Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Zfp839'

675951

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110850253-110869996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110868414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 701 (E701G)

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 benign
Transcript: ENSMUST00000170060
AA Change: E701G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: E701G

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 benign
Transcript: ENSMUST00000222460
AA Change: E625G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Arhgap45	C	A	10: 80,017,916	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Dbr1	T	A	9: 99,578,444	L109*	probably null	Het
Dchs1	G	T	7: 105,755,390	N2648K	probably benign	Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dlgap1	A	T	17: 70,516,440	H140L	probably damaging	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Eloa	A	C	4: 136,010,227		probably null	Het
Epha7	A	G	4: 28,821,614	I260V	probably benign	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Fstl4	A	G	11: 53,072,406	E205G	possibly damaging	Het
Gm5592	A	T	7: 41,288,822	R509S	possibly damaging	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Hgs	A	G	11: 120,469,638	N54S	probably benign	Het
Hydin	G	A	8: 110,582,147	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Kctd4	A	G	14: 75,963,025	I145M	probably benign	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc10	T	A	10: 117,045,953	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Ndel1	A	G	11: 68,843,819		probably null	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr387-ps1	A	G	11: 73,664,999	Y130C	probably damaging	Het
Olfr392	A	T	11: 73,814,411	S224T	probably damaging	Het
Olfr644	A	T	7: 104,068,912	S40T	probably damaging	Het
Otop2	A	G	11: 115,329,528	D398G	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,695,691	D810E	probably benign	Het
Ppl	T	A	16: 5,102,347	T395S	probably benign	Het
Ptprm	G	A	17: 66,809,635	A883V	probably benign	Het
Rapgef6	G	A	11: 54,552,874		probably null	Het
Rbm12	A	T	2: 156,096,773	Y526*	probably null	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Serpinb6c	A	T	13: 33,899,326	I35N	probably damaging	Het
Setd4	A	G	16: 93,590,073	F246L	probably damaging	Het
Shank2	A	G	7: 144,411,249	S865G	probably benign	Het
Skint6	T	C	4: 112,854,453	N956D	probably benign	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Tank	T	A	2: 61,578,661	S7R	probably benign	Het
Tecpr1	T	C	5: 144,216,299	E204G	possibly damaging	Het
Tmem5	A	G	10: 122,089,048	Y250H	probably damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Tor4a	T	C	2: 25,194,953	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,513,068	D192G	probably damaging	Het
Trim29	T	C	9: 43,311,648	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Ttn	T	C	2: 76,762,331	E20819G	probably damaging	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Unc80	G	A	1: 66,590,229	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,600,317	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp931	A	T	2: 178,068,385	C69*	probably null	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
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
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'- TGCTAGTGACAGAAATGCACCAC -3'
(R):5'- TTATGGAGTGGAACGGCTGC -3'

Sequencing Primer
(F):5'- TAGGAATGGCTCTGCAGA -3'
(R):5'- AGCCTCTGCCAGAAGGACATG -3'

Posted On

2021-07-15