Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01538:Zfp750'

90048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp750

Ensembl Gene

ENSMUSG00000039238

Gene Name

zinc finger protein 750

Synonyms

A030007D23Rik

Accession Numbers

NCBI RefSeq: NM_178763.4; MGI:2442210

Is this an essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

121510978-121519333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121512165 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 586 (V586L)

Ref Sequence

ENSEMBL: ENSMUSP00000089951 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092298
AA Change: V586L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: V586L

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

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,872,202		noncoding transcript	Het
Abca3	G	T	17: 24,376,473	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 24,918,512	N323D	possibly damaging	Het
Atp5c1	T	C	2: 10,068,666	Y32C	probably damaging	Het
Capn3	T	G	2: 120,502,186		probably null	Het
Ccdc113	C	A	8: 95,551,238	D275E	probably benign	Het
Ccdc40	T	A	11: 119,242,719	F562I	possibly damaging	Het
Cd96	T	C	16: 46,109,127	T152A	possibly damaging	Het
Cdh7	T	A	1: 110,061,140	D257E	probably damaging	Het
Cilp2	T	C	8: 69,881,204	D1048G	probably benign	Het
Clrn2	T	G	5: 45,460,066	L93R	probably damaging	Het
Crat	C	A	2: 30,409,966	G134V	probably damaging	Het
Dis3	A	T	14: 99,097,745	N140K	probably benign	Het
Dmxl2	T	A	9: 54,445,376		probably benign	Het
Dus1l	T	A	11: 120,793,079	Q181L	probably damaging	Het
Ece1	A	G	4: 137,948,544	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,048	H90L	probably damaging	Het
Gm16602	G	A	13: 19,336,570		probably benign	Het
Gm1966	T	C	7: 106,602,537	D500G	probably damaging	Het
Gpr152	T	A	19: 4,142,952	V164E	probably damaging	Het
Grik3	A	C	4: 125,694,036	I650L	possibly damaging	Het
Gzmm	A	T	10: 79,695,062	T233S	probably benign	Het
H2-Q4	T	A	17: 35,383,312	V341D	probably benign	Het
Igsf21	A	G	4: 140,027,718		probably benign	Het
Kmt2d	T	C	15: 98,860,657		probably benign	Het
Kntc1	T	G	5: 123,781,658	V864G	probably damaging	Het
Lnx1	T	C	5: 74,620,155	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,097,430	K985N	probably benign	Het
Map4k1	C	A	7: 29,001,619	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,388,974		probably null	Het
Mettl16	T	A	11: 74,792,267	Y178*	probably null	Het
Mrpl11	T	A	19: 4,963,421		probably null	Het
Nup85	T	C	11: 115,569,714	S140P	possibly damaging	Het
Olfr1140	T	C	2: 87,746,598	V134A	probably benign	Het
Olfr1301	T	A	2: 111,755,005	V252E	probably damaging	Het
Olfr301	T	C	7: 86,412,959	L199P	possibly damaging	Het
Olfr352	T	C	2: 36,870,520		probably benign	Het
Pcdhb2	T	A	18: 37,295,322	L116*	probably null	Het
Pdcd7	C	A	9: 65,346,703	R188S	probably damaging	Het
Pdk2	T	C	11: 95,027,285	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,234,021	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,876,635	Y169N	probably damaging	Het
Prcp	A	C	7: 92,910,213	T162P	probably benign	Het
Prkd1	A	G	12: 50,342,142	S873P	probably benign	Het
Ptpn2	T	C	18: 67,681,553	T129A	probably benign	Het
Rtkn	G	A	6: 83,146,061	R68H	probably damaging	Het
Sall4	C	T	2: 168,755,856	D355N	probably damaging	Het
Scn7a	A	G	2: 66,703,852	V493A	probably benign	Het
Sema4b	G	A	7: 80,215,696	A140T	probably damaging	Het
Shisa6	C	A	11: 66,217,828	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,454,164	V197F	probably damaging	Het
Spata2	A	T	2: 167,484,151	D249E	probably damaging	Het
Stk36	T	A	1: 74,633,638	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,343,500	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,537,844	V185D	possibly damaging	Het
Tgm7	T	A	2: 121,106,915	Y76F	probably benign	Het
Tph1	T	C	7: 46,653,753	Y267C	probably damaging	Het
Ube2d1	A	G	10: 71,255,826		probably benign	Het
Vmn2r12	C	A	5: 109,091,850	R282S	probably damaging	Het
Vps4a	A	G	8: 107,036,924	D72G	probably benign	Het
Wipf2	T	A	11: 98,890,803	V56D	possibly damaging	Het
Wisp3	A	G	10: 39,158,310	Y99H	probably damaging	Het
Zfp831	A	G	2: 174,644,606	E358G	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
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
P0016:Zfp750	UTSW	11	121513978	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

2013-12-03