Mutagenetix > Incidental Mutation

Incidental Mutation 'R7507:Zfp260'

581846

Institutional Source

Beutler Lab

Gene Symbol

Zfp260

Ensembl Gene

ENSMUSG00000049421

Gene Name

zinc finger protein 260

Synonyms

PEX1, Zfp63, Ozrf1

MMRRC Submission

045580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7507 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29794207-29807047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29804291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 64 (S64P)

Ref Sequence

ENSEMBL: ENSMUSP00000052200 (fasta)

Gene Model

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

AlphaFold

Q62513

Predicted Effect

probably damaging
Transcript: ENSMUST00000050735
AA Change: S64P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052200
Gene: ENSMUSG00000049421
AA Change: S64P

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 damaging
Transcript: ENSMUST00000108200
AA Change: S64P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103835
Gene: ENSMUSG00000049421
AA Change: S64P

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

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,652,177 (GRCm39)	T1359S	probably benign	Het
Adam8	C	T	7: 139,567,091 (GRCm39)		probably null	Het
Adnp2	A	G	18: 80,174,068 (GRCm39)	S114P	probably benign	Het
BC051019	T	A	7: 109,315,475 (GRCm39)	D260V	possibly damaging	Het
Btnl10	A	G	11: 58,811,384 (GRCm39)	T236A	probably benign	Het
Cacna1c	A	T	6: 119,034,200 (GRCm39)	L109Q		Het
Clint1	C	A	11: 45,799,776 (GRCm39)	Q512K	possibly damaging	Het
Dop1a	A	G	9: 86,418,002 (GRCm39)	N1957S	probably benign	Het
Gosr1	A	T	11: 76,645,240 (GRCm39)	N101K	probably benign	Het
Gria1	A	G	11: 57,119,765 (GRCm39)	T350A	probably benign	Het
Hs3st5	T	A	10: 36,709,011 (GRCm39)	V182D	probably damaging	Het
Igkv4-80	G	T	6: 68,993,677 (GRCm39)	S71R	probably benign	Het
Kif2b	A	G	11: 91,468,269 (GRCm39)	F5L	probably benign	Het
Med1	A	G	11: 98,048,852 (GRCm39)	L648P	probably damaging	Het
Mgat4a	G	A	1: 37,491,608 (GRCm39)	L375F	probably damaging	Het
Mlph	A	T	1: 90,855,429 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,274,626 (GRCm39)	S346P	probably damaging	Het
Nhlrc2	G	A	19: 56,585,810 (GRCm39)	V682I	not run	Het
Nos3	T	C	5: 24,577,642 (GRCm39)	M552T	probably damaging	Het
Or4e2	A	G	14: 52,687,930 (GRCm39)	N20S	probably benign	Het
Or5w19	T	C	2: 87,698,713 (GRCm39)	I126T	probably damaging	Het
Or6c209	T	A	10: 129,483,366 (GRCm39)	I123N	probably damaging	Het
Pcdha5	A	T	18: 37,093,909 (GRCm39)	R139S	probably benign	Het
Pik3r1	G	A	13: 101,845,490 (GRCm39)	S147L	probably benign	Het
Plppr4	T	A	3: 117,115,754 (GRCm39)	H701L	possibly damaging	Het
Pnpla1	T	C	17: 29,095,791 (GRCm39)	Y71H	probably damaging	Het
Ppp1r12c	G	A	7: 4,486,970 (GRCm39)	A521V	probably benign	Het
Rasgrp3	C	A	17: 75,804,055 (GRCm39)	D119E	probably damaging	Het
Rnf216	A	T	5: 143,075,557 (GRCm39)	D342E	probably damaging	Het
Rnpc3	A	T	3: 113,410,410 (GRCm39)	S294T	probably benign	Het
Sepsecs	A	G	5: 52,801,397 (GRCm39)	F422L	probably damaging	Het
Sgcz	T	A	8: 38,420,200 (GRCm39)	E17D	probably benign	Het
Slc2a5	T	C	4: 150,210,107 (GRCm39)	Y31H	probably damaging	Het
Spag9	A	G	11: 93,958,906 (GRCm39)	E310G	probably benign	Het
Stat4	A	G	1: 52,117,733 (GRCm39)	Y288C	probably damaging	Het
Tet1	A	G	10: 62,668,671 (GRCm39)		probably null	Het
Trim62	A	G	4: 128,790,664 (GRCm39)	T154A	probably benign	Het
Tubb4a	T	C	17: 57,388,642 (GRCm39)	D128G	probably damaging	Het
Ube3d	G	A	9: 86,304,939 (GRCm39)	A301V	possibly damaging	Het
Utp6	A	G	11: 79,833,012 (GRCm39)	S444P	possibly damaging	Het
Vasn	T	C	16: 4,467,345 (GRCm39)	C431R	probably damaging	Het
Zfp451	A	T	1: 33,808,840 (GRCm39)	M1007K	probably damaging	Het
Zfp606	C	A	7: 12,226,868 (GRCm39)	Q330K	probably benign	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
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
R9304:Zfp260	UTSW	7	29,804,279 (GRCm39)	missense	possibly damaging	0.55
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'- TCCAGTCTCAGTAGATGCTAGGAG -3'
(R):5'- TAACGGTGGTTGTCATGGGAAC -3'

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

Posted On

2019-10-17