Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02868:Zfp683'

362390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp683

Ensembl Gene

ENSMUSG00000049410

Gene Name

zinc finger protein 683

Synonyms

Hobit

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

133781149-133786307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133783177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 214 (V214M)

Ref Sequence

ENSEMBL: ENSMUSP00000101508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105884] [ENSMUST00000219402] [ENSMUST00000227683]

AlphaFold

I7HJS4

Predicted Effect

probably benign
Transcript: ENSMUST00000105884
AA Change: V214M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101508
Gene: ENSMUSG00000049410
AA Change: V214M

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
low complexity region	150	164	N/A	INTRINSIC
low complexity region	173	192	N/A	INTRINSIC
ZnF_C2H2	301	323	5.21e-4	SMART
ZnF_C2H2	329	351	6.23e-2	SMART
ZnF_C2H2	357	379	2.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219402

Predicted Effect

probably benign
Transcript: ENSMUST00000227683

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced mature NKT cells and altered susceptibility to MCMV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap4	A	G	X: 72,944,008 (GRCm39)	I224T	probably benign	Het
Atp12a	A	G	14: 56,621,639 (GRCm39)	D758G	probably damaging	Het
Clca3b	C	A	3: 144,533,325 (GRCm39)	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,542,816 (GRCm39)	R73Q	probably damaging	Het
Efcc1	C	T	6: 87,728,743 (GRCm39)		probably benign	Het
Eno3	T	A	11: 70,552,826 (GRCm39)	V369E	probably damaging	Het
Espl1	T	A	15: 102,222,425 (GRCm39)	C1022*	probably null	Het
Grhl3	T	C	4: 135,281,915 (GRCm39)	D319G	probably damaging	Het
Huwe1	G	A	X: 150,691,829 (GRCm39)	R2538H	possibly damaging	Het
Lrrc37	A	T	11: 103,505,965 (GRCm39)	L2001H	probably benign	Het
Ms4a4d	T	A	19: 11,527,646 (GRCm39)	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,761,588 (GRCm39)	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,710,966 (GRCm39)	I133T	probably damaging	Het
Ninl	A	G	2: 150,778,974 (GRCm39)	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,194,182 (GRCm39)	S284P	probably damaging	Het
Or4k40	A	T	2: 111,250,838 (GRCm39)	F153I	possibly damaging	Het
Or5g9	A	T	2: 85,551,919 (GRCm39)	T57S	probably benign	Het
Pramel5	G	T	4: 143,997,922 (GRCm39)	N440K	probably benign	Het
Rabep1	T	C	11: 70,765,572 (GRCm39)	V12A	probably benign	Het
Rbm5	G	T	9: 107,626,899 (GRCm39)		probably benign	Het
Ric3	T	C	7: 108,653,626 (GRCm39)	E155G	probably damaging	Het
Slc12a7	T	A	13: 73,954,507 (GRCm39)	M897K	probably benign	Het
Slc39a8	G	T	3: 135,561,787 (GRCm39)	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Synrg	G	A	11: 83,877,876 (GRCm39)		probably benign	Het
Tas2r107	T	C	6: 131,636,249 (GRCm39)	T267A	probably benign	Het
Tead3	G	T	17: 28,552,069 (GRCm39)	Y354*	probably null	Het
Trim3	T	C	7: 105,262,239 (GRCm39)	K579R	possibly damaging	Het
Uaca	A	T	9: 60,770,919 (GRCm39)	K362M	probably damaging	Het
Vmn2r94	A	G	17: 18,464,316 (GRCm39)	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,665 (GRCm39)	P3113S	probably benign	Het
Zfp251	A	G	15: 76,738,734 (GRCm39)	S115P	probably damaging	Het

Other mutations in Zfp683

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4976:Zfp683	UTSW	4	133,786,190 (GRCm39)	unclassified	probably benign
R0314:Zfp683	UTSW	4	133,786,052 (GRCm39)	missense	probably benign	0.15
R0924:Zfp683	UTSW	4	133,783,138 (GRCm39)	missense	probably benign	0.00
R1679:Zfp683	UTSW	4	133,785,956 (GRCm39)	missense	possibly damaging	0.71
R1984:Zfp683	UTSW	4	133,784,766 (GRCm39)	missense	probably damaging	1.00
R2172:Zfp683	UTSW	4	133,783,106 (GRCm39)	missense	possibly damaging	0.91
R2288:Zfp683	UTSW	4	133,783,381 (GRCm39)	unclassified	probably benign
R3736:Zfp683	UTSW	4	133,784,742 (GRCm39)	missense	probably benign	0.28
R5412:Zfp683	UTSW	4	133,781,862 (GRCm39)	missense	probably damaging	1.00
R6058:Zfp683	UTSW	4	133,786,042 (GRCm39)	missense	probably damaging	1.00
R6072:Zfp683	UTSW	4	133,783,057 (GRCm39)	missense	probably benign	0.00
R7174:Zfp683	UTSW	4	133,783,064 (GRCm39)	missense	probably damaging	0.99
R7419:Zfp683	UTSW	4	133,786,211 (GRCm39)	missense	probably benign	0.02
R8867:Zfp683	UTSW	4	133,785,995 (GRCm39)	missense	probably damaging	1.00
R8978:Zfp683	UTSW	4	133,781,239 (GRCm39)	missense	probably benign	0.43
R9618:Zfp683	UTSW	4	133,782,965 (GRCm39)	missense	probably benign	0.00
RF004:Zfp683	UTSW	4	133,786,185 (GRCm39)	unclassified	probably benign
RF044:Zfp683	UTSW	4	133,786,185 (GRCm39)	unclassified	probably benign
Z1177:Zfp683	UTSW	4	133,783,382 (GRCm39)	missense	possibly damaging	0.51

Posted On

2015-12-18