Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Zfp982'

446752

Institutional Source

Beutler Lab

Gene Symbol

Zfp982

Ensembl Gene

ENSMUSG00000078496

Gene Name

zinc finger protein 982

Synonyms

Gm13152

Accession Numbers

Essential gene?

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

Stock #

R5777 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

147576874-147597943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147595321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 48 (N48Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101346 (fasta)

Gene Model

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

AlphaFold

A2A8Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063704
AA Change: N48Y

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

SMART Domains

Protein: ENSMUSP00000068021
Gene: ENSMUSG00000078496
AA Change: N48Y

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 damaging
Transcript: ENSMUST00000105721
AA Change: N48Y

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

SMART Domains

Protein: ENSMUSP00000101346
Gene: ENSMUSG00000078496
AA Change: N48Y

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Amph	A	T	13: 19,230,186 (GRCm39)	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,882,522 (GRCm39)	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548 (GRCm39)	I306F	probably benign	Het
Cobll1	A	T	2: 64,933,612 (GRCm39)	M460K	probably benign	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,433,227 (GRCm39)	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,511,664 (GRCm39)	H618R	probably benign	Het
Dhx38	C	A	8: 110,283,534 (GRCm39)	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,001,733 (GRCm39)	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,167,604 (GRCm39)	L51P	probably damaging	Het
Gm4781	C	T	10: 100,232,831 (GRCm39)		noncoding transcript	Het
Gm5134	C	A	10: 75,840,594 (GRCm39)	F479L	probably benign	Het
H2bc27	A	G	11: 58,839,835 (GRCm39)	K24E	probably benign	Het
Hexa	T	G	9: 59,468,243 (GRCm39)	V290G	probably damaging	Het
Ifi206	C	T	1: 173,308,928 (GRCm39)	R356K	possibly damaging	Het
Kcnj12	G	A	11: 60,961,277 (GRCm39)	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,285,869 (GRCm39)	I3774N	probably damaging	Het
Msh4	C	A	3: 153,569,076 (GRCm39)	M832I	probably benign	Het
Myh10	A	G	11: 68,676,685 (GRCm39)	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,490,963 (GRCm39)	C32*	probably null	Het
Nos2	A	G	11: 78,830,978 (GRCm39)	E387G	probably null	Het
Or4f58	C	T	2: 111,851,876 (GRCm39)	G108R	probably damaging	Het
Or55b10	A	G	7: 102,143,178 (GRCm39)	V268A	probably benign	Het
Or5h27	T	A	16: 59,006,266 (GRCm39)	L193F	unknown	Het
Or7a36	A	C	10: 78,820,512 (GRCm39)	D296A	possibly damaging	Het
Or7g29	A	T	9: 19,287,014 (GRCm39)	H54Q	probably benign	Het
Or8j3c	A	G	2: 86,253,669 (GRCm39)	V117A	probably benign	Het
P3h3	T	C	6: 124,832,921 (GRCm39)	T211A	probably benign	Het
Pcdh7	A	G	5: 57,876,856 (GRCm39)	N137S	probably damaging	Het
Pgf	T	C	12: 85,216,148 (GRCm39)	T157A	possibly damaging	Het
Prex1	T	C	2: 166,428,579 (GRCm39)	D714G	probably damaging	Het
Scn7a	T	C	2: 66,522,913 (GRCm39)	I930M	probably damaging	Het
Siglecg	T	C	7: 43,058,837 (GRCm39)	S197P	possibly damaging	Het
Skint7	T	A	4: 111,845,289 (GRCm39)	I367N	probably benign	Het
Slfn5	A	T	11: 82,851,830 (GRCm39)	D652V	probably damaging	Het
Stx1b	G	A	7: 127,410,090 (GRCm39)	Q3*	probably null	Het
Tex35	T	C	1: 156,934,777 (GRCm39)	M46V	probably benign	Het
Tkt	A	C	14: 30,280,733 (GRCm39)	T55P	possibly damaging	Het
Trim30c	T	C	7: 104,032,538 (GRCm39)	R263G	probably benign	Het
U2af2	G	A	7: 5,069,450 (GRCm39)	R33Q	probably benign	Het
Washc4	T	A	10: 83,391,469 (GRCm39)	V182D	probably damaging	Het
Xirp2	T	C	2: 67,340,348 (GRCm39)	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,263,504 (GRCm39)	H111P	probably benign	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
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
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'- GCAGCAATTTGTATCTAGAGACAC -3'
(R):5'- AGCACTGGTTACTTTTCCAAAG -3'

Sequencing Primer
(F):5'- GCTGTCTTCAGATGCACAAG -3'
(R):5'- CTTTTCCAAAGAAAGCAGAGAAATG -3'

Posted On

2016-12-15