Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Zfp839'

188873

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110816687-110836430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110821684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 166 (M166K)

Ref Sequence

ENSEMBL: ENSMUSP00000152386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170060] [ENSMUST00000221549] [ENSMUST00000222460]

AlphaFold

E9PUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000170060
AA Change: M166K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: M166K

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

noncoding transcript
Transcript: ENSMUST00000181662

Predicted Effect

probably benign
Transcript: ENSMUST00000221549
AA Change: M126K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222460
AA Change: M166K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,682 (GRCm39)	C654*	probably null	Het
Adamts19	T	A	18: 59,023,365 (GRCm39)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,140,584 (GRCm39)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,237,657 (GRCm39)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,777,544 (GRCm39)	I198V	probably benign	Het
Bcan	T	A	3: 87,901,503 (GRCm39)	I400F	probably damaging	Het
Capn10	A	G	1: 92,874,620 (GRCm39)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,451,516 (GRCm39)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm39)	L309P	probably benign	Het
Ccser1	T	A	6: 61,288,449 (GRCm39)	I204K	probably benign	Het
Cd276	T	C	9: 58,444,732 (GRCm39)	T80A	probably benign	Het
Cdh3	T	C	8: 107,265,700 (GRCm39)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,320,836 (GRCm39)	T659A	possibly damaging	Het
Col6a4	C	T	9: 105,949,608 (GRCm39)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,443,812 (GRCm39)	V575D	probably damaging	Het
Ep400	G	A	5: 110,841,040 (GRCm39)	Q1795*	probably null	Het
Gcnt3	A	G	9: 69,942,359 (GRCm39)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,749,113 (GRCm39)	I96T	possibly damaging	Het
Gpr183	A	G	14: 122,191,675 (GRCm39)	F282S	probably damaging	Het
Igfals	T	C	17: 25,100,052 (GRCm39)	V381A	probably benign	Het
Irs3	C	A	5: 137,642,783 (GRCm39)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,530,219 (GRCm39)	F410S	probably damaging	Het
Klc4	T	C	17: 46,942,785 (GRCm39)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,670,750 (GRCm39)	Q134L	unknown	Het
Lyst	T	C	13: 13,809,811 (GRCm39)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,944,967 (GRCm39)	M42T	probably benign	Het
Myh7	A	G	14: 55,228,246 (GRCm39)	I250T	probably benign	Het
N4bp1	G	T	8: 87,571,576 (GRCm39)	H807Q	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nfs1	C	T	2: 155,967,256 (GRCm39)	G44D	probably damaging	Het
Nrg1	C	T	8: 32,308,681 (GRCm39)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,115,420 (GRCm39)	V267A	probably benign	Het
Or4e5	A	T	14: 52,728,229 (GRCm39)	F64Y	probably damaging	Het
Or56a5	T	A	7: 104,793,077 (GRCm39)	D141V	possibly damaging	Het
Pak5	C	T	2: 135,958,807 (GRCm39)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,719,339 (GRCm39)		probably null	Het
Sin3b	G	T	8: 73,468,147 (GRCm39)	V290L	probably benign	Het
Sirt1	T	C	10: 63,157,588 (GRCm39)	T609A	probably benign	Het
Skint5	A	T	4: 113,347,875 (GRCm39)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,456,809 (GRCm39)	H488L	probably benign	Het
Slc35b3	A	G	13: 39,139,774 (GRCm39)	S18P	probably benign	Het
Spaca7	T	A	8: 12,636,501 (GRCm39)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,299,501 (GRCm39)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 88,991,645 (GRCm39)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Wdcp	T	C	12: 4,901,815 (GRCm39)	L557P	probably damaging	Het
Wwp2	T	C	8: 108,210,042 (GRCm39)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,538,043 (GRCm39)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfyve9	G	A	4: 108,517,774 (GRCm39)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,924,158 (GRCm39)	C311S	probably damaging	Het

Other mutations in Zfp839

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Zfp839	APN	12	110,831,441 (GRCm39)	critical splice donor site	probably null
IGL00941:Zfp839	APN	12	110,827,382 (GRCm39)	missense	probably damaging	1.00
R0013:Zfp839	UTSW	12	110,834,820 (GRCm39)	missense	possibly damaging	0.66
R0013:Zfp839	UTSW	12	110,834,820 (GRCm39)	missense	possibly damaging	0.66
R0109:Zfp839	UTSW	12	110,827,308 (GRCm39)	missense	possibly damaging	0.92
R0116:Zfp839	UTSW	12	110,825,203 (GRCm39)	intron	probably benign
R1219:Zfp839	UTSW	12	110,834,707 (GRCm39)	missense	possibly damaging	0.63
R1406:Zfp839	UTSW	12	110,832,744 (GRCm39)	missense	probably damaging	0.99
R1406:Zfp839	UTSW	12	110,832,744 (GRCm39)	missense	probably damaging	0.99
R1434:Zfp839	UTSW	12	110,827,333 (GRCm39)	missense	probably benign	0.08
R1754:Zfp839	UTSW	12	110,821,891 (GRCm39)	missense	probably damaging	0.98
R2182:Zfp839	UTSW	12	110,834,772 (GRCm39)	missense	probably damaging	1.00
R3765:Zfp839	UTSW	12	110,821,597 (GRCm39)	missense	probably benign	0.22
R3981:Zfp839	UTSW	12	110,832,765 (GRCm39)	missense	probably damaging	0.97
R4756:Zfp839	UTSW	12	110,821,635 (GRCm39)	missense	possibly damaging	0.92
R5088:Zfp839	UTSW	12	110,834,610 (GRCm39)	missense	probably damaging	0.99
R5394:Zfp839	UTSW	12	110,822,020 (GRCm39)	missense	probably benign	0.05
R5619:Zfp839	UTSW	12	110,830,470 (GRCm39)	missense	probably damaging	1.00
R6856:Zfp839	UTSW	12	110,833,195 (GRCm39)	nonsense	probably null
R7661:Zfp839	UTSW	12	110,835,226 (GRCm39)	missense	probably benign	0.32
R7860:Zfp839	UTSW	12	110,822,060 (GRCm39)	missense	probably damaging	1.00
R8022:Zfp839	UTSW	12	110,821,532 (GRCm39)	missense	probably damaging	1.00
R8855:Zfp839	UTSW	12	110,834,848 (GRCm39)	missense	probably benign	0.06
R8866:Zfp839	UTSW	12	110,834,848 (GRCm39)	missense	probably benign	0.06
R8896:Zfp839	UTSW	12	110,835,277 (GRCm39)	missense	probably damaging	1.00
R9289:Zfp839	UTSW	12	110,834,878 (GRCm39)	missense	probably benign	0.04
R9606:Zfp839	UTSW	12	110,834,776 (GRCm39)	missense	probably benign
R9668:Zfp839	UTSW	12	110,822,280 (GRCm39)	missense	probably damaging	0.98
R9686:Zfp839	UTSW	12	110,821,932 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp839	UTSW	12	110,833,218 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTGCAGAGGTTTAATGCTCCTTCC -3'
(R):5'- ACCCGTCCAGATCGAGTTCTTACC -3'

Sequencing Primer
(F):5'- GGTATCTGGTGACACCAAACTTC -3'
(R):5'- CAGATCGAGTTCTTACCCTTAGAG -3'

Posted On

2014-05-09