Mutagenetix > Incidental Mutations

Incidental Mutation 'R3085:Zfp266'

265587

Institutional Source

Beutler Lab

Gene Symbol

Zfp266

Ensembl Gene

ENSMUSG00000060510

Gene Name

zinc finger protein 266

Synonyms

MMRRC Submission

040574-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20495068-20521417 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20500944 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 111 (L111P)

Ref Sequence

ENSEMBL: ENSMUSP00000134217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068296] [ENSMUST00000174462] [ENSMUST00000215908]

Predicted Effect

probably damaging
Transcript: ENSMUST00000068296
AA Change: L111P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066012
Gene: ENSMUSG00000060510
AA Change: L111P

Domain	Start	End	E-Value	Type
KRAB	41	101	1.4e-27	SMART
internal_repeat_1	138	318	2.7e-16	PROSPERO
ZnF_C2H2	343	365	7.78e-3	SMART
ZnF_C2H2	371	393	1.98e-4	SMART
ZnF_C2H2	399	421	2.27e-4	SMART
ZnF_C2H2	427	449	2.47e-5	SMART
ZnF_C2H2	455	477	2.99e-4	SMART
ZnF_C2H2	483	505	1.47e-3	SMART
ZnF_C2H2	511	533	5.81e-2	SMART
ZnF_C2H2	539	561	2.79e-4	SMART
ZnF_C2H2	567	589	2.09e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174462
AA Change: L111P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134217
Gene: ENSMUSG00000060510
AA Change: L111P

Domain	Start	End	E-Value	Type
KRAB	41	101	1.4e-27	SMART
internal_repeat_1	138	318	2.7e-16	PROSPERO
ZnF_C2H2	343	365	7.78e-3	SMART
ZnF_C2H2	371	393	1.98e-4	SMART
ZnF_C2H2	399	421	2.27e-4	SMART
ZnF_C2H2	427	449	2.47e-5	SMART
ZnF_C2H2	455	477	2.99e-4	SMART
ZnF_C2H2	483	505	1.47e-3	SMART
ZnF_C2H2	511	533	5.81e-2	SMART
ZnF_C2H2	539	561	2.79e-4	SMART
ZnF_C2H2	567	589	2.09e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180846

Predicted Effect

probably damaging
Transcript: ENSMUST00000215908
AA Change: L42P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 86,543,907		probably benign	Het
Adrm1	T	C	2: 180,174,301		probably null	Het
Aldh18a1	T	C	19: 40,574,369	I76V	probably benign	Het
Atp1b2	T	C	11: 69,602,879	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,750,966	V170A	probably damaging	Het
Cdh8	T	C	8: 99,196,386	T293A	probably benign	Het
Cenpc1	A	T	5: 86,037,617	V345D	probably benign	Het
Col4a3	A	G	1: 82,651,258	E131G	unknown	Het
Col4a4	C	T	1: 82,529,564		probably null	Het
Creb3l1	G	T	2: 91,995,444		probably null	Het
Dhx9	T	C	1: 153,465,699	D601G	probably benign	Het
Dyx1c1	T	A	9: 72,972,406	N289K	probably benign	Het
Eml6	T	C	11: 29,809,332	E807G	probably damaging	Het
Exog	C	A	9: 119,462,452	T241K	probably benign	Het
Eya1	T	C	1: 14,274,090	D109G	probably benign	Het
Fam69a	G	T	5: 107,914,424	D28E	probably damaging	Het
Fat2	C	T	11: 55,252,171	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,184,231	G130*	probably null	Het
Fcrl5	A	G	3: 87,446,464	Y372C	probably damaging	Het
Gli3	T	C	13: 15,660,941	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,891,680	R284H	probably benign	Het
Havcr1	C	T	11: 46,756,225	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,132,058	F947S	probably damaging	Het
Irx1	G	T	13: 71,963,292	A66E	probably damaging	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Kynu	A	G	2: 43,602,300	M190V	probably benign	Het
Lrp2	T	C	2: 69,467,135	T3161A	probably benign	Het
Macrod1	G	T	19: 7,196,494	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,310,932	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,349,019	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,090,007	R806H	probably benign	Het
Nags	T	A	11: 102,145,984	V133D	probably damaging	Het
Nrg3	C	A	14: 38,370,949	D560Y	probably damaging	Het
Olfr1198	A	G	2: 88,746,144	F248S	probably damaging	Het
Olfr1280	A	G	2: 111,316,116	I212M	probably benign	Het
Olfr1313	C	A	2: 112,071,975	G203*	probably null	Het
Olfr313	T	C	11: 58,817,727	S240P	probably damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pde6d	T	C	1: 86,547,526		probably null	Het
Plekhf1	T	C	7: 38,221,577	E189G	probably benign	Het
Ppm1b	A	T	17: 85,013,860	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,456,757	Q227K	possibly damaging	Het
Rnf125	T	C	18: 20,977,730	V15A	probably benign	Het
Rnps1	C	T	17: 24,412,419		probably benign	Het
Robo1	A	G	16: 73,002,010	I953V	possibly damaging	Het
Sash1	A	T	10: 8,742,422		probably null	Het
Smarcc2	T	C	10: 128,488,159		probably benign	Het
Stx12	T	A	4: 132,857,361	E224V	probably damaging	Het
Sun1	T	C	5: 139,235,601	V357A	probably benign	Het
Synpo2l	T	C	14: 20,662,180	D350G	probably damaging	Het
Tex15	A	T	8: 33,574,885	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,442,883		probably benign	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,741,615	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,883,951	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,588,815		probably null	Het
Vmn2r85	T	C	10: 130,425,212	M419V	probably benign	Het
Wdr73	G	A	7: 80,901,242		probably benign	Het
Zc3hc1	C	T	6: 30,374,764		probably null	Het
Zfhx3	T	C	8: 108,956,032	Y3368H	unknown	Het
Zfp263	G	A	16: 3,749,716	E632K	probably damaging	Het
Zfp626	T	A	7: 27,818,162	S189R	probably benign	Het
Zfp772	T	C	7: 7,203,700	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,221,079	C797Y	probably damaging	Het

Other mutations in Zfp266

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4453001:Zfp266	UTSW	9	20506003	missense	probably benign
R0744:Zfp266	UTSW	9	20499799	missense	probably damaging	1.00
R0836:Zfp266	UTSW	9	20499799	missense	probably damaging	1.00
R2180:Zfp266	UTSW	9	20499679	missense	probably damaging	1.00
R2422:Zfp266	UTSW	9	20499262	missense	possibly damaging	0.89
R3791:Zfp266	UTSW	9	20499481	missense	probably damaging	0.99
R3972:Zfp266	UTSW	9	20500150	missense	probably damaging	1.00
R5378:Zfp266	UTSW	9	20499363	missense	probably damaging	1.00
R5529:Zfp266	UTSW	9	20506734	missense	probably damaging	0.99
R5788:Zfp266	UTSW	9	20506036	missense	probably damaging	0.98
R6476:Zfp266	UTSW	9	20499281	missense	probably damaging	1.00
R6901:Zfp266	UTSW	9	20499599	nonsense	probably null
R7326:Zfp266	UTSW	9	20502095	missense	probably benign	0.03
R7417:Zfp266	UTSW	9	20500936	missense	probably benign
R7783:Zfp266	UTSW	9	20500330	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGGAGCATGCTATTCATCCC -3'
(R):5'- AAGATCACAGTTGTGCACCATTATG -3'

Sequencing Primer
(F):5'- GGAGCATGCTATTCATCCCAAGTATC -3'
(R):5'- ACAGTTGTGCACCATTATGTCTGC -3'

Posted On

2015-02-05