Mutagenetix > Incidental Mutation

Incidental Mutation 'R3960:Zfp647'

312067

Institutional Source

Beutler Lab

Gene Symbol

Zfp647

Ensembl Gene

ENSMUSG00000054967

Gene Name

zinc finger protein 647

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76794571-76809648 bp(-) (GRCm39)

Type of Mutation

splice site (4662 bp from exon)

DNA Base Change (assembly)

A to G at 76795176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004072] [ENSMUST00000048854] [ENSMUST00000229055] [ENSMUST00000229183] [ENSMUST00000229865]

AlphaFold

Q7TNU6

Predicted Effect

probably null
Transcript: ENSMUST00000004072

SMART Domains

Protein: ENSMUSP00000004072
Gene: ENSMUSG00000003970

Domain	Start	End	E-Value	Type
Ribosomal_L2	11	90	5.53e-33	SMART
Ribosomal_L2_C	96	231	6.56e-67	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000048854
AA Change: S495P

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

SMART Domains

Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: S495P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
KRAB	17	77	7.05e-33	SMART
ZnF_C2H2	174	196	3.39e-3	SMART
ZnF_C2H2	202	224	1.2e-3	SMART
ZnF_C2H2	230	252	2.95e-3	SMART
ZnF_C2H2	258	280	4.79e-3	SMART
ZnF_C2H2	286	308	1.84e-4	SMART
ZnF_C2H2	314	336	6.32e-3	SMART
ZnF_C2H2	342	364	7.37e-4	SMART
ZnF_C2H2	370	392	1.6e-4	SMART
ZnF_C2H2	398	420	2.2e-2	SMART
ZnF_C2H2	426	448	6.78e-3	SMART
ZnF_C2H2	454	476	4.87e-4	SMART
ZnF_C2H2	482	504	2.24e-3	SMART
ZnF_C2H2	510	532	9.08e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229055
AA Change: S495P

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

Predicted Effect

probably null
Transcript: ENSMUST00000229183

Predicted Effect

probably benign
Transcript: ENSMUST00000229865

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Celf4	A	G	18: 25,670,811 (GRCm39)	M124T	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Etl4	A	G	2: 20,344,854 (GRCm39)	T53A	probably benign	Het
Hao1	A	C	2: 134,364,903 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,204,793 (GRCm39)	F317S	possibly damaging	Het
Ildr2	T	A	1: 166,136,909 (GRCm39)	W564R	probably damaging	Het
Impg1	G	T	9: 80,322,917 (GRCm39)	F29L	probably benign	Het
Itgam	T	C	7: 127,714,347 (GRCm39)	V834A	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Itpr2	T	C	6: 146,131,262 (GRCm39)	N1948D	probably damaging	Het
Katnb1	T	C	8: 95,813,925 (GRCm39)	V17A	possibly damaging	Het
Nipbl	T	C	15: 8,380,018 (GRCm39)	N925D	probably benign	Het
Oasl2	T	C	5: 115,043,098 (GRCm39)	V70A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,333,749 (GRCm39)	H21R	probably benign	Het
Prkg2	G	T	5: 99,145,354 (GRCm39)	T160K	possibly damaging	Het
Sec23ip	C	G	7: 128,378,574 (GRCm39)	T796S	probably benign	Het
Smarcd2	A	G	11: 106,157,401 (GRCm39)	S182P	probably damaging	Het
Tbrg4	A	G	11: 6,568,077 (GRCm39)	S484P	probably benign	Het
Tprkb	A	G	6: 85,905,783 (GRCm39)	E156G	probably benign	Het

Other mutations in Zfp647

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:Zfp647	APN	15	76,795,870 (GRCm39)	nonsense	probably null
IGL01680:Zfp647	APN	15	76,801,968 (GRCm39)	splice site	probably benign
IGL02647:Zfp647	APN	15	76,801,915 (GRCm39)	missense	probably damaging	1.00
IGL03213:Zfp647	APN	15	76,796,177 (GRCm39)	missense	possibly damaging	0.46
IGL03401:Zfp647	APN	15	76,795,568 (GRCm39)	missense	probably damaging	1.00
R0418:Zfp647	UTSW	15	76,795,586 (GRCm39)	missense	probably damaging	1.00
R1479:Zfp647	UTSW	15	76,795,403 (GRCm39)	missense	possibly damaging	0.94
R1913:Zfp647	UTSW	15	76,796,151 (GRCm39)	missense	probably benign	0.02
R1959:Zfp647	UTSW	15	76,795,314 (GRCm39)	missense	possibly damaging	0.57
R2176:Zfp647	UTSW	15	76,795,860 (GRCm39)	missense	probably damaging	1.00
R3076:Zfp647	UTSW	15	76,802,209 (GRCm39)	start codon destroyed	probably null
R3077:Zfp647	UTSW	15	76,802,209 (GRCm39)	start codon destroyed	probably null
R3701:Zfp647	UTSW	15	76,795,110 (GRCm39)	missense	probably damaging	1.00
R3702:Zfp647	UTSW	15	76,795,110 (GRCm39)	missense	probably damaging	1.00
R4938:Zfp647	UTSW	15	76,795,244 (GRCm39)	frame shift	probably null
R4939:Zfp647	UTSW	15	76,795,244 (GRCm39)	frame shift	probably null
R5196:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5197:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5345:Zfp647	UTSW	15	76,795,695 (GRCm39)	missense	possibly damaging	0.48
R5415:Zfp647	UTSW	15	76,795,593 (GRCm39)	missense	possibly damaging	0.79
R5791:Zfp647	UTSW	15	76,802,206 (GRCm39)	missense	unknown
R5942:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5944:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5945:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5946:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R5947:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6005:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6007:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6073:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6074:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6101:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6102:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6103:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6126:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6127:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6129:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6136:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6151:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6305:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6306:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6329:Zfp647	UTSW	15	76,796,285 (GRCm39)	missense	probably damaging	0.96
R6721:Zfp647	UTSW	15	76,796,076 (GRCm39)	missense	probably benign	0.00
R7158:Zfp647	UTSW	15	76,801,505 (GRCm39)	missense	probably benign	0.01
R7239:Zfp647	UTSW	15	76,795,956 (GRCm39)	missense	probably damaging	1.00
R7611:Zfp647	UTSW	15	76,795,988 (GRCm39)	missense	probably damaging	1.00
R8066:Zfp647	UTSW	15	76,796,095 (GRCm39)	missense	probably damaging	0.98
R8170:Zfp647	UTSW	15	76,795,571 (GRCm39)	missense	possibly damaging	0.87
R8346:Zfp647	UTSW	15	76,795,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGAGGAAGGCTGTTTAG -3'
(R):5'- AGCACTCGCATCTCATCCAG -3'

Sequencing Primer
(F):5'- AGGTCTTGTGCATGTTCTAAGTGC -3'
(R):5'- AGAAACCCTACGTGTGTGGC -3'

Posted On

2015-04-29