (GRCm39)	K87E	probably damaging	Het
Csmd3	T	C	15: 47,569,805 (GRCm39)	D1206G		Het
Diaph3	T	C	14: 87,328,448 (GRCm39)	E98G	possibly damaging	Het
Dmbt1	A	T	7: 130,700,855 (GRCm39)	E1185V	unknown	Het
Enpp2	C	T	15: 54,815,969 (GRCm39)	R65H	probably damaging	Het
Gapdh	A	G	6: 125,139,819 (GRCm39)	V195A	probably benign	Het
Gm14412	T	C	2: 177,007,547 (GRCm39)	D116G	probably benign	Het
Gucy2e	A	T	11: 69,126,560 (GRCm39)	D273E	probably benign	Het
Gulp1	A	T	1: 44,793,593 (GRCm39)	K85*	probably null	Het
Htra3	A	G	5: 35,836,515 (GRCm39)	V59A	probably benign	Het
Iars2	A	T	1: 185,055,400 (GRCm39)	Y244*	probably null	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Il18r1	A	G	1: 40,510,893 (GRCm39)		probably benign	Het
Mical2	A	G	7: 111,980,974 (GRCm39)	D316G	probably damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Or2ag1b	A	T	7: 106,288,880 (GRCm39)	D19E	probably benign	Het
Prob1	C	A	18: 35,787,708 (GRCm39)	G182V	probably damaging	Het
Psmb9	A	G	17: 34,406,222 (GRCm39)		probably null	Het
Pudp	T	A	18: 50,701,670 (GRCm39)	D21V	probably damaging	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Rpf2	A	G	10: 40,119,850 (GRCm39)		probably null	Het
Sbk2	A	G	7: 4,960,507 (GRCm39)	I221T	probably damaging	Het
Slc10a1	G	A	12: 81,004,957 (GRCm39)	T195I	probably benign	Het
Spata31h1	G	T	10: 82,131,930 (GRCm39)	P360Q	probably benign	Het
Speer1k	G	A	5: 10,998,949 (GRCm39)	R29Q		Het
Stom	A	G	2: 35,211,697 (GRCm39)	V108A	possibly damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trdn	G	T	10: 33,181,087 (GRCm39)		probably null	Het
Trmt61a	T	A	12: 111,647,437 (GRCm39)	V178D	possibly damaging	Het
Trpv4	C	A	5: 114,782,702 (GRCm39)	E87*	probably null	Het
Ttc6	T	C	12: 57,776,117 (GRCm39)	F1687S	probably damaging	Het
Urb2	T	C	8: 124,757,247 (GRCm39)	F985L	probably benign	Het
Vdac3	T	A	8: 23,070,568 (GRCm39)	K114N	probably damaging	Het
Zkscan4	T	A	13: 21,665,570 (GRCm39)	S182T	possibly damaging	Het

Other mutations in Zfp260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1739:Zfp260	UTSW	7	29,804,231 (GRCm39)	missense	probably benign	0.04
R2143:Zfp260	UTSW	7	29,804,765 (GRCm39)	missense	probably damaging	1.00
R2144:Zfp260	UTSW	7	29,804,765 (GRCm39)	missense	probably damaging	1.00
R2145:Zfp260	UTSW	7	29,804,765 (GRCm39)	missense	probably damaging	1.00
R2400:Zfp260	UTSW	7	29,804,126 (GRCm39)	missense	possibly damaging	0.83
R3802:Zfp260	UTSW	7	29,804,504 (GRCm39)	missense	probably benign	0.01
R5250:Zfp260	UTSW	7	29,804,392 (GRCm39)	missense	probably damaging	1.00
R6313:Zfp260	UTSW	7	29,804,267 (GRCm39)	missense	possibly damaging	0.86
R6416:Zfp260	UTSW	7	29,804,235 (GRCm39)	missense	possibly damaging	0.58
R7369:Zfp260	UTSW	7	29,804,750 (GRCm39)	missense	probably damaging	1.00
R7507:Zfp260	UTSW	7	29,804,291 (GRCm39)	missense	probably damaging	0.99
R7920:Zfp260	UTSW	7	29,805,017 (GRCm39)	nonsense	probably null
R8531:Zfp260	UTSW	7	29,804,884 (GRCm39)	missense	probably damaging	1.00
R8868:Zfp260	UTSW	7	29,804,914 (GRCm39)	nonsense	probably null
R9372:Zfp260	UTSW	7	29,804,232 (GRCm39)	missense	probably benign	0.15
R9443:Zfp260	UTSW	7	29,804,249 (GRCm39)	missense	probably benign	0.00
R9579:Zfp260	UTSW	7	29,805,108 (GRCm39)	missense
R9801:Zfp260	UTSW	7	29,804,937 (GRCm39)	missense	possibly damaging	0.49
Z1186:Zfp260	UTSW	7	29,804,463 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCAGTAGATGCTAGGAGAGAACC -3'
(R):5'- AACGGTGGTTGTCATGGGAAC -3'

Sequencing Primer
(F):5'- CCCCTGTGCAGATCAGAATGTTG -3'
(R):5'- ACGGGAGTTTTCTTAGATTCACTG -3'

Posted On

2022-03-25