Mutagenetix > Incidental Mutation

Incidental Mutation 'R4401:Zfp986'

326622

Institutional Source

Beutler Lab

Gene Symbol

Zfp986

Ensembl Gene

ENSMUSG00000078500

Gene Name

zinc finger protein 986

Synonyms

Gm13235

MMRRC Submission

041132-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R4401 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

145595364-145626545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145625513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 58 (R58C)

Ref Sequence

ENSEMBL: ENSMUSP00000116281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123460] [ENSMUST00000166629]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000123460
AA Change: R58C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116281
Gene: ENSMUSG00000078500
AA Change: R58C

Domain	Start	End	E-Value	Type
KRAB	13	76	4.74e-16	SMART
ZnF_C2H2	240	262	2.61e-4	SMART
ZnF_C2H2	268	290	9.73e-4	SMART
ZnF_C2H2	296	318	7.78e-3	SMART
ZnF_C2H2	324	346	7.49e-5	SMART
ZnF_C2H2	352	374	2.79e-4	SMART
ZnF_C2H2	380	400	1.41e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166629

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,752,390 (GRCm39)	I454V	possibly damaging	Het
Acvr2a	A	G	2: 48,789,714 (GRCm39)	T486A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atad2b	T	A	12: 4,990,145 (GRCm39)	C157S	probably damaging	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Cct2	A	G	10: 116,893,714 (GRCm39)	I287T	possibly damaging	Het
Cntn4	A	G	6: 106,466,625 (GRCm39)	T176A	possibly damaging	Het
Cracd	G	A	5: 76,996,763 (GRCm39)	V74I	probably damaging	Het
Cyp2c54	T	C	19: 40,060,615 (GRCm39)	N122S	probably benign	Het
Cytip	T	C	2: 58,023,947 (GRCm39)	D291G	probably benign	Het
Eef1d	C	T	15: 75,774,769 (GRCm39)	V213I	probably benign	Het
Fnbp4	A	G	2: 90,577,102 (GRCm39)	T145A	possibly damaging	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gm11937	C	T	11: 99,500,901 (GRCm39)	V39M	probably damaging	Het
Gm6712	C	T	17: 17,538,366 (GRCm39)		noncoding transcript	Het
Hira	A	G	16: 18,744,470 (GRCm39)	I352V	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Lpcat2	T	C	8: 93,599,683 (GRCm39)	V217A	possibly damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Or2a25	G	T	6: 42,889,260 (GRCm39)	E268*	probably null	Het
Or4k35	A	G	2: 111,100,178 (GRCm39)	F178S	probably damaging	Het
Or51f5	C	T	7: 102,424,006 (GRCm39)	R92*	probably null	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Rfng	A	T	11: 120,673,306 (GRCm39)	V245E	possibly damaging	Het
Rpf2	A	G	10: 40,112,124 (GRCm39)	V104A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,155 (GRCm39)	H616N	probably benign	Het
Slc66a1	T	C	4: 139,033,854 (GRCm39)	I22V	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Srgap1	T	C	10: 121,640,826 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,405 (GRCm39)	Y2854*	probably null	Het

Other mutations in Zfp986

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Zfp986	UTSW	4	145,625,928 (GRCm39)	missense	probably benign	0.01
PIT4142001:Zfp986	UTSW	4	145,625,513 (GRCm39)	missense	probably benign
R0126:Zfp986	UTSW	4	145,625,513 (GRCm39)	missense	probably benign
R1835:Zfp986	UTSW	4	145,625,805 (GRCm39)	missense	probably benign	0.00
R3926:Zfp986	UTSW	4	145,619,090 (GRCm39)	splice site	probably benign
R4287:Zfp986	UTSW	4	145,619,088 (GRCm39)	critical splice donor site	probably null
R6517:Zfp986	UTSW	4	145,625,870 (GRCm39)	missense	probably benign	0.30
R7836:Zfp986	UTSW	4	145,625,691 (GRCm39)	missense	possibly damaging	0.50
R8108:Zfp986	UTSW	4	145,625,875 (GRCm39)	missense	probably benign	0.02
R8738:Zfp986	UTSW	4	145,625,550 (GRCm39)	missense	probably benign	0.04
R9153:Zfp986	UTSW	4	145,626,030 (GRCm39)	missense	probably damaging	1.00
R9210:Zfp986	UTSW	4	145,625,798 (GRCm39)	missense	probably benign	0.01
R9212:Zfp986	UTSW	4	145,625,798 (GRCm39)	missense	probably benign	0.01
R9235:Zfp986	UTSW	4	145,625,759 (GRCm39)	missense	probably benign	0.09
R9326:Zfp986	UTSW	4	145,626,451 (GRCm39)	missense	probably damaging	1.00
R9691:Zfp986	UTSW	4	145,626,070 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GGTTCTTCTGAGGATACATGTAATG -3'
(R):5'- GCAAACTTCTTTAGTGTTCCTGG -3'

Sequencing Primer
(F):5'- CTGAGGATACATGTAATGATTCACAG -3'
(R):5'- AGTGTTCCTGGGCTTAAGTC -3'

Posted On

2015-07-07