Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Zgrf1'

74491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127584007 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 967 (V967E)

Ref Sequence

ENSEMBL: ENSMUSP00000143761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000196141] [ENSMUST00000196341] [ENSMUST00000199888] [ENSMUST00000200490]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043108
AA Change: V967E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: V967E

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.7e-23	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC
low complexity region	896	906	N/A	INTRINSIC
Pfam:zf-GRF	1109	1153	1.5e-17	PFAM
low complexity region	1316	1328	N/A	INTRINSIC
Pfam:AAA_11	1501	1608	1.6e-21	PFAM
Pfam:AAA_12	1616	1802	1.3e-51	PFAM
coiled coil region	1833	1861	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196141
AA Change: V967E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: V967E

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.7e-23	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC
low complexity region	896	906	N/A	INTRINSIC
Pfam:zf-GRF	1109	1153	1.5e-17	PFAM
low complexity region	1316	1328	N/A	INTRINSIC
Pfam:AAA_11	1501	1608	1.6e-21	PFAM
Pfam:AAA_12	1616	1802	1.3e-51	PFAM
coiled coil region	1833	1861	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196341
AA Change: V83E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: V83E

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
Pfam:zf-GRF	225	269	6.7e-15	PFAM
low complexity region	432	444	N/A	INTRINSIC
Pfam:AAA_11	491	659	7.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199888

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	82	3.5e-22	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200490

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	81	3.4e-20	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677	I43V	probably damaging	Het
Acot11	T	C	4: 106,771,484	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Cerkl	A	G	2: 79,368,781	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438		probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Zgrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Zgrf1	APN	3	127588141	splice site	probably benign
IGL01153:Zgrf1	APN	3	127602406	missense	probably damaging	1.00
IGL01501:Zgrf1	APN	3	127602562	splice site	probably null
IGL01827:Zgrf1	APN	3	127616281	missense	probably benign	0.06
IGL02600:Zgrf1	APN	3	127600974	splice site	probably benign
IGL03122:Zgrf1	APN	3	127588133	missense	possibly damaging	0.91
IGL03365:Zgrf1	APN	3	127598774	missense	possibly damaging	0.48
R0015:Zgrf1	UTSW	3	127555397	splice site	probably benign
R0243:Zgrf1	UTSW	3	127615446	missense	probably damaging	0.99
R0468:Zgrf1	UTSW	3	127562041	missense	possibly damaging	0.72
R0497:Zgrf1	UTSW	3	127584650	splice site	probably benign
R0505:Zgrf1	UTSW	3	127573238	missense	probably benign	0.30
R0511:Zgrf1	UTSW	3	127584660	missense	possibly damaging	0.93
R0539:Zgrf1	UTSW	3	127615192	missense	probably damaging	1.00
R0617:Zgrf1	UTSW	3	127588038	missense	probably benign	0.39
R1298:Zgrf1	UTSW	3	127583889	missense	possibly damaging	0.95
R1353:Zgrf1	UTSW	3	127611803	missense	probably damaging	1.00
R1593:Zgrf1	UTSW	3	127561026	missense	possibly damaging	0.86
R1846:Zgrf1	UTSW	3	127615463	missense	probably damaging	1.00
R1912:Zgrf1	UTSW	3	127563137	missense	probably benign
R2062:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2064:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2065:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2066:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2067:Zgrf1	UTSW	3	127613350	missense	probably damaging	1.00
R2256:Zgrf1	UTSW	3	127561997	missense	probably benign	0.18
R2321:Zgrf1	UTSW	3	127562407	nonsense	probably null
R2381:Zgrf1	UTSW	3	127556214	missense	probably benign	0.02
R2913:Zgrf1	UTSW	3	127598707	missense	possibly damaging	0.65
R3147:Zgrf1	UTSW	3	127584148	missense	possibly damaging	0.84
R3236:Zgrf1	UTSW	3	127613375	missense	probably damaging	1.00
R3237:Zgrf1	UTSW	3	127613375	missense	probably damaging	1.00
R4433:Zgrf1	UTSW	3	127562078	missense	probably benign
R4441:Zgrf1	UTSW	3	127586137	missense	possibly damaging	0.45
R4457:Zgrf1	UTSW	3	127595929	missense	probably damaging	1.00
R4498:Zgrf1	UTSW	3	127586100	nonsense	probably null
R4598:Zgrf1	UTSW	3	127601030	missense	probably benign	0.14
R4701:Zgrf1	UTSW	3	127598704	missense	probably benign	0.03
R4898:Zgrf1	UTSW	3	127602436	missense	probably damaging	1.00
R4944:Zgrf1	UTSW	3	127561868	nonsense	probably null
R5256:Zgrf1	UTSW	3	127602445	missense	probably damaging	1.00
R5294:Zgrf1	UTSW	3	127600980	missense	probably benign	0.14
R5358:Zgrf1	UTSW	3	127567703	critical splice donor site	probably null
R5359:Zgrf1	UTSW	3	127601165	missense	possibly damaging	0.95
R5447:Zgrf1	UTSW	3	127563119	missense	possibly damaging	0.73
R5569:Zgrf1	UTSW	3	127561025	missense	probably benign	0.33
R5887:Zgrf1	UTSW	3	127584765	missense	probably damaging	1.00
R5914:Zgrf1	UTSW	3	127561023	missense	probably damaging	0.99
R5925:Zgrf1	UTSW	3	127573204	missense	possibly damaging	0.84
R5936:Zgrf1	UTSW	3	127562253	missense	possibly damaging	0.72
R6087:Zgrf1	UTSW	3	127615486	missense	probably damaging	1.00
R6089:Zgrf1	UTSW	3	127595993	missense	probably damaging	1.00
R6181:Zgrf1	UTSW	3	127587941	missense	probably damaging	1.00
R6277:Zgrf1	UTSW	3	127598812	missense	possibly damaging	0.81
R6441:Zgrf1	UTSW	3	127588034	missense	possibly damaging	0.93
R6659:Zgrf1	UTSW	3	127616506	missense	probably damaging	0.99
R6857:Zgrf1	UTSW	3	127581447	missense	probably damaging	0.99
R6932:Zgrf1	UTSW	3	127559632	critical splice donor site	probably null
R7008:Zgrf1	UTSW	3	127561772	missense	probably benign	0.18
R7175:Zgrf1	UTSW	3	127563590	missense	probably damaging	1.00
R7264:Zgrf1	UTSW	3	127563569	missense	probably benign	0.00
R7272:Zgrf1	UTSW	3	127598760	missense	probably damaging	0.99
R7298:Zgrf1	UTSW	3	127583650	nonsense	probably null
R7412:Zgrf1	UTSW	3	127563071	missense	probably benign	0.06
R7836:Zgrf1	UTSW	3	127563431	missense	probably damaging	0.96
R7919:Zgrf1	UTSW	3	127563431	missense	probably damaging	0.96
R7996:Zgrf1	UTSW	3	127595924	missense	possibly damaging	0.94
R8165:Zgrf1	UTSW	3	127563383	missense	possibly damaging	0.76
R8198:Zgrf1	UTSW	3	127596024	critical splice donor site	probably null
R8296:Zgrf1	UTSW	3	127583995	missense	probably damaging	0.99
R8298:Zgrf1	UTSW	3	127615229	missense	probably damaging	1.00
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Posted On

2013-10-07