Mutagenetix > Incidental Mutations

Incidental Mutation 'R5547:Zfp850'

436347

Institutional Source

Beutler Lab

Gene Symbol

Zfp850

Ensembl Gene

ENSMUSG00000096916

Gene Name

zinc finger protein 850

Synonyms

C130069I09Rik, Gm4636

MMRRC Submission

043105-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27984854-28014115 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27989419 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 455 (C455R)

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: C455R

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

SMART Domains

Protein: ENSMUSP00000137192
Gene: ENSMUSG00000096916
AA Change: C455R

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: C455R

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

SMART Domains

Protein: ENSMUSP00000141063
Gene: ENSMUSG00000096916
AA Change: C455R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,528,284	S492P	probably damaging	Het
Arfgef1	A	T	1: 10,160,976	D1133E	probably damaging	Het
Avpi1	T	C	19: 42,124,943	K25R	probably damaging	Het
Bank1	T	C	3: 136,066,349	S708G	probably damaging	Het
C1qtnf2	A	G	11: 43,490,967	E202G	probably damaging	Het
C6	T	A	15: 4,808,488	V860E	probably benign	Het
Cbr1	T	A	16: 93,609,810	V138E	probably damaging	Het
Cdip1	A	G	16: 4,770,124	S2P	probably damaging	Het
Cep126	T	C	9: 8,100,427	N702S	probably damaging	Het
Chek1	T	C	9: 36,712,104	I381V	probably benign	Het
Clock	G	A	5: 76,230,338	P572S	probably benign	Het
Cryz	C	T	3: 154,611,557	R138*	probably null	Het
Ctsll3	T	A	13: 60,800,737	M103L	probably benign	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 33,912,641		probably benign	Het
Daxx	CGATGATGATGA	CGA	17: 33,912,659		probably benign	Het
Dsg1a	T	G	18: 20,336,040		probably null	Het
Eya4	T	C	10: 23,109,854	E583G	possibly damaging	Het
Flt1	T	A	5: 147,655,138	S505C	probably damaging	Het
Gm11127	G	A	17: 36,057,904	H95Y	possibly damaging	Het
Gpr161	C	A	1: 165,306,413	F81L	possibly damaging	Het
Hmcn1	A	G	1: 150,737,506	V1390A	possibly damaging	Het
Ifi44l	C	T	3: 151,761,505	V63I	unknown	Het
Klhl3	C	T	13: 58,102,429		probably null	Het
Lekr1	T	A	3: 65,669,180		probably null	Het
Lhx5	A	G	5: 120,434,610	Q98R	probably benign	Het
Nuggc	A	G	14: 65,641,881	K681E	possibly damaging	Het
Numa1	G	T	7: 102,013,930	A735S	probably damaging	Het
Olfr201	G	A	16: 59,269,116	L184F	probably benign	Het
Oog3	A	T	4: 144,158,028	L446Q	probably benign	Het
Otogl	C	T	10: 107,782,048	E1735K	possibly damaging	Het
Pcsk5	T	C	19: 17,752,124	D119G	probably benign	Het
Pgpep1	T	C	8: 70,652,419	K64E	probably benign	Het
Prr19	A	C	7: 25,303,963	D334A	probably damaging	Het
Ptprh	G	T	7: 4,554,222	S691*	probably null	Het
Recql4	G	A	15: 76,705,794	R684*	probably null	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rnf40	T	C	7: 127,589,130		probably null	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Spag17	T	C	3: 100,056,152	V1062A	probably benign	Het
Tbc1d1	A	G	5: 64,324,544	D696G	possibly damaging	Het
Tdo2	T	C	3: 81,958,940	R339G	probably damaging	Het
Tmem245	C	T	4: 56,910,156		probably null	Het
Trim24	A	G	6: 37,965,550	E965G	probably damaging	Het
Trmt112	T	C	19: 6,910,788	S103P	probably damaging	Het
Trpv6	A	T	6: 41,636,154	V26D	possibly damaging	Het
Zfp946	T	C	17: 22,454,892	I209T	probably benign	Het
Zfp957	T	C	14: 79,213,966	N131S	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
R4321:Zfp850	UTSW	7	27989400	missense	probably damaging	0.99
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
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'- CTGATGTGAAACTATATCAGTGCAAGG -3'

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

Posted On

2016-10-24