Mutagenetix > Incidental Mutation

Incidental Mutation 'R3701:Zfp983'

258539

Institutional Source

Beutler Lab

Gene Symbol

Zfp983

Ensembl Gene

ENSMUSG00000035868

Gene Name

zinc finger protein 983

Synonyms

3110052M02Rik

MMRRC Submission

040694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R3701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21869545-21883882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 21880455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 128 (E128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039392 (fasta)

Gene Model

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

AlphaFold

E9PUT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039726
AA Change: E128Q

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

SMART Domains

Protein: ENSMUSP00000039392
Gene: ENSMUSG00000035868
AA Change: E128Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,416,864 (GRCm39)	K757T	probably damaging	Het
Akr1c19	C	T	13: 4,293,032 (GRCm39)	R263C	probably damaging	Het
Asxl1	A	G	2: 153,241,264 (GRCm39)	T605A	probably benign	Het
Cacna1i	A	T	15: 80,265,272 (GRCm39)		probably benign	Het
Clip4	A	G	17: 72,106,003 (GRCm39)	D62G	probably damaging	Het
Cstf1	A	G	2: 172,222,312 (GRCm39)	T357A	probably benign	Het
Cul5	T	C	9: 53,540,516 (GRCm39)	K499E	probably damaging	Het
Cyld	T	A	8: 89,456,179 (GRCm39)	S407T	probably benign	Het
Dnph1	G	A	17: 46,809,637 (GRCm39)	G101S	possibly damaging	Het
Entrep1	T	C	19: 23,956,831 (GRCm39)	E354G	probably benign	Het
Esp38	A	T	17: 40,266,112 (GRCm39)	R74*	probably null	Het
Fdxr	A	T	11: 115,160,527 (GRCm39)	L336Q	probably damaging	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itgb1bp2	T	C	X: 100,495,293 (GRCm39)		probably benign	Het
Kcnj5	T	C	9: 32,229,124 (GRCm39)	T25A	possibly damaging	Het
Lyn	A	G	4: 3,742,455 (GRCm39)	H28R	probably benign	Het
Nbeal1	C	T	1: 60,290,572 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Or14j3	G	A	17: 37,900,717 (GRCm39)	Q176*	probably null	Het
Or6c5c	A	T	10: 129,298,821 (GRCm39)	Y92F	probably damaging	Het
Or9i14	T	G	19: 13,792,712 (GRCm39)	I81L	probably benign	Het
Pdgfra	T	A	5: 75,340,881 (GRCm39)	Y613*	probably null	Het
Phka2	T	C	X: 159,316,045 (GRCm39)	V230A	possibly damaging	Het
Pkd2l1	A	G	19: 44,145,666 (GRCm39)	S186P	probably damaging	Het
Skic3	T	C	13: 76,261,798 (GRCm39)	I171T	probably benign	Het
Snx14	T	C	9: 88,302,296 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,064,194 (GRCm39)	V1208A	probably benign	Het
Tmf1	A	G	6: 97,149,292 (GRCm39)	F485S	possibly damaging	Het
Tnfsf4	G	A	1: 161,244,778 (GRCm39)	V156I	possibly damaging	Het
Trdn	C	A	10: 33,210,980 (GRCm39)	Q391K	probably damaging	Het
Ttc34	T	C	4: 154,949,939 (GRCm39)	F964S	probably damaging	Het
Vmn2r104	A	G	17: 20,249,818 (GRCm39)	S818P	probably damaging	Het
Zbed5	G	A	5: 129,932,000 (GRCm39)	D650N	possibly damaging	Het
Zfp446	G	A	7: 12,712,079 (GRCm39)		probably benign	Het
Zfp592	C	T	7: 80,687,159 (GRCm39)	R821*	probably null	Het
Zfp647	G	A	15: 76,795,110 (GRCm39)	R517W	probably damaging	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
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
R9285:Zfp983	UTSW	17	21,876,520 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GAGAACTATTCCACATGTGATACTG -3'
(R):5'- CACTCATGTGATTTCTCTTCAAGG -3'

Sequencing Primer
(F):5'- CTCAAAAGGAGTCTTGTCAGCG -3'
(R):5'- CAAGGTAAACTTTTTGTTGCATGAG -3'

Posted On

2015-01-23