Mutagenetix > Incidental Mutations

Incidental Mutation 'P0016:Zfp750'

7592

Institutional Source

Beutler Lab

Gene Symbol

Zfp750

Ensembl Gene

ENSMUSG00000039238

Gene Name

zinc finger protein 750

Synonyms

A030007D23Rik

MMRRC Submission

038269-MU

Accession Numbers

NCBI RefSeq: NM_178763.4; MGI:2442210

Is this an essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

P0016 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121510978-121519333 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 121513978 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 24 (K24*)

Ref Sequence

ENSEMBL: ENSMUSP00000089951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]

Predicted Effect

probably null
Transcript: ENSMUST00000092298
AA Change: K24*

SMART Domains

Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: K24*

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	45	2.12e1	SMART
low complexity region	352	362	N/A	INTRINSIC
low complexity region	689	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103013

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
SCOP:d1b3ua_	357	742	4e-20	SMART
Pfam:TFCD_C	900	1090	1.4e-74	PFAM
low complexity region	1113	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125167

SMART Domains

Protein: ENSMUSP00000124735
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	36	58	N/A	INTRINSIC

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 85.6%
3x: 81.0%
10x: 66.8%
20x: 50.1%

Validation Efficiency

96% (97/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	T	5: 138,562,938	L154*	probably null	Het
4930432E11Rik	T	C	7: 29,563,112		noncoding transcript	Het
Arap3	T	A	18: 37,984,348	T892S	probably benign	Het
Ctnnd2	G	A	15: 30,966,938	V987I	probably benign	Het
Dennd6b	T	C	15: 89,186,977	I351V	probably benign	Het
Kif27	G	A	13: 58,303,452	Q1021*	probably null	Het
Klb	G	A	5: 65,379,923	W865*	probably null	Het
Mbd1	C	T	18: 74,274,538	R130*	probably null	Het
Mroh7	T	A	4: 106,707,857		probably null	Het
Myo16	C	T	8: 10,400,596		probably benign	Het
Rbm22	T	A	18: 60,570,770		probably benign	Het
Rnaseh2a	C	G	8: 84,959,800	D206H	probably damaging	Het
Slain1	A	G	14: 103,685,674	T187A	probably benign	Het
Slamf6	A	G	1: 171,936,501	T154A	probably damaging	Het
Traip	A	G	9: 107,968,656	D316G	possibly damaging	Het
Ttn	T	C	2: 76,811,183	D5196G	probably damaging	Het
Ubr5	C	T	15: 38,000,578	V1569M	probably damaging	Het
Zfp799	T	C	17: 32,819,357	E645G	possibly damaging	Het

Other mutations in Zfp750

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Zfp750	APN	11	121513096	missense	probably benign	0.07
IGL01450:Zfp750	APN	11	121513029	missense	probably benign
IGL01467:Zfp750	APN	11	121512941	nonsense	probably null
IGL01538:Zfp750	APN	11	121512165	missense	probably benign	0.02
IGL01732:Zfp750	APN	11	121512993	missense	probably benign	0.01
IGL01793:Zfp750	APN	11	121513984	missense	probably damaging	1.00
IGL02004:Zfp750	APN	11	121512149	missense	probably benign	0.00
IGL02334:Zfp750	APN	11	121512011	missense	probably benign	0.03
IGL02441:Zfp750	APN	11	121513629	missense	probably benign	0.00
IGL03173:Zfp750	APN	11	121513825	nonsense	probably null
IGL03229:Zfp750	APN	11	121512952	missense	possibly damaging	0.87
IGL03244:Zfp750	APN	11	121513687	nonsense	probably null
IGL03351:Zfp750	APN	11	121513347	missense	probably damaging	1.00
IGL03390:Zfp750	APN	11	121511944	nonsense	probably null
R0800:Zfp750	UTSW	11	121512012	missense	probably benign
R0900:Zfp750	UTSW	11	121512981	missense	probably benign	0.31
R1444:Zfp750	UTSW	11	121512047	missense	probably damaging	1.00
R1470:Zfp750	UTSW	11	121511993	missense	probably benign
R1470:Zfp750	UTSW	11	121511993	missense	probably benign
R2008:Zfp750	UTSW	11	121513125	missense	possibly damaging	0.92
R2009:Zfp750	UTSW	11	121513125	missense	possibly damaging	0.92
R2134:Zfp750	UTSW	11	121513932	missense	probably damaging	1.00
R2415:Zfp750	UTSW	11	121512479	missense	probably benign	0.01
R2912:Zfp750	UTSW	11	121512327	missense	probably benign	0.00
R3611:Zfp750	UTSW	11	121512155	missense	probably benign	0.03
R4648:Zfp750	UTSW	11	121511880	missense	probably benign	0.00
R5068:Zfp750	UTSW	11	121512195	missense	probably benign	0.02
R5487:Zfp750	UTSW	11	121513732	missense	probably benign	0.00
R7953:Zfp750	UTSW	11	121511880	missense	probably benign	0.00
R8013:Zfp750	UTSW	11	121513017	missense	possibly damaging	0.83
R8014:Zfp750	UTSW	11	121513017	missense	possibly damaging	0.83
R8043:Zfp750	UTSW	11	121511880	missense	probably benign	0.00
R8351:Zfp750	UTSW	11	121513309	missense	probably benign	0.01
R8451:Zfp750	UTSW	11	121513309	missense	probably benign	0.01
X0057:Zfp750	UTSW	11	121513278	missense	probably damaging	0.96

Posted On

2012-10-05