Mutagenetix > Incidental Mutations

Incidental Mutation 'R4506:Zfp276'

332020

Institutional Source

Beutler Lab

Gene Symbol

Zfp276

Ensembl Gene

ENSMUSG00000001065

Gene Name

zinc finger protein (C2H2 type) 276

Synonyms

D8Ertd370e, D8Ertd377e

MMRRC Submission

041584-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123254195-123269745 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 123264927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001092] [ENSMUST00000035495] [ENSMUST00000127664] [ENSMUST00000154450]

AlphaFold

Q8CE64

Predicted Effect

probably null
Transcript: ENSMUST00000001092

SMART Domains

Protein: ENSMUSP00000001092
Gene: ENSMUSG00000001065

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:zf-AD	79	159	1.2e-13	PFAM
low complexity region	402	422	N/A	INTRINSIC
ZnF_C2H2	434	458	2.24e-3	SMART
ZnF_C2H2	465	490	6.67e-2	SMART
ZnF_C2H2	496	518	1.38e-3	SMART
ZnF_C2H2	524	546	1.82e-3	SMART
ZnF_C2H2	554	577	4.79e-3	SMART
low complexity region	586	602	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035495

SMART Domains

Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	78	100	N/A	INTRINSIC
Pfam:Fanconi_A_N	167	520	3.7e-146	PFAM
low complexity region	645	660	N/A	INTRINSIC
low complexity region	778	790	N/A	INTRINSIC
low complexity region	1069	1079	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
Pfam:Fanconi_A	1246	1308	8.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147312

Predicted Effect

probably null
Transcript: ENSMUST00000154450

SMART Domains

Protein: ENSMUSP00000119771
Gene: ENSMUSG00000001065

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:zf-AD	79	159	1.9e-14	PFAM
low complexity region	183	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211934

Predicted Effect

probably benign
Transcript: ENSMUST00000213090

Meta Mutation Damage Score

0.9597

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,261	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Atr	T	A	9: 95,865,237	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cnot6l	A	T	5: 96,086,174	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603		probably null	Het
Fgfr3	A	G	5: 33,729,999	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Map3k13	A	G	16: 21,922,178	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883		probably benign	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695	C143*	probably null	Het
Parp4	T	A	14: 56,652,304	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Ric8a	A	G	7: 140,858,516	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc7a5	A	T	8: 121,887,495		probably null	Het
Slc7a9	A	T	7: 35,453,420	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372		probably null	Het
Trpv3	A	G	11: 73,295,324	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,308,819	V137M	probably damaging	Het
Zfp90	C	T	8: 106,424,864	P403L	possibly damaging	Het

Other mutations in Zfp276

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Zfp276	APN	8	123258337	missense	probably benign	0.01
IGL02573:Zfp276	APN	8	123264997	missense	probably damaging	1.00
IGL02729:Zfp276	APN	8	123267816	missense	probably damaging	1.00
IGL02956:Zfp276	APN	8	123254744	missense	probably damaging	1.00
IGL03019:Zfp276	APN	8	123267934	missense	probably damaging	1.00
R0087:Zfp276	UTSW	8	123265047	missense	probably damaging	1.00
R0386:Zfp276	UTSW	8	123259503	nonsense	probably null
R1084:Zfp276	UTSW	8	123254723	missense	probably damaging	0.99
R4199:Zfp276	UTSW	8	123267825	missense	probably damaging	1.00
R4584:Zfp276	UTSW	8	123268406	utr 3 prime	probably benign
R4776:Zfp276	UTSW	8	123254884	missense	probably benign
R4985:Zfp276	UTSW	8	123267907	missense	probably damaging	1.00
R5017:Zfp276	UTSW	8	123264977	unclassified	probably benign
R5018:Zfp276	UTSW	8	123264977	unclassified	probably benign
R5115:Zfp276	UTSW	8	123264977	unclassified	probably benign
R5116:Zfp276	UTSW	8	123264977	unclassified	probably benign
R5412:Zfp276	UTSW	8	123255781	missense	probably damaging	1.00
R5436:Zfp276	UTSW	8	123265282	unclassified	probably benign
R5822:Zfp276	UTSW	8	123255718	missense	probably benign
R6059:Zfp276	UTSW	8	123267823	missense	probably damaging	1.00
R6186:Zfp276	UTSW	8	123255933	nonsense	probably null
R6947:Zfp276	UTSW	8	123254904	missense	probably benign
R6975:Zfp276	UTSW	8	123256831	nonsense	probably null
R7313:Zfp276	UTSW	8	123267823	missense	probably damaging	1.00
R9055:Zfp276	UTSW	8	123258370	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGAGTCAACTGCAAGC -3'
(R):5'- ATTTAAGCAAGGGGCCGACTC -3'

Sequencing Primer
(F):5'- CTCTGGTAAGAAGAGCGA -3'
(R):5'- CTTTGGGAAGCCTGCACATG -3'

Posted On

2015-07-21