Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Zfp839'

274671

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

MMRRC Submission

040742-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3765 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

110850253-110869996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110855163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

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: V137A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: V137A

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: V97A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000222460
AA Change: V137A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,747,552	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Dpp4	T	A	2: 62,386,436	T92S	probably benign	Het
Fam135a	T	C	1: 24,055,877	T137A	possibly damaging	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	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
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'- AGAGGTTTAATGCTCCTTCCG -3'
(R):5'- AATCAACAGGCTAGATGGCAC -3'

Sequencing Primer
(F):5'- GAGGTTTAATGCTCCTTCCGGTTTC -3'
(R):5'- TGCAACTGCGCGTGTAC -3'

Posted On

2015-04-02