Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Zfp260'

517926

Institutional Source

Beutler Lab

Gene Symbol

Zfp260

Ensembl Gene

ENSMUSG00000049421

Gene Name

zinc finger protein 260

Synonyms

Zfp63, PEX1, Ozrf1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30094777-30107622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30104810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 45 (H45L)

Ref Sequence

ENSEMBL: ENSMUSP00000103835 (fasta)

Gene Model

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

AlphaFold

Q62513

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050735
AA Change: H45L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052200
Gene: ENSMUSG00000049421
AA Change: H45L

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: H45L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103835
Gene: ENSMUSG00000049421
AA Change: H45L

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

noncoding transcript
Transcript: ENSMUST00000116939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123095

Predicted Effect

probably benign
Transcript: ENSMUST00000130526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182136

Meta Mutation Damage Score

0.7676

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly damaging	Het

Other mutations in Zfp260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1739:Zfp260	UTSW	7	30104806	missense	probably benign	0.04
R2143:Zfp260	UTSW	7	30105340	missense	probably damaging	1.00
R2144:Zfp260	UTSW	7	30105340	missense	probably damaging	1.00
R2145:Zfp260	UTSW	7	30105340	missense	probably damaging	1.00
R2400:Zfp260	UTSW	7	30104701	missense	possibly damaging	0.83
R3802:Zfp260	UTSW	7	30105079	missense	probably benign	0.01
R5250:Zfp260	UTSW	7	30104967	missense	probably damaging	1.00
R6313:Zfp260	UTSW	7	30104842	missense	possibly damaging	0.86
R7369:Zfp260	UTSW	7	30105325	missense	probably damaging	1.00
R7507:Zfp260	UTSW	7	30104866	missense	probably damaging	0.99
R7920:Zfp260	UTSW	7	30105592	nonsense	probably null
R8531:Zfp260	UTSW	7	30105459	missense	probably damaging	1.00
R8868:Zfp260	UTSW	7	30105489	nonsense	probably null
R9304:Zfp260	UTSW	7	30104854	missense	possibly damaging	0.55
R9372:Zfp260	UTSW	7	30104807	missense	probably benign	0.15
R9443:Zfp260	UTSW	7	30104824	missense	probably benign	0.00
R9579:Zfp260	UTSW	7	30105683	missense
Z1186:Zfp260	UTSW	7	30105038	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTACTTAGTGAATGTGGCAAAGC -3'
(R):5'- GATTCACTGGGTCTCTCTTCGG -3'

Sequencing Primer
(F):5'- AATGTGGCAAAGCTTTCGTCCAG -3'
(R):5'- CGGTATGTTGTTTCTGATGAGAAAG -3'

Posted On

2018-05-24