Mutagenetix > Incidental Mutations

Incidental Mutation 'R4321:Zfp850'

323827

Institutional Source

Beutler Lab

Gene Symbol

Zfp850

Ensembl Gene

ENSMUSG00000096916

Gene Name

zinc finger protein 850

Synonyms

C130069I09Rik, Gm4636

MMRRC Submission

041662-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27984854-28014115 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 27989400 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 461 (F461C)

Ref Sequence

ENSEMBL: ENSMUSP00000141063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099111] [ENSMUST00000180024] [ENSMUST00000180502]

Predicted Effect

probably benign
Transcript: ENSMUST00000099111

Predicted Effect

probably damaging
Transcript: ENSMUST00000180024
AA Change: F461C

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

SMART Domains

Protein: ENSMUSP00000137192
Gene: ENSMUSG00000096916
AA Change: F461C

Domain	Start	End	E-Value	Type
KRAB	14	75	1.56e-34	SMART
ZnF_C2H2	172	194	7.18e1	SMART
ZnF_C2H2	200	222	3.63e-3	SMART
ZnF_C2H2	228	250	8.94e-3	SMART
ZnF_C2H2	256	278	7.49e-5	SMART
ZnF_C2H2	313	335	1.01e-1	SMART
ZnF_C2H2	341	363	4.4e-2	SMART
ZnF_C2H2	369	391	7.37e-4	SMART
ZnF_C2H2	397	419	8.47e-4	SMART
ZnF_C2H2	425	447	1.92e-2	SMART
ZnF_C2H2	453	475	2.99e-4	SMART
ZnF_C2H2	481	503	7.78e-3	SMART
ZnF_C2H2	509	531	1.95e-3	SMART
ZnF_C2H2	537	559	1.92e-2	SMART
ZnF_C2H2	565	587	2.99e-4	SMART
ZnF_C2H2	593	615	1.79e-2	SMART
ZnF_C2H2	621	643	7.37e-4	SMART
ZnF_C2H2	649	671	4.4e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180502
AA Change: F461C

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

SMART Domains

Protein: ENSMUSP00000141063
Gene: ENSMUSG00000096916
AA Change: F461C

Domain	Start	End	E-Value	Type
KRAB	14	75	6.5e-37	SMART
ZnF_C2H2	172	194	3e-1	SMART
ZnF_C2H2	200	222	1.5e-5	SMART
ZnF_C2H2	228	250	3.8e-5	SMART
ZnF_C2H2	256	274	2.5e-1	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,224,891	D420V	probably damaging	Het
AI464131	C	T	4: 41,498,767	V288I	probably benign	Het
Als2	A	C	1: 59,167,454		probably benign	Het
Ankrd9	A	G	12: 110,976,640	L287P	probably damaging	Het
Bbof1	A	T	12: 84,427,128	R411*	probably null	Het
Camta2	A	T	11: 70,678,325	L598Q	probably damaging	Het
Ccdc178	T	A	18: 22,033,543	K530*	probably null	Het
Cep85	G	A	4: 134,132,285	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029		probably benign	Het
Cpped1	T	C	16: 11,887,746	T65A	probably benign	Het
Daxx	T	C	17: 33,911,406	Y132H	possibly damaging	Het
Dock7	T	C	4: 99,072,454	E279G	probably damaging	Het
Dok7	A	T	5: 35,079,797		probably benign	Het
Doxl2	T	A	6: 48,976,522	D460E	probably damaging	Het
Dthd1	A	T	5: 62,818,690	I236F	probably damaging	Het
Egf	A	G	3: 129,706,134	C285R	probably damaging	Het
Epha4	T	A	1: 77,507,213		probably null	Het
Fbxw13	A	C	9: 109,181,435	I378M	probably benign	Het
Gaa	A	T	11: 119,270,137	N2I	probably benign	Het
Gad1	G	A	2: 70,589,830	D353N	probably damaging	Het
Ggcx	A	G	6: 72,428,820	S545G	probably benign	Het
Gm15448	A	G	7: 3,822,755	S372P	possibly damaging	Het
Gm2663	G	T	6: 40,997,596	Q87K	probably damaging	Het
Golga4	A	G	9: 118,556,435	E847G	probably damaging	Het
Hipk3	C	A	2: 104,446,571	V388L	probably damaging	Het
Ibtk	T	C	9: 85,735,072	D149G	possibly damaging	Het
Ice1	A	T	13: 70,603,110	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,111,974	E1752G	probably benign	Het
Itsn1	G	A	16: 91,818,552		probably benign	Het
Kprp	G	A	3: 92,824,856	R296W	probably damaging	Het
Lama1	G	A	17: 67,771,083	G1171D	probably benign	Het
Lonp2	A	G	8: 86,665,728	H474R	probably damaging	Het
Mark1	G	T	1: 184,898,674	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,135,450	Q167*	probably null	Het
Myo3a	A	T	2: 22,267,155	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,217,530	V1787G	probably damaging	Het
Nrxn3	A	T	12: 90,199,231	E227V	probably damaging	Het
Orc1	G	A	4: 108,588,776	M30I	probably benign	Het
Rufy2	A	G	10: 62,982,680	D5G	probably damaging	Het
Rufy4	A	T	1: 74,132,784	D222V	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sept1	G	A	7: 127,217,028	P77S	probably damaging	Het
Slamf1	T	C	1: 171,775,126		probably null	Het
Sox6	A	G	7: 115,580,563		probably null	Het
Spef2	A	T	15: 9,679,343	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,885,545	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,679,490	T78A	possibly damaging	Het
Ulk4	T	G	9: 121,073,996	R1138S	probably benign	Het
Vamp8	A	C	6: 72,385,553	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het

Other mutations in Zfp850

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02278:Zfp850	APN	7	28008397	missense	probably damaging	0.96
R0610:Zfp850	UTSW	7	27989394	missense	probably damaging	0.99
R0690:Zfp850	UTSW	7	27985217	missense	possibly damaging	0.67
R0711:Zfp850	UTSW	7	27990273	missense	probably benign	0.00
R1310:Zfp850	UTSW	7	27989459	missense	probably benign	0.40
R1594:Zfp850	UTSW	7	27989391	missense	probably benign	0.00
R1771:Zfp850	UTSW	7	27985275	nonsense	probably null
R2189:Zfp850	UTSW	7	27989055	missense	probably benign	0.02
R2192:Zfp850	UTSW	7	27985195	missense	probably damaging	1.00
R2417:Zfp850	UTSW	7	27989183	missense	possibly damaging	0.54
R4770:Zfp850	UTSW	7	27984986	splice site	probably null
R4970:Zfp850	UTSW	7	27990233	nonsense	probably null
R5112:Zfp850	UTSW	7	27990233	nonsense	probably null
R5166:Zfp850	UTSW	7	27990356	nonsense	probably null
R5303:Zfp850	UTSW	7	28008413	missense	probably damaging	1.00
R5315:Zfp850	UTSW	7	27990318	missense	probably benign	0.02
R5496:Zfp850	UTSW	7	28007346	missense	probably damaging	0.98
R5547:Zfp850	UTSW	7	27989419	missense	probably damaging	1.00
R5677:Zfp850	UTSW	7	27989088	missense	probably damaging	1.00
R5927:Zfp850	UTSW	7	27990195	missense	probably benign	0.17
R6654:Zfp850	UTSW	7	27985215	nonsense	probably null
R6950:Zfp850	UTSW	7	27990514	missense	possibly damaging	0.86
R6987:Zfp850	UTSW	7	27990001	missense	probably damaging	1.00
R6990:Zfp850	UTSW	7	27990376	missense	probably benign	0.09
R7640:Zfp850	UTSW	7	27989209	missense	probably benign	0.05
R7856:Zfp850	UTSW	7	27990474	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAAGTCTGAAGGCTGACCC -3'
(R):5'- GGAAATTATTTCGTCGACGCTC -3'

Sequencing Primer
(F):5'- CAGCTCACACTTGAAAGGTTTC -3'
(R):5'- CGTCGACGCTCAAATTTTATGG -3'

Posted On

2015-06-24