Mutagenetix > Incidental Mutations

Incidental Mutation 'R4944:Zgrf1'

383329

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

042541-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 127561868 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 248 (Q248*)

Ref Sequence

ENSEMBL: ENSMUSP00000143585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000195955] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]

Predicted Effect

probably null
Transcript: ENSMUST00000043108
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: Q248*

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 null
Transcript: ENSMUST00000195955
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: Q248*

Domain	Start	End	E-Value	Type
Pfam:DUF2439	3	82	1.6e-25	PFAM
low complexity region	92	105	N/A	INTRINSIC
low complexity region	628	639	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000196141
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: Q248*

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

noncoding transcript
Transcript: ENSMUST00000196949

Predicted Effect

probably null
Transcript: ENSMUST00000199888
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: Q248*

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 null
Transcript: ENSMUST00000200490
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: Q248*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,934,327		probably null	Het
Angptl7	C	G	4: 148,500,077	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,402,254	N176Y	probably damaging	Het
Armc9	T	A	1: 86,274,534	S805T	probably damaging	Het
Atxn1	T	G	13: 45,566,931	H496P	probably damaging	Het
Cabin1	C	T	10: 75,721,363	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,739,421	S597P	probably damaging	Het
Catsperd	T	C	17: 56,662,744	S613P	probably damaging	Het
Cdh2	A	G	18: 16,650,409	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,228,668	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,042,190	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,376,695	I1431L	possibly damaging	Het
Csmd1	C	T	8: 15,998,772	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,837,791	I39N	probably damaging	Het
Diexf	A	T	1: 193,114,954	M530K	probably damaging	Het
Dnajc13	C	T	9: 104,167,387		probably benign	Het
Folr2	T	C	7: 101,840,290		probably null	Het
Galnt11	T	C	5: 25,265,338	I595T	probably damaging	Het
Gm884	T	C	11: 103,613,460	T2561A	possibly damaging	Het
Gp5	G	A	16: 30,309,508	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,382,240		probably benign	Het
Gprin3	T	C	6: 59,354,659	N221S	probably benign	Het
Hfm1	T	C	5: 106,874,213	E989G	possibly damaging	Het
Ints1	T	C	5: 139,758,092		probably null	Het
Josd2	T	C	7: 44,471,168	S110P	probably damaging	Het
Kat14	C	A	2: 144,375,953	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,909,764	T48I	probably damaging	Het
Lrrc24	A	G	15: 76,718,346	L113P	probably damaging	Het
Mog	T	C	17: 37,020,541	E89G	probably damaging	Het
Mon2	A	G	10: 123,038,459		probably null	Het
Mtx1	T	C	3: 89,213,898	Y143C	probably benign	Het
Nacad	T	C	11: 6,598,507	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,607,027	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,581,570	E233G	possibly damaging	Het
Oas1h	A	G	5: 120,862,783	E152G	probably damaging	Het
Olfr936	A	G	9: 39,046,862	S186P	probably damaging	Het
Ovgp1	T	C	3: 105,979,953	F222L	possibly damaging	Het
Pkhd1	T	C	1: 20,288,205	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,171,237	T644A	probably benign	Het
Plxnd1	A	G	6: 115,955,765	I1918T	probably damaging	Het
Prrxl1	G	T	14: 32,608,249	Q136H	probably damaging	Het
Psmg1	A	T	16: 95,989,612		probably benign	Het
Ptprd	G	A	4: 76,128,899	R364C	probably damaging	Het
Rgs22	T	C	15: 36,025,942	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 104,951,564	N234S	probably benign	Het
Rrp7a	T	C	15: 83,119,809		probably benign	Het
Scg2	T	A	1: 79,436,476	R177*	probably null	Het
Sema4c	C	A	1: 36,550,311	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,797,743		probably benign	Het
Slc5a3	A	G	16: 92,078,683	T543A	possibly damaging	Het
Slx4ip	T	A	2: 137,046,767	F123I	probably benign	Het
Smtn	C	T	11: 3,522,916	R737H	probably damaging	Het
Stox2	A	G	8: 47,413,265	I14T	possibly damaging	Het
Stradb	T	C	1: 58,980,440	F43L	probably benign	Het
Szt2	T	C	4: 118,388,669	D1029G	probably benign	Het
Taar6	T	C	10: 23,984,715	Y311C	probably damaging	Het
Tcea3	A	T	4: 136,268,093	N249I	probably damaging	Het
Tecta	A	G	9: 42,330,277	M2134T	probably benign	Het
Tg	G	A	15: 66,764,337	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,768,363	I19F	probably benign	Het
Top2a	T	C	11: 98,997,850	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742		probably benign	Het
Usp29	T	C	7: 6,961,928	S257P	possibly damaging	Het
Usp40	T	C	1: 87,952,355	N1038S	probably benign	Het
Vmn1r121	C	T	7: 21,097,613	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,989,032	H105L	probably benign	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
IGL01330:Zgrf1	APN	3	127584007	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
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
R7945:Zgrf1	UTSW	3	127562760	missense	probably benign	0.37
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
R8341:Zgrf1	UTSW	3	127560915	nonsense	probably null
R8445:Zgrf1	UTSW	3	127586205	critical splice donor site	probably null
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTCAACGGATAATCAGAGTCCC -3'
(R):5'- ACAGCGTAAATTCCCTATGCTC -3'

Sequencing Primer
(F):5'- GAGAGAGAAGCGACACACCTTTATC -3'
(R):5'- ATGCTCTGTGTTTCTGCATAGTC -3'

Posted On

2016-04-27