Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Zfp276'

688629

Institutional Source

Beutler Lab

Gene Symbol

Zfp276

Ensembl Gene

ENSMUSG00000001065

Gene Name

zinc finger protein (C2H2 type) 276

Synonyms

D8Ertd377e, D8Ertd370e

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123980934-123996484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123985109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 356 (F356L)

Ref Sequence

ENSEMBL: ENSMUSP00000001092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001092] [ENSMUST00000117643] [ENSMUST00000118279] [ENSMUST00000122363] [ENSMUST00000127664] [ENSMUST00000154450] [ENSMUST00000155869]

AlphaFold

Q8CE64

Predicted Effect

probably damaging
Transcript: ENSMUST00000001092
AA Change: F356L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001092
Gene: ENSMUSG00000001065
AA Change: F356L

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: ENSMUST00000117643

SMART Domains

Protein: ENSMUSP00000113748
Gene: ENSMUSG00000001062

Domain	Start	End	E-Value	Type
low complexity region	96	108	N/A	INTRINSIC
coiled coil region	187	220	N/A	INTRINSIC
low complexity region	266	279	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC
Pfam:VPS9	528	645	8.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118279

SMART Domains

Protein: ENSMUSP00000113634
Gene: ENSMUSG00000001062

Domain	Start	End	E-Value	Type
low complexity region	96	108	N/A	INTRINSIC
coiled coil region	187	220	N/A	INTRINSIC
low complexity region	266	279	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC
Pfam:VPS9	528	645	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122363

SMART Domains

Protein: ENSMUSP00000113575
Gene: ENSMUSG00000001062

Domain	Start	End	E-Value	Type
low complexity region	96	108	N/A	INTRINSIC
coiled coil region	187	220	N/A	INTRINSIC
low complexity region	266	279	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC
Pfam:VPS9	528	644	5.6e-27	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

probably benign
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

probably benign
Transcript: ENSMUST00000155869

SMART Domains

Protein: ENSMUSP00000122184
Gene: ENSMUSG00000001062

Domain	Start	End	E-Value	Type
low complexity region	96	108	N/A	INTRINSIC
coiled coil region	187	223	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	Het

Other mutations in Zfp276

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Zfp276	APN	8	123,985,076 (GRCm39)	missense	probably benign	0.01
IGL02573:Zfp276	APN	8	123,991,736 (GRCm39)	missense	probably damaging	1.00
IGL02729:Zfp276	APN	8	123,994,555 (GRCm39)	missense	probably damaging	1.00
IGL02956:Zfp276	APN	8	123,981,483 (GRCm39)	missense	probably damaging	1.00
IGL03019:Zfp276	APN	8	123,994,673 (GRCm39)	missense	probably damaging	1.00
R0087:Zfp276	UTSW	8	123,991,786 (GRCm39)	missense	probably damaging	1.00
R0386:Zfp276	UTSW	8	123,986,242 (GRCm39)	nonsense	probably null
R1084:Zfp276	UTSW	8	123,981,462 (GRCm39)	missense	probably damaging	0.99
R4199:Zfp276	UTSW	8	123,994,564 (GRCm39)	missense	probably damaging	1.00
R4506:Zfp276	UTSW	8	123,991,666 (GRCm39)	critical splice donor site	probably null
R4584:Zfp276	UTSW	8	123,995,145 (GRCm39)	utr 3 prime	probably benign
R4776:Zfp276	UTSW	8	123,981,623 (GRCm39)	missense	probably benign
R4985:Zfp276	UTSW	8	123,994,646 (GRCm39)	missense	probably damaging	1.00
R5017:Zfp276	UTSW	8	123,991,716 (GRCm39)	unclassified	probably benign
R5018:Zfp276	UTSW	8	123,991,716 (GRCm39)	unclassified	probably benign
R5115:Zfp276	UTSW	8	123,991,716 (GRCm39)	unclassified	probably benign
R5116:Zfp276	UTSW	8	123,991,716 (GRCm39)	unclassified	probably benign
R5412:Zfp276	UTSW	8	123,982,520 (GRCm39)	missense	probably damaging	1.00
R5436:Zfp276	UTSW	8	123,992,021 (GRCm39)	unclassified	probably benign
R5822:Zfp276	UTSW	8	123,982,457 (GRCm39)	missense	probably benign
R6059:Zfp276	UTSW	8	123,994,562 (GRCm39)	missense	probably damaging	1.00
R6186:Zfp276	UTSW	8	123,982,672 (GRCm39)	nonsense	probably null
R6947:Zfp276	UTSW	8	123,981,643 (GRCm39)	missense	probably benign
R6975:Zfp276	UTSW	8	123,983,570 (GRCm39)	nonsense	probably null
R7313:Zfp276	UTSW	8	123,994,562 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAATGGCCTGAATCTGAGC -3'
(R):5'- CCAGAAAGCTAAGTCAGGAGCC -3'

Sequencing Primer
(F):5'- CTGAATCTGAGCAGGAGTGAG -3'
(R):5'- TAAGTCAGGAGCCAGGGACCTC -3'

Posted On

2021-11-19