Mutagenetix > Incidental Mutation

Incidental Mutation 'R4308:Zfp983'

324115

Institutional Source

Beutler Lab

Gene Symbol

Zfp983

Ensembl Gene

ENSMUSG00000035868

Gene Name

zinc finger protein 983

Synonyms

3110052M02Rik

MMRRC Submission

041659-MU

Accession Numbers

Essential gene?

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

Stock #

R4308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21869545-21883882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21881124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 351 (I351V)

Ref Sequence

ENSEMBL: ENSMUSP00000039392 (fasta)

Gene Model

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

AlphaFold

E9PUT0

Predicted Effect

probably benign
Transcript: ENSMUST00000039726
AA Change: I351V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039392
Gene: ENSMUSG00000035868
AA Change: I351V

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,588,311 (GRCm39)	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Asap2	T	C	12: 21,279,482 (GRCm39)	I426T	probably damaging	Het
Ascc1	T	G	10: 59,849,434 (GRCm39)	H108Q	probably benign	Het
Bod1l	A	T	5: 41,949,156 (GRCm39)	S2989T	possibly damaging	Het
Cfap157	G	A	2: 32,669,054 (GRCm39)	R350W	probably damaging	Het
Cyp39a1	T	A	17: 44,041,855 (GRCm39)		probably null	Het
Dars2	A	G	1: 160,869,291 (GRCm39)	S653P	probably damaging	Het
Fancm	A	T	12: 65,173,305 (GRCm39)	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,423 (GRCm39)	C205*	probably null	Het
Gsdmc2	A	G	15: 63,720,554 (GRCm39)		probably benign	Het
Il31	A	G	5: 123,618,769 (GRCm39)	S6P	probably damaging	Het
Iqca1	T	C	1: 90,072,619 (GRCm39)	K87R	probably damaging	Het
Kif15	T	G	9: 122,843,047 (GRCm39)	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,158,690 (GRCm39)	A653T	unknown	Het
Lamb1	T	C	12: 31,379,254 (GRCm39)	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,142,586 (GRCm39)	R353S	probably benign	Het
Mical2	C	A	7: 111,931,199 (GRCm39)	L721I	probably benign	Het
Myo1b	T	C	1: 51,922,268 (GRCm39)	K37E	probably benign	Het
Myo5b	A	G	18: 74,864,811 (GRCm39)	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,343,584 (GRCm39)	A470T	possibly damaging	Het
Obi1	T	A	14: 104,717,029 (GRCm39)	N448I	probably damaging	Het
Or12e13	T	C	2: 87,663,614 (GRCm39)	I77T	probably damaging	Het
Or14j10	C	T	17: 37,934,627 (GRCm39)	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,399,714 (GRCm39)	D555V	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rbm20	A	G	19: 53,831,691 (GRCm39)	S642G	probably damaging	Het
Rnf144b	A	G	13: 47,396,418 (GRCm39)	N252D	probably damaging	Het
Rwdd2b	A	T	16: 87,233,615 (GRCm39)	W162R	probably damaging	Het
Scaf11	A	G	15: 96,344,396 (GRCm39)	M19T	probably benign	Het
Sft2d2	A	G	1: 165,015,833 (GRCm39)	I45T	probably benign	Het
Skint5	A	T	4: 113,341,164 (GRCm39)	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Tasor2	A	C	13: 3,619,498 (GRCm39)	S2244R	probably damaging	Het
Ubr4	T	C	4: 139,199,820 (GRCm39)	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,508,268 (GRCm39)	Y285*	probably null	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	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
R3701:Zfp983	UTSW	17	21,880,455 (GRCm39)	missense	probably damaging	1.00
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'- ATCCTATAACCGGTGTGCAAATCT -3'
(R):5'- TGAGTAAAGGACTTGTCACATTCCAT -3'

Sequencing Primer
(F):5'- GTGGAAAGTCATTTCGTCAAACCTCC -3'
(R):5'- GGACTTGTCACATTCCATACATTTG -3'

Posted On

2015-06-24