Mutagenetix > Incidental Mutation

Incidental Mutation 'R2182:Zfp839'

237253

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

MMRRC Submission

040184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2182 (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 110868338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 676 (L676F)

Ref Sequence

ENSEMBL: ENSMUSP00000131841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043716] [ENSMUST00000170060] [ENSMUST00000220607] [ENSMUST00000222460]

AlphaFold

E9PUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000043716

SMART Domains

Protein: ENSMUSP00000035245
Gene: ENSMUSG00000021276

Domain	Start	End	E-Value	Type
low complexity region	54	78	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170060
AA Change: L676F

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

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: L676F

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

probably benign
Transcript: ENSMUST00000220607

Predicted Effect

probably damaging
Transcript: ENSMUST00000222460
AA Change: L600F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,422,943	H17R	probably damaging	Het
Abca15	G	A	7: 120,340,227	W281*	probably null	Het
Aloxe3	G	A	11: 69,129,600	V157M	possibly damaging	Het
Arhgap26	G	T	18: 39,357,809		probably benign	Het
Atp7b	T	C	8: 22,014,547	N698S	probably damaging	Het
Casc4	A	G	2: 121,867,428	D75G	probably damaging	Het
Clec4a4	A	G	6: 123,013,757		probably null	Het
Clgn	C	T	8: 83,410,410	T252I	possibly damaging	Het
Cyp2a12	A	T	7: 27,031,146	N179Y	probably damaging	Het
D630045J12Rik	C	T	6: 38,174,147		probably null	Het
Dennd5a	G	T	7: 109,933,994	R190S	probably benign	Het
Dtx4	C	A	19: 12,483,107	G384V	probably null	Het
Dxo	T	C	17: 34,838,892	V191A	probably benign	Het
Eprs	G	A	1: 185,379,742		probably null	Het
Fntb	A	G	12: 76,862,535	N99S	probably benign	Het
Gm5773	T	A	3: 93,773,513	I164K	probably benign	Het
Hyal5	T	C	6: 24,877,880	I325T	probably damaging	Het
Igsf8	G	A	1: 172,290,728		probably null	Het
Lamc2	A	G	1: 153,126,866	V17A	possibly damaging	Het
Lpxn	T	C	19: 12,832,758		probably null	Het
Macf1	A	G	4: 123,492,671	V1296A	probably damaging	Het
Mpdz	A	T	4: 81,348,722	L318Q	probably damaging	Het
Mpl	T	A	4: 118,457,413	Q13L	probably benign	Het
Mpnd	A	G	17: 56,015,964	S399G	probably benign	Het
Mrps5	T	C	2: 127,602,487	L347P	probably damaging	Het
Naip1	T	A	13: 100,413,680	Q1217H	probably benign	Het
Nav2	G	A	7: 49,597,254	V2176I	probably benign	Het
Olfr1341	T	C	4: 118,710,345	*313R	probably null	Het
Olfr853	T	C	9: 19,537,342	N196S	probably benign	Het
Olfr902	A	G	9: 38,449,124	N84S	probably benign	Het
Olfr957	A	T	9: 39,511,426	M98K	probably damaging	Het
Pbx2	C	A	17: 34,595,666	Y324*	probably null	Het
Pcsk7	T	A	9: 45,928,619	C702S	probably benign	Het
Pramef6	T	A	4: 143,897,190	H138L	possibly damaging	Het
Rictor	T	C	15: 6,772,204	S458P	probably damaging	Het
Rnf219	A	G	14: 104,506,176	S156P	possibly damaging	Het
Scaf4	T	C	16: 90,230,140	M905V	probably benign	Het
Scarf2	T	C	16: 17,803,022	C185R	probably damaging	Het
Scd1	T	G	19: 44,403,293	I101L	probably benign	Het
Slc6a2	A	G	8: 92,961,248	M1V	probably null	Het
Sost	T	C	11: 101,963,850	Y211C	probably damaging	Het
Sphkap	A	G	1: 83,276,684	S828P	probably damaging	Het
Tnn	T	C	1: 160,140,600		probably null	Het
Tnrc18	T	C	5: 142,760,061	K1319R	unknown	Het
Vmn2r60	A	G	7: 42,195,507	T765A	probably benign	Het
Vmn2r91	C	A	17: 18,105,429	T103K	possibly damaging	Het
Zbtb44	T	C	9: 31,066,676	C429R	possibly damaging	Het
Zc3h4	G	A	7: 16,422,516	G327D	unknown	Het
Zfp292	A	G	4: 34,807,417	C1876R	probably damaging	Het
Zg16	A	G	7: 127,050,372	L139P	probably damaging	Het
Zscan12	A	G	13: 21,368,791	I262V	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
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
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
R9289:Zfp839	UTSW	12	110868444	missense	probably benign	0.04
R9606:Zfp839	UTSW	12	110868342	missense	probably benign
R9668:Zfp839	UTSW	12	110855846	missense	probably damaging	0.98
R9686:Zfp839	UTSW	12	110855498	missense	probably damaging	1.00
Z1177:Zfp839	UTSW	12	110866784	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAACTATTCAGGCTCTGACCC -3'
(R):5'- TGATTAGTCTCCCTGAGGGCTC -3'

Sequencing Primer
(F):5'- AGGCTCTGACCCTGCAG -3'
(R):5'- CTGCATTTTCAGACTCTCTAAACAAC -3'

Posted On

2014-10-02