Mutagenetix > Incidental Mutations

Incidental Mutation 'R1406:Zfp839'

160396

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110850253-110869996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110866310 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 554 (T554M)

Ref Sequence

ENSEMBL: ENSMUSP00000131841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170060] [ENSMUST00000222460]

Predicted Effect

probably damaging
Transcript: ENSMUST00000170060
AA Change: T554M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: T554M

Domain	Start	End	E-Value	Type
low complexity region	271	278	N/A	INTRINSIC
ZnF_C2H2	295	320	3.02e0	SMART
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222460
AA Change: T478M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.2%
20x: 76.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,512,749	T733A	probably benign	Het
Antxrl	A	G	14: 34,073,042	N476D	possibly damaging	Het
Armc8	G	T	9: 99,523,248	P268Q	probably benign	Het
Asb8	C	A	15: 98,136,423	G84C	probably damaging	Het
BC027072	T	C	17: 71,749,161	N1174D	probably benign	Het
BC035044	A	T	6: 128,885,084		probably null	Het
Caprin1	A	G	2: 103,775,987	F303L	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Ctdspl2	G	A	2: 122,006,868	R371Q	probably damaging	Het
Dctn4	T	A	18: 60,556,330	D431E	probably benign	Het
Dhx40	T	C	11: 86,797,745	E284G	probably benign	Het
Dhx9	A	G	1: 153,464,938	V652A	probably damaging	Het
Fnip2	G	T	3: 79,508,091	N213K	possibly damaging	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Itch	A	G	2: 155,206,354	E546G	possibly damaging	Het
Map3k20	A	T	2: 72,389,494	I257F	probably damaging	Het
Mdc1	C	T	17: 35,853,532	T1324I	probably benign	Het
Mertk	T	C	2: 128,771,486	I474T	probably benign	Het
Nav3	A	G	10: 109,883,634	V156A	possibly damaging	Het
Nbea	A	G	3: 56,037,281	V554A	probably benign	Het
Olfr1308	A	G	2: 111,960,581	V164A	probably benign	Het
Olfr157	C	T	4: 43,835,582	V303M	possibly damaging	Het
Olfr419	T	A	1: 174,250,861	E22V	possibly damaging	Het
Pask	A	G	1: 93,321,651	Y676H	probably benign	Het
Rab32	A	G	10: 10,550,893	V103A	probably damaging	Het
Rp1	T	C	1: 4,351,921	E262G	possibly damaging	Het
Rtn4	A	G	11: 29,708,236	T797A	probably benign	Het
Sall1	A	T	8: 89,032,444	I344K	probably benign	Het
Scnn1b	T	C	7: 121,902,544		probably null	Het
Slc7a2	G	T	8: 40,905,585	G322W	probably damaging	Het
Snx29	A	G	16: 11,399,793	M153V	probably benign	Het
Sp110	T	G	1: 85,579,079	E421A	probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Ush1c	A	C	7: 46,225,541		probably null	Het
Vmn2r8	C	T	5: 108,802,368	M204I	probably benign	Het

Other mutations in Zfp839

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Zfp839	APN	12	110865007	critical splice donor site	probably null
IGL00941:Zfp839	APN	12	110860948	missense	probably damaging	1.00
R0013:Zfp839	UTSW	12	110868386	missense	possibly damaging	0.66
R0013:Zfp839	UTSW	12	110868386	missense	possibly damaging	0.66
R0109:Zfp839	UTSW	12	110860874	missense	possibly damaging	0.92
R0116:Zfp839	UTSW	12	110858769	intron	probably benign
R1219:Zfp839	UTSW	12	110868273	missense	possibly damaging	0.63
R1406:Zfp839	UTSW	12	110866310	missense	probably damaging	0.99
R1434:Zfp839	UTSW	12	110860899	missense	probably benign	0.08
R1653:Zfp839	UTSW	12	110855250	missense	probably benign	0.02
R1754:Zfp839	UTSW	12	110855457	missense	probably damaging	0.98
R2182:Zfp839	UTSW	12	110868338	missense	probably damaging	1.00
R3765:Zfp839	UTSW	12	110855163	missense	probably benign	0.22
R3981:Zfp839	UTSW	12	110866331	missense	probably damaging	0.97
R4756:Zfp839	UTSW	12	110855201	missense	possibly damaging	0.92
R5088:Zfp839	UTSW	12	110868176	missense	probably damaging	0.99
R5394:Zfp839	UTSW	12	110855586	missense	probably benign	0.05
R5619:Zfp839	UTSW	12	110864036	missense	probably damaging	1.00
R6856:Zfp839	UTSW	12	110866761	nonsense	probably null
R7661:Zfp839	UTSW	12	110868792	missense	probably benign	0.32
R7860:Zfp839	UTSW	12	110855626	missense	probably damaging	1.00
R8022:Zfp839	UTSW	12	110855098	missense	probably damaging	1.00
R8855:Zfp839	UTSW	12	110868414	missense	probably benign	0.06
R8866:Zfp839	UTSW	12	110868414	missense	probably benign	0.06
R8896:Zfp839	UTSW	12	110868843	missense	probably damaging	1.00
Z1177:Zfp839	UTSW	12	110866784	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGCTCGCTCACAAAACAGTGC -3'
(R):5'- TGGGACGACCCACAAAATATGTGAC -3'

Sequencing Primer
(F):5'- ACTGTTTCCCTTCAGGTTGC -3'
(R):5'- cacacagacaacaaccacatag -3'

Posted On

2014-03-14