Mutagenetix > Incidental Mutation

Incidental Mutation 'R4113:Zfp992'

314498

Institutional Source

Beutler Lab

Gene Symbol

Zfp992

Ensembl Gene

ENSMUSG00000070605

Gene Name

zinc finger protein 992

Synonyms

Gm13251

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4113 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

146533487-146553897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146551976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 566 (H566Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105733]

AlphaFold

B1ASD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000105733
AA Change: H566Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101359
Gene: ENSMUSG00000070605
AA Change: H566Y

Domain	Start	End	E-Value	Type
KRAB	13	74	5.08e-16	SMART
ZnF_C2H2	240	262	4.47e-3	SMART
ZnF_C2H2	268	290	5.21e-4	SMART
ZnF_C2H2	296	318	9.08e-4	SMART
ZnF_C2H2	324	346	5.21e-4	SMART
ZnF_C2H2	352	374	7.37e-4	SMART
ZnF_C2H2	380	402	2.43e-4	SMART
ZnF_C2H2	408	430	7.37e-4	SMART
ZnF_C2H2	436	458	9.08e-4	SMART
ZnF_C2H2	464	486	7.37e-4	SMART
ZnF_C2H2	492	514	1.04e-3	SMART
ZnF_C2H2	520	542	7.49e-5	SMART
ZnF_C2H2	548	566	6.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181199

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC024139	A	G	15: 76,005,827 (GRCm39)	M458T	probably benign	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Catsper3	A	G	13: 55,934,183 (GRCm39)	K35E	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Dcaf13	T	A	15: 38,993,615 (GRCm39)	I236N	probably damaging	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnah12	T	C	14: 26,414,722 (GRCm39)	L41P	probably damaging	Het
Dnah17	T	C	11: 118,003,420 (GRCm39)	K514R	possibly damaging	Het
Dnajb12	T	A	10: 59,730,136 (GRCm39)	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Eya4	G	T	10: 23,031,849 (GRCm39)	S235Y	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gdf3	A	G	6: 122,584,016 (GRCm39)	I117T	probably damaging	Het
Gm5611	T	A	9: 16,941,989 (GRCm39)		noncoding transcript	Het
Gtf3c4	G	A	2: 28,717,567 (GRCm39)	T771I	probably damaging	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,472,714 (GRCm39)	Y234F	probably damaging	Het
Irak1bp1	T	C	9: 82,728,728 (GRCm39)	S220P	probably benign	Het
Lama1	G	A	17: 68,071,698 (GRCm39)	V862I	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Or14a258	G	A	7: 86,035,733 (GRCm39)	T45M	possibly damaging	Het
Or4b12	A	T	2: 90,096,684 (GRCm39)	L30H	probably damaging	Het
Pcdh8	T	C	14: 80,004,953 (GRCm39)	D927G	probably damaging	Het
Prelid3a	T	C	18: 67,605,967 (GRCm39)	Y25H	probably damaging	Het
Ptprm	T	C	17: 67,032,808 (GRCm39)	D1015G	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Riox2	C	T	16: 59,312,257 (GRCm39)	L465F	probably benign	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Stab1	C	T	14: 30,890,436 (GRCm39)	R5Q	probably damaging	Het
Stmn3	T	C	2: 180,949,089 (GRCm39)	K135E	possibly damaging	Het
Synj2	G	A	17: 6,058,240 (GRCm39)	G243S	probably benign	Het
Tasor	C	T	14: 27,181,918 (GRCm39)	R483*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tshz2	C	A	2: 169,727,450 (GRCm39)	P213Q	probably benign	Het
Tssk4	A	G	14: 55,887,830 (GRCm39)	T9A	probably benign	Het
Ube4a	T	A	9: 44,860,247 (GRCm39)	I272F	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Vmn2r87	T	C	10: 130,315,691 (GRCm39)	D125G	probably benign	Het
Yap1	A	T	9: 7,938,432 (GRCm39)	*358K	probably null	Het

Other mutations in Zfp992

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Zfp992	UTSW	4	146,550,464 (GRCm39)	nonsense	probably null
PIT4131001:Zfp992	UTSW	4	146,550,569 (GRCm39)	missense	probably benign	0.00
PIT4142001:Zfp992	UTSW	4	146,550,569 (GRCm39)	missense	probably benign	0.00
R1709:Zfp992	UTSW	4	146,550,949 (GRCm39)	missense	probably benign	0.00
R3711:Zfp992	UTSW	4	146,551,976 (GRCm39)	missense	probably damaging	1.00
R4081:Zfp992	UTSW	4	146,551,976 (GRCm39)	missense	probably damaging	1.00
R4821:Zfp992	UTSW	4	146,551,976 (GRCm39)	missense	probably damaging	1.00
R7709:Zfp992	UTSW	4	146,551,622 (GRCm39)	nonsense	probably null
R7839:Zfp992	UTSW	4	146,550,875 (GRCm39)	missense	probably benign	0.24
R8354:Zfp992	UTSW	4	146,551,319 (GRCm39)	missense	probably benign	0.04
R8383:Zfp992	UTSW	4	146,551,133 (GRCm39)	missense	probably benign	0.01
R9601:Zfp992	UTSW	4	146,551,976 (GRCm39)	missense	probably damaging	1.00
R9711:Zfp992	UTSW	4	146,551,345 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGTCTGAGGATTCATCAGAG -3'
(R):5'- GGCCAAGAGTAAAGGATTCATACC -3'

Sequencing Primer
(F):5'- CAGTCTGAGGATTCATCAGAGAATTC -3'
(R):5'- CTTGGTAAAGGATTGTCTCG -3'

Posted On

2015-05-14