Mutagenetix > Incidental Mutation

Incidental Mutation 'R9601:Zfp992'

726343

Institutional Source

Beutler Lab

Gene Symbol

Zfp992

Ensembl Gene

ENSMUSG00000070605

Gene Name

zinc finger protein 992

Synonyms

Gm13251

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R9601 (G1)

Quality Score

103.008

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,049,808 (GRCm38)	L246S	possibly damaging	Het
Ahcyl	A	G	16: 45,975,035 (GRCm39)	I114T	probably benign	Het
Arhgap22	C	A	14: 33,020,727 (GRCm39)	H107N	probably damaging	Het
Atp6v0a2	G	A	5: 124,790,257 (GRCm39)	G480D	probably damaging	Het
Baz2b	T	C	2: 59,731,847 (GRCm39)	T2064A	possibly damaging	Het
Bop1	T	A	15: 76,338,688 (GRCm39)	N449I	probably benign	Het
C8g	C	T	2: 25,388,916 (GRCm39)		probably null	Het
Camp	T	G	9: 109,677,504 (GRCm39)	T110P		Het
Ccdc141	T	C	2: 76,885,073 (GRCm39)	T523A	possibly damaging	Het
Ccdc157	A	T	11: 4,094,598 (GRCm39)	I578N	probably damaging	Het
Ccdc187	C	T	2: 26,143,445 (GRCm39)	A1298T	possibly damaging	Het
Cdc20	C	T	4: 118,290,716 (GRCm39)	W428*	probably null	Het
Chd9	A	T	8: 91,732,360 (GRCm39)	R1293*	probably null	Het
Clca3a1	C	T	3: 144,453,310 (GRCm39)	G505S	probably benign	Het
Clptm1	C	A	7: 19,369,763 (GRCm39)	W382C	probably damaging	Het
Cnot1	A	T	8: 96,482,835 (GRCm39)	N739K	probably benign	Het
Cntnap5a	T	C	1: 116,508,217 (GRCm39)	I1243T	probably damaging	Het
Col12a1	T	G	9: 79,525,034 (GRCm39)	D2709A	probably damaging	Het
Cpm	T	C	10: 117,511,999 (GRCm39)		probably null	Het
Ctsd	C	A	7: 141,936,373 (GRCm39)	G143C	probably damaging	Het
Cux2	A	G	5: 122,025,461 (GRCm39)	V69A	possibly damaging	Het
Cyp2c66	A	T	19: 39,175,054 (GRCm39)	I485L	probably benign	Het
Cyp4a29	T	C	4: 115,105,772 (GRCm39)	V158A	probably damaging	Het
Dbx1	A	T	7: 49,282,403 (GRCm39)	D267E	probably damaging	Het
Dop1b	A	G	16: 93,544,531 (GRCm39)	Y224C	possibly damaging	Het
Dsg3	T	A	18: 20,666,578 (GRCm39)	C596S	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,805 (GRCm39)	V1590I	possibly damaging	Het
Fgd2	G	A	17: 29,593,860 (GRCm39)	V456I	probably benign	Het
Gabra1	A	T	11: 42,026,401 (GRCm39)	I297N	probably damaging	Het
Grid1	A	G	14: 35,167,814 (GRCm39)	E446G	probably damaging	Het
H2bc12	T	C	13: 22,220,393 (GRCm39)	S113P	probably benign	Het
Hmmr	A	T	11: 40,598,210 (GRCm39)	Y667*	probably null	Het
Katnip	A	G	7: 125,442,092 (GRCm39)	Q693R	probably benign	Het
Klhl25	A	G	7: 75,515,757 (GRCm39)	D221G	probably damaging	Het
Krtcap2	T	C	3: 89,156,449 (GRCm39)		probably null	Het
Lipi	T	A	16: 75,352,706 (GRCm39)	N377I	possibly damaging	Het
Lrp2	C	A	2: 69,289,928 (GRCm39)	C3637F	probably damaging	Het
Mrgprh	T	C	17: 13,096,264 (GRCm39)	F168S	possibly damaging	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nkpd1	A	T	7: 19,257,462 (GRCm39)	I414F	probably damaging	Het
Or4c99	T	A	2: 88,330,314 (GRCm39)	M295K	probably damaging	Het
Or52z13	A	T	7: 103,246,598 (GRCm39)	D25V	probably benign	Het
Pcdhb21	A	T	18: 37,648,385 (GRCm39)	I505F	probably damaging	Het
Plxna1	C	T	6: 89,308,253 (GRCm39)	R1278Q	probably damaging	Het
Pofut2	T	C	10: 77,095,220 (GRCm39)	S22P	possibly damaging	Het
Prrc2b	C	A	2: 32,090,953 (GRCm39)	R442S	probably damaging	Het
Sema3e	T	A	5: 14,302,397 (GRCm39)	F641I	possibly damaging	Het
Sfswap	G	A	5: 129,618,463 (GRCm39)	V466I	possibly damaging	Het
Slc22a21	A	T	11: 53,850,051 (GRCm39)	V268E	possibly damaging	Het
Slc6a17	T	C	3: 107,380,930 (GRCm39)	D525G	possibly damaging	Het
Spata21	C	T	4: 140,822,467 (GRCm39)	T91I	possibly damaging	Het
Spryd7	T	G	14: 61,783,228 (GRCm39)	H98P	probably benign	Het
Sptb	G	T	12: 76,667,763 (GRCm39)	T778K	probably damaging	Het
Syne1	C	T	10: 5,209,270 (GRCm39)	R3411Q	probably benign	Het
Trank1	A	G	9: 111,202,193 (GRCm39)	I1607V	probably benign	Het
Ttll1	T	C	15: 83,380,516 (GRCm39)	D283G	probably benign	Het
Ufl1	G	A	4: 25,275,807 (GRCm39)	R199W	probably benign	Het
Vmn1r159	A	G	7: 22,542,616 (GRCm39)	S139P	probably damaging	Het
Vmn2r97	A	G	17: 19,134,770 (GRCm39)	I63V	probably benign	Het
Vps13a	T	C	19: 16,623,337 (GRCm39)	S2775G	possibly damaging	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
R4113: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
R9711:Zfp992	UTSW	4	146,551,345 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGTCTGAGGATTCATCAGAGAATTC -3'
(R):5'- ATAGGCCAAGAGTAAAGGATTCATACC -3'

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

Posted On

2022-10-06