Mutagenetix > Incidental Mutation

Incidental Mutation 'R8462:Zfp984'

656601

Institutional Source

Beutler Lab

Gene Symbol

Zfp984

Ensembl Gene

ENSMUSG00000078495

Gene Name

zinc finger protein 984

Synonyms

Gm13157

MMRRC Submission

067906-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R8462 (G1)

Quality Score

104.008

Status

Not validated

Chromosome

Chromosomal Location

147838431-147894245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147839796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 352 (C352R)

Ref Sequence

ENSEMBL: ENSMUSP00000114023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105734] [ENSMUST00000122309]

AlphaFold

A2A7A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000105734
AA Change: C352R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101360
Gene: ENSMUSG00000078495
AA Change: C352R

Domain	Start	End	E-Value	Type
KRAB	13	72	5.24e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.38e-3	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.3e-4	SMART
ZnF_C2H2	490	512	1.4e-4	SMART
ZnF_C2H2	518	540	4.79e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122309
AA Change: C352R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114023
Gene: ENSMUSG00000078495
AA Change: C352R

Domain	Start	End	E-Value	Type
KRAB	13	72	5.24e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.38e-3	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.3e-4	SMART
ZnF_C2H2	490	512	1.4e-4	SMART
ZnF_C2H2	518	540	4.79e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,074 (GRCm39)	V103A	possibly damaging	Het
Abcb11	T	C	2: 69,104,499 (GRCm39)	N729S	probably benign	Het
Ap2a2	T	A	7: 141,210,394 (GRCm39)	N883K	probably damaging	Het
Atr	T	C	9: 95,749,579 (GRCm39)	I464T	probably benign	Het
Atrn	T	A	2: 130,777,504 (GRCm39)	H184Q	probably damaging	Het
Bmp5	A	G	9: 75,746,874 (GRCm39)	D244G	probably benign	Het
Celsr2	C	A	3: 108,320,167 (GRCm39)	E882*	probably null	Het
Cfap58	T	A	19: 47,972,089 (GRCm39)	V673E	possibly damaging	Het
Chl1	A	G	6: 103,706,130 (GRCm39)	N1155S	probably benign	Het
Colgalt2	C	A	1: 152,378,823 (GRCm39)	H416Q	probably damaging	Het
Dab1	C	T	4: 104,561,404 (GRCm39)	L230F	probably benign	Het
Dixdc1	G	T	9: 50,622,079 (GRCm39)	S84*	probably null	Het
Dnah8	A	G	17: 30,875,603 (GRCm39)	D475G	probably damaging	Het
Egr2	T	A	10: 67,374,173 (GRCm39)	N54K	probably null	Het
Grm3	T	C	5: 9,562,365 (GRCm39)	D495G	probably benign	Het
Kif1b	G	A	4: 149,266,797 (GRCm39)	T1629I	probably benign	Het
Klf2	A	T	8: 73,073,373 (GRCm39)	N59I	probably benign	Het
Krt86	T	C	15: 101,377,284 (GRCm39)	V436A	probably benign	Het
Lrrk2	T	C	15: 91,615,680 (GRCm39)	V838A	probably benign	Het
Ltbp1	T	C	17: 75,620,069 (GRCm39)	S786P	probably damaging	Het
Matk	C	G	10: 81,097,859 (GRCm39)	R315G	probably damaging	Het
Meikin	T	C	11: 54,290,666 (GRCm39)	V249A	probably benign	Het
Mrnip	A	G	11: 50,090,654 (GRCm39)	R273G	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,446,189 (GRCm39)		probably null	Het
Pitpnm1	A	T	19: 4,155,135 (GRCm39)	H321L	probably benign	Het
Plekhm2	T	C	4: 141,367,130 (GRCm39)	Y170C	probably damaging	Het
Ralgapa1	T	C	12: 55,723,303 (GRCm39)	D2197G	possibly damaging	Het
Rmdn2	C	T	17: 79,978,053 (GRCm39)	T338M	probably damaging	Het
Rps10	A	G	17: 27,853,208 (GRCm39)	S54P	probably damaging	Het
S100a11	T	C	3: 93,433,422 (GRCm39)	S89P	probably benign	Het
Sh3yl1	T	C	12: 30,992,072 (GRCm39)	Y176H	probably damaging	Het
Sppl2c	G	T	11: 104,077,532 (GRCm39)	A111S	possibly damaging	Het
Stab2	T	C	10: 86,803,598 (GRCm39)	E317G	possibly damaging	Het
Stim1	A	G	7: 102,076,324 (GRCm39)	E425G	probably damaging	Het
Stxbp1	C	T	2: 32,707,293 (GRCm39)		probably null	Het
Traf6	G	A	2: 101,527,801 (GRCm39)	R517Q	probably damaging	Het
Ttn	A	G	2: 76,804,387 (GRCm39)	V295A	probably damaging	Het
Vps45	A	T	3: 95,941,091 (GRCm39)	D383E	possibly damaging	Het

Other mutations in Zfp984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
IGL00469:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
IGL00550:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
PIT4791001:Zfp984	UTSW	4	147,840,603 (GRCm39)	missense	probably benign	0.15
R0281:Zfp984	UTSW	4	147,839,722 (GRCm39)	missense	probably benign
R0731:Zfp984	UTSW	4	147,840,689 (GRCm39)	missense	probably damaging	1.00
R1170:Zfp984	UTSW	4	147,840,446 (GRCm39)	missense	probably benign	0.24
R1293:Zfp984	UTSW	4	147,840,398 (GRCm39)	missense	possibly damaging	0.85
R1518:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
R2041:Zfp984	UTSW	4	147,839,796 (GRCm39)	missense	probably damaging	1.00
R2360:Zfp984	UTSW	4	147,839,234 (GRCm39)	missense	possibly damaging	0.92
R5038:Zfp984	UTSW	4	147,839,903 (GRCm39)	missense	probably damaging	1.00
R5554:Zfp984	UTSW	4	147,840,362 (GRCm39)	missense	probably benign	0.00
R6254:Zfp984	UTSW	4	147,840,643 (GRCm39)	missense	possibly damaging	0.76
R6418:Zfp984	UTSW	4	147,845,703 (GRCm39)	missense	probably benign	0.00
R6527:Zfp984	UTSW	4	147,840,381 (GRCm39)	missense	probably benign	0.45
R6974:Zfp984	UTSW	4	147,845,707 (GRCm39)	start codon destroyed	possibly damaging	0.94
R7058:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
R7495:Zfp984	UTSW	4	147,839,287 (GRCm39)	missense	possibly damaging	0.94
R7843:Zfp984	UTSW	4	147,842,165 (GRCm39)	missense	probably damaging	1.00
R8520:Zfp984	UTSW	4	147,840,668 (GRCm39)	missense	probably benign	0.01
R8918:Zfp984	UTSW	4	147,840,623 (GRCm39)	missense	possibly damaging	0.88
R9387:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
Z1176:Zfp984	UTSW	4	147,839,921 (GRCm39)	missense	probably benign	0.00
Z1177:Zfp984	UTSW	4	147,840,577 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCACTGCATTTGTAAGGGTTCTCT -3'
(R):5'- CAAATGCAGTGAATGTGACAAATGTT -3'

Sequencing Primer
(F):5'- CGGGTAAAGCATTTGTCACATTCAC -3'
(R):5'- GTATGCATCAGAGAATTCATACAGG -3'

Posted On

2021-01-18