Mutagenetix > Incidental Mutation

Incidental Mutation 'R9285:Zfp983'

703885

Institutional Source

Beutler Lab

Gene Symbol

Zfp983

Ensembl Gene

ENSMUSG00000035868

Gene Name

zinc finger protein 983

Synonyms

3110052M02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9285 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

21869545-21883882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21876520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 8 (M8K)

Ref Sequence

ENSEMBL: ENSMUSP00000039392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039726]

AlphaFold

E9PUT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039726
AA Change: M8K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039392
Gene: ENSMUSG00000035868
AA Change: M8K

Domain	Start	End	E-Value	Type
KRAB	13	73	2.42e-22	SMART
ZnF_C2H2	185	207	5.5e-3	SMART
ZnF_C2H2	213	235	5.14e-3	SMART
ZnF_C2H2	241	263	4.54e-4	SMART
ZnF_C2H2	269	291	7.9e-4	SMART
ZnF_C2H2	297	319	2.86e-1	SMART
ZnF_C2H2	325	347	6.88e-4	SMART
ZnF_C2H2	353	375	1.95e-3	SMART
ZnF_C2H2	381	403	1.04e-3	SMART
ZnF_C2H2	409	431	2.79e-4	SMART
ZnF_C2H2	437	459	3.63e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,526,756 (GRCm39)	T1085K	probably benign	Het
Asxl3	A	T	18: 22,654,989 (GRCm39)	I1000F	probably damaging	Het
Atp2c2	A	G	8: 120,465,141 (GRCm39)	M308V	probably benign	Het
Chd3	G	T	11: 69,249,954 (GRCm39)	R736S	possibly damaging	Het
Chst9	T	A	18: 15,586,017 (GRCm39)	H182L	probably damaging	Het
Cnot1	A	G	8: 96,452,746 (GRCm39)	F2112S	probably damaging	Het
Csmd1	A	T	8: 15,956,088 (GRCm39)	L3373H	probably damaging	Het
Ctsll3	T	A	13: 60,946,402 (GRCm39)	D303V	probably benign	Het
Cyp7b1	T	A	3: 18,151,564 (GRCm39)	K216N	probably damaging	Het
Dock9	A	C	14: 121,833,012 (GRCm39)	F1315V	probably benign	Het
Eme2	T	C	17: 25,108,132 (GRCm39)		probably benign	Het
Eml2	A	G	7: 18,925,568 (GRCm39)	I222M	probably damaging	Het
Ggcx	T	A	6: 72,395,402 (GRCm39)	Y164*	probably null	Het
Gm20939	T	C	17: 95,184,188 (GRCm39)	F279L	probably damaging	Het
Gm44511	T	C	6: 128,777,017 (GRCm39)		probably benign	Het
Gprin1	A	G	13: 54,886,523 (GRCm39)	S584P	probably damaging	Het
Ighv2-2	A	T	12: 113,551,903 (GRCm39)	Y112N	probably damaging	Het
Kansl3	T	C	1: 36,383,148 (GRCm39)		probably benign	Het
Kcnu1	T	A	8: 26,381,611 (GRCm39)	I449K	probably damaging	Het
Lima1	T	C	15: 99,678,687 (GRCm39)	R585G	probably damaging	Het
Lrrk2	T	A	15: 91,662,686 (GRCm39)	V1905E	probably damaging	Het
Map3k6	T	A	4: 132,972,870 (GRCm39)	V343E	probably damaging	Het
Mei1	T	C	15: 81,985,170 (GRCm39)	F279S		Het
Mgat3	A	G	15: 80,096,538 (GRCm39)	D455G	probably damaging	Het
Mycbp2	T	A	14: 103,434,753 (GRCm39)	Q2230L	probably damaging	Het
Myog	T	C	1: 134,218,895 (GRCm39)	F179S	possibly damaging	Het
Nlrc5	A	C	8: 95,199,604 (GRCm39)	I72L	probably damaging	Het
Or2ag1	T	C	7: 106,472,715 (GRCm39)	T246A	probably benign	Het
Or4k2	A	C	14: 50,424,122 (GRCm39)	V185G	probably benign	Het
Or4s2b	T	A	2: 88,508,680 (GRCm39)	H153Q	probably damaging	Het
Or5k15	T	A	16: 58,710,569 (GRCm39)	K5*	probably null	Het
Or5p5	C	T	7: 107,413,821 (GRCm39)	T10I	probably damaging	Het
Pcdh18	A	G	3: 49,707,786 (GRCm39)	L895P	probably damaging	Het
Pibf1	C	T	14: 99,480,345 (GRCm39)	T707M	probably benign	Het
Ptk2b	A	T	14: 66,410,844 (GRCm39)	Y418N	possibly damaging	Het
Ptx4	T	G	17: 25,343,930 (GRCm39)	Y393*	probably null	Het
Sass6	C	A	3: 116,422,354 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,398,264 (GRCm39)	V22A	probably damaging	Het
Strc	T	C	2: 121,195,279 (GRCm39)	E1668G	probably damaging	Het
Sulf2	T	A	2: 165,935,435 (GRCm39)	H226L	probably damaging	Het
Sun5	T	C	2: 153,709,426 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,084,809 (GRCm39)		probably null	Het
Tektl1	C	A	10: 78,588,234 (GRCm39)		probably benign	Het
Xylt2	A	T	11: 94,558,536 (GRCm39)	I540N	probably benign	Het
Zfp804b	T	C	5: 6,820,723 (GRCm39)	N780S	probably benign	Het

Other mutations in Zfp983

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Zfp983	APN	17	21,876,528 (GRCm39)	critical splice donor site	probably null
IGL02492:Zfp983	APN	17	21,876,528 (GRCm39)	critical splice donor site	probably null
IGL03145:Zfp983	APN	17	21,877,924 (GRCm39)	missense	probably damaging	0.99
R0257:Zfp983	UTSW	17	21,880,356 (GRCm39)	missense	probably benign	0.35
R1518:Zfp983	UTSW	17	21,881,269 (GRCm39)	missense	probably damaging	1.00
R1925:Zfp983	UTSW	17	21,880,933 (GRCm39)	missense	probably damaging	1.00
R2504:Zfp983	UTSW	17	21,877,883 (GRCm39)	missense	probably damaging	1.00
R3701:Zfp983	UTSW	17	21,880,455 (GRCm39)	missense	probably damaging	1.00
R4308:Zfp983	UTSW	17	21,881,124 (GRCm39)	missense	probably benign	0.05
R5648:Zfp983	UTSW	17	21,877,947 (GRCm39)	missense	probably damaging	1.00
R6029:Zfp983	UTSW	17	21,881,401 (GRCm39)	missense	probably benign	0.03
R6188:Zfp983	UTSW	17	21,877,935 (GRCm39)	missense	probably damaging	1.00
R6662:Zfp983	UTSW	17	21,881,001 (GRCm39)	missense	probably damaging	1.00
R7313:Zfp983	UTSW	17	21,880,413 (GRCm39)	missense	probably damaging	0.97
R7361:Zfp983	UTSW	17	21,880,850 (GRCm39)	missense	probably damaging	1.00
R8710:Zfp983	UTSW	17	21,880,234 (GRCm39)	missense	probably damaging	0.99
R9153:Zfp983	UTSW	17	21,876,522 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGGGATCATTGACAGGATTCC -3'
(R):5'- CGTGGTAGGTAAGTACATCAAAAC -3'

Sequencing Primer
(F):5'- GGGATCATTGACAGGATTCCTCATAG -3'
(R):5'- CAGTCTCCAGAGTTTTTGTTCCAGG -3'

Posted On

2022-03-25