Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Zfp266'

265587

Institutional Source

Beutler Lab

Gene Symbol

Zfp266

Ensembl Gene

ENSMUSG00000060510

Gene Name

zinc finger protein 266

Synonyms

5330440G10Rik, 5730601F06Rik

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20406364-20432713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20412240 bp (GRCm39)

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]

AlphaFold

E9Q2S7

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: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	probably damaging	Het

Other mutations in Zfp266

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4453001:Zfp266	UTSW	9	20,417,299 (GRCm39)	missense	probably benign
R0744:Zfp266	UTSW	9	20,411,095 (GRCm39)	missense	probably damaging	1.00
R0836:Zfp266	UTSW	9	20,411,095 (GRCm39)	missense	probably damaging	1.00
R2180:Zfp266	UTSW	9	20,410,975 (GRCm39)	missense	probably damaging	1.00
R2422:Zfp266	UTSW	9	20,410,558 (GRCm39)	missense	possibly damaging	0.89
R3791:Zfp266	UTSW	9	20,410,777 (GRCm39)	missense	probably damaging	0.99
R3972:Zfp266	UTSW	9	20,411,446 (GRCm39)	missense	probably damaging	1.00
R5378:Zfp266	UTSW	9	20,410,659 (GRCm39)	missense	probably damaging	1.00
R5529:Zfp266	UTSW	9	20,418,030 (GRCm39)	missense	probably damaging	0.99
R5788:Zfp266	UTSW	9	20,417,332 (GRCm39)	missense	probably damaging	0.98
R6476:Zfp266	UTSW	9	20,410,577 (GRCm39)	missense	probably damaging	1.00
R6901:Zfp266	UTSW	9	20,410,895 (GRCm39)	nonsense	probably null
R7326:Zfp266	UTSW	9	20,413,391 (GRCm39)	missense	probably benign	0.03
R7417:Zfp266	UTSW	9	20,412,232 (GRCm39)	missense	probably benign
R7783:Zfp266	UTSW	9	20,411,626 (GRCm39)	missense	probably benign	0.04
R7917:Zfp266	UTSW	9	20,416,423 (GRCm39)	missense	probably benign	0.00
R7947:Zfp266	UTSW	9	20,410,548 (GRCm39)	missense	probably benign	0.00
R8174:Zfp266	UTSW	9	20,418,110 (GRCm39)	start gained	probably benign
R8194:Zfp266	UTSW	9	20,411,610 (GRCm39)	missense	probably benign	0.05
R8776:Zfp266	UTSW	9	20,411,509 (GRCm39)	missense	probably benign	0.03
R8776-TAIL:Zfp266	UTSW	9	20,411,509 (GRCm39)	missense	probably benign	0.03
R8872:Zfp266	UTSW	9	20,411,275 (GRCm39)	missense	probably benign	0.22
R9096:Zfp266	UTSW	9	20,416,440 (GRCm39)	missense	probably damaging	1.00
R9220:Zfp266	UTSW	9	20,413,337 (GRCm39)	nonsense	probably null
R9284:Zfp266	UTSW	9	20,411,300 (GRCm39)	nonsense	probably null
R9502:Zfp266	UTSW	9	20,413,413 (GRCm39)	nonsense	probably null
R9547:Zfp266	UTSW	9	20,411,746 (GRCm39)	missense	probably benign	0.40
R9550:Zfp266	UTSW	9	20,410,482 (GRCm39)	missense	probably damaging	1.00
R9752:Zfp266	UTSW	9	20,411,496 (GRCm39)	missense	probably benign	0.15

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