Mutagenetix > Incidental Mutation

Incidental Mutation 'R4181:Zfp982'

319729

Institutional Source

Beutler Lab

Gene Symbol

Zfp982

Ensembl Gene

ENSMUSG00000078496

Gene Name

zinc finger protein 982

Synonyms

Gm13152

MMRRC Submission

041017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4181 (G1)

Quality Score

156

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

92% (48/52)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,540,279 (GRCm39)	Y1445C	probably damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Atp11b	A	G	3: 35,854,714 (GRCm39)	K284R	probably benign	Het
Atp11b	A	G	3: 35,843,707 (GRCm39)	T185A	probably damaging	Het
Bcas1	A	G	2: 170,260,547 (GRCm39)	V44A	probably benign	Het
Carmil3	G	A	14: 55,741,412 (GRCm39)	D1066N	probably benign	Het
Cfap251	T	C	5: 123,431,873 (GRCm39)	I549T	probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Clic4	A	G	4: 134,953,350 (GRCm39)	V98A	probably benign	Het
Cmpk2	T	C	12: 26,527,046 (GRCm39)	V345A	probably damaging	Het
Col6a3	A	T	1: 90,735,336 (GRCm39)	I771N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,486 (GRCm39)		probably null	Het
Cyp7a1	C	T	4: 6,271,205 (GRCm39)	G317E	probably benign	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Dnhd1	T	A	7: 105,343,161 (GRCm39)	W1502R	probably damaging	Het
Drc1	T	C	5: 30,513,057 (GRCm39)	V377A	probably benign	Het
Fyb1	A	G	15: 6,610,404 (GRCm39)	N326D	probably benign	Het
Gapdh	C	T	6: 125,142,197 (GRCm39)		probably benign	Het
Gm973	A	G	1: 59,590,399 (GRCm39)	Y302C	possibly damaging	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Gtpbp3	C	T	8: 71,944,111 (GRCm39)	T285I	probably damaging	Het
Hnrnpul1	T	C	7: 25,426,237 (GRCm39)	D538G	probably damaging	Het
Kif26b	G	A	1: 178,742,991 (GRCm39)	S582N	probably damaging	Het
Lgals4	T	C	7: 28,535,437 (GRCm39)	V107A	possibly damaging	Het
Lmbr1l	A	T	15: 98,806,601 (GRCm39)	L270Q	possibly damaging	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lpcat3	C	T	6: 124,680,187 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 40,501,446 (GRCm39)	T219I	probably damaging	Het
Man2a2	T	A	7: 80,001,487 (GRCm39)	E1140V	possibly damaging	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or7g30	C	T	9: 19,353,031 (GRCm39)	A274V	possibly damaging	Het
Or8k53	A	T	2: 86,177,581 (GRCm39)	H176Q	probably damaging	Het
Pdss1	T	C	2: 22,805,517 (GRCm39)	I265T	probably damaging	Het
Piezo2	T	C	18: 63,257,801 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,592,832 (GRCm39)	N106I	probably benign	Het
Rbbp6	A	G	7: 122,593,958 (GRCm39)	Y568C	probably damaging	Het
Rorc	G	A	3: 94,294,500 (GRCm39)	C33Y	probably damaging	Het
Ssc4d	T	C	5: 135,990,778 (GRCm39)	E470G	possibly damaging	Het
Tnxb	T	G	17: 34,928,428 (GRCm39)	V2614G	possibly damaging	Het
Trip11	A	T	12: 101,860,027 (GRCm39)	D282E	probably damaging	Het
Ttn	G	T	2: 76,706,811 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,073,097 (GRCm39)		probably benign	Het
Wiz	T	C	17: 32,586,959 (GRCm39)	E117G	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
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
R4184: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'- ACAGCCAGTACATTGTCCATGAAC -3'
(R):5'- CCTGTATGAATTCTCTGATGATCAC -3'

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

Posted On

2015-06-10