Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Zfp982'

319857

Institutional Source

Beutler Lab

Gene Symbol

Zfp982

Ensembl Gene

ENSMUSG00000078496

Gene Name

zinc finger protein 982

Synonyms

Gm13152

MMRRC Submission

041020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4184 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

147576874-147597943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147597150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 169 (K169R)

Ref Sequence

ENSEMBL: ENSMUSP00000101346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063704] [ENSMUST00000105721]

AlphaFold

A2A8Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000063704
AA Change: K169R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068021
Gene: ENSMUSG00000078496
AA Change: K169R

Domain	Start	End	E-Value	Type
KRAB	13	72	6.26e-16	SMART
ZnF_C2H2	102	124	1.68e1	SMART
ZnF_C2H2	130	152	1.82e-3	SMART
ZnF_C2H2	158	180	7.55e-1	SMART
ZnF_C2H2	186	208	8.47e-4	SMART
ZnF_C2H2	214	236	1.28e-3	SMART
ZnF_C2H2	242	264	9.73e-4	SMART
ZnF_C2H2	270	292	4.94e-5	SMART
ZnF_C2H2	298	320	5.29e-5	SMART
ZnF_C2H2	326	348	2.43e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105721
AA Change: K169R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101346
Gene: ENSMUSG00000078496
AA Change: K169R

Domain	Start	End	E-Value	Type
KRAB	13	72	6.26e-16	SMART
ZnF_C2H2	102	124	1.68e1	SMART
ZnF_C2H2	130	152	1.82e-3	SMART
ZnF_C2H2	158	180	7.55e-1	SMART
ZnF_C2H2	186	208	8.47e-4	SMART
ZnF_C2H2	214	236	1.28e-3	SMART
ZnF_C2H2	242	264	9.73e-4	SMART
ZnF_C2H2	270	292	4.94e-5	SMART
ZnF_C2H2	298	320	5.29e-5	SMART
ZnF_C2H2	326	348	2.43e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,447,858 (GRCm39)	K234*	probably null	Het
Ccdc178	A	G	18: 22,157,841 (GRCm39)	L539P	probably damaging	Het
Cd5	T	A	19: 10,698,638 (GRCm39)	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,710,041 (GRCm39)	T355I	probably damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cln8	T	C	8: 14,945,030 (GRCm39)	F115L	probably benign	Het
Cpne9	T	A	6: 113,259,418 (GRCm39)		probably benign	Het
Cyp4a32	C	T	4: 115,478,720 (GRCm39)	T484I	possibly damaging	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnah3	T	C	7: 119,682,516 (GRCm39)	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578 (GRCm39)	E249G	possibly damaging	Het
Fsbp	T	A	4: 11,584,058 (GRCm39)	N252K	probably benign	Het
Gramd1a	C	A	7: 30,831,940 (GRCm39)		probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Igsf10	C	T	3: 59,227,152 (GRCm39)	V2174M	probably damaging	Het
Kcnu1	T	C	8: 26,352,445 (GRCm39)	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,125,911 (GRCm39)	E628G	probably benign	Het
Klhl36	T	C	8: 120,601,124 (GRCm39)	M381T	probably damaging	Het
Kpna3	A	T	14: 61,605,624 (GRCm39)	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,604 (GRCm39)		probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mex3b	A	G	7: 82,519,238 (GRCm39)	R518G	probably benign	Het
Mical1	T	C	10: 41,357,866 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,748,613 (GRCm39)	S1996P	probably damaging	Het
Or11g7	A	G	14: 50,690,827 (GRCm39)	Y106C	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Otop2	T	A	11: 115,220,671 (GRCm39)	C504S	probably benign	Het
Pkhd1	T	A	1: 20,279,501 (GRCm39)	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,633,910 (GRCm39)	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,455,302 (GRCm39)	T4021I	probably benign	Het
Prr36	T	C	8: 4,263,409 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,571,300 (GRCm39)	M1T	probably null	Het
Rdx	C	A	9: 51,978,680 (GRCm39)	L163M	probably damaging	Het
Reep6	A	G	10: 80,169,648 (GRCm39)	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,568,611 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,451,393 (GRCm39)	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,703,574 (GRCm39)	T512I	probably benign	Het
Slc22a22	A	T	15: 57,119,962 (GRCm39)	C170*	probably null	Het
Slc26a2	C	T	18: 61,331,904 (GRCm39)	R509K	probably benign	Het
Slc4a10	A	G	2: 62,147,786 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,266,834 (GRCm39)		probably benign	Het
Tbc1d32	T	A	10: 56,100,676 (GRCm39)	T101S	probably benign	Het
Tsc2	T	C	17: 24,850,990 (GRCm39)	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,156,219 (GRCm39)	F174L	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfpl1	A	G	19: 6,131,170 (GRCm39)	L274P	probably damaging	Het

Other mutations in Zfp982

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Zfp982	APN	4	147,596,826 (GRCm39)	missense	probably benign
IGL02989:Zfp982	APN	4	147,597,052 (GRCm39)	missense	possibly damaging	0.47
R0035:Zfp982	UTSW	4	147,597,149 (GRCm39)	missense	probably benign	0.00
R0123:Zfp982	UTSW	4	147,597,093 (GRCm39)	missense	probably benign	0.04
R1502:Zfp982	UTSW	4	147,597,126 (GRCm39)	missense	probably benign	0.00
R1982:Zfp982	UTSW	4	147,597,049 (GRCm39)	nonsense	probably null
R4181:Zfp982	UTSW	4	147,597,150 (GRCm39)	missense	probably benign	0.00
R4182:Zfp982	UTSW	4	147,597,150 (GRCm39)	missense	probably benign	0.00
R4183:Zfp982	UTSW	4	147,597,150 (GRCm39)	missense	probably benign	0.00
R4427:Zfp982	UTSW	4	147,597,080 (GRCm39)	nonsense	probably null
R4814:Zfp982	UTSW	4	147,597,090 (GRCm39)	missense	possibly damaging	0.58
R5697:Zfp982	UTSW	4	147,597,046 (GRCm39)	missense	probably benign	0.02
R5777:Zfp982	UTSW	4	147,595,321 (GRCm39)	missense	probably damaging	1.00
R7233:Zfp982	UTSW	4	147,597,718 (GRCm39)	missense	probably benign	0.00
R8875:Zfp982	UTSW	4	147,595,320 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AGCCAGTACATTGTCCATGAACAC -3'
(R):5'- CTCCTGTATGAATTCTCTGATGATCAC -3'

Sequencing Primer
(F):5'- GGGACAAATGCTTTTCCCAAAG -3'
(R):5'- GAATTCTCTGATGATCACTAAGACTG -3'

Posted On

2015-06-10