Mutagenetix > Incidental Mutations

Incidental Mutation 'R6181:Zgrf1'

488063

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

044323-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127587941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 246 (G246S)

Ref Sequence

ENSEMBL: ENSMUSP00000143570 (fasta)

Gene Model

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

AlphaFold

Q0VGT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043108
AA Change: G1130S

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

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: G1130S

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: G1130S

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

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: G1130S

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: ENSMUST00000196341
AA Change: G246S

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

SMART Domains

Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: G246S

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,488,055	E384G	probably damaging	Het
Akr1b7	A	G	6: 34,415,378	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,548,877	H369L	probably benign	Het
Ano7	T	C	1: 93,395,359	S474P	probably damaging	Het
Aox3	T	C	1: 58,158,946	V639A	probably benign	Het
Arhgef2	T	A	3: 88,635,620	V358E	probably damaging	Het
BC017158	A	G	7: 128,297,460		probably null	Het
Brpf3	A	G	17: 28,810,581	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331	T120A	probably damaging	Het
Clasp1	T	G	1: 118,419,817	S32A	probably benign	Het
Clca2	A	T	3: 145,090,708	L246*	probably null	Het
Clcn7	A	G	17: 25,151,728	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,933,744	D322E	probably benign	Het
Cmtm4	A	C	8: 104,356,365		probably null	Het
Cntnap2	C	T	6: 46,759,808	P723S	probably damaging	Het
Col6a3	T	A	1: 90,816,374	T84S	possibly damaging	Het
Corin	A	G	5: 72,372,096		probably null	Het
Cubn	G	A	2: 13,349,876	T1903I	probably benign	Het
Cyp27b1	A	C	10: 127,050,410	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,485,620	K652R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock1	T	A	7: 135,158,522	M1638K	probably damaging	Het
Eya1	T	C	1: 14,302,872	S8G	probably damaging	Het
Fam193a	T	A	5: 34,443,540		probably null	Het
Fam208a	T	A	14: 27,472,278	M1145K	probably benign	Het
Fbxw11	T	A	11: 32,742,575	N515K	probably benign	Het
Gm11639	T	C	11: 104,831,333	S1924P	probably benign	Het
Gm13083	T	A	4: 143,616,258		probably null	Het
Gm609	A	G	16: 45,417,897	S185P	probably benign	Het
Gm6408	T	C	5: 146,483,772	V154A	possibly damaging	Het
Guf1	A	G	5: 69,561,716	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,823,232	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,340,984	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,501,975	D61V	probably damaging	Het
Lrp5	T	C	19: 3,628,427	D476G	probably damaging	Het
Luzp1	A	G	4: 136,543,267	T934A	probably benign	Het
Mboat7	A	T	7: 3,683,885	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,112,584	R12G	probably benign	Het
Micall2	T	A	5: 139,716,751	T246S	probably benign	Het
Npepps	A	G	11: 97,242,004	V299A	probably damaging	Het
Olfr1381	T	A	11: 49,552,293	V182D	probably damaging	Het
P2ry13	A	G	3: 59,209,907	V150A	probably benign	Het
Pdc	T	C	1: 150,333,270	I168T	probably damaging	Het
Pde8b	C	T	13: 95,086,808	E313K	probably benign	Het
Pgap1	C	T	1: 54,512,777	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,132,523	C259*	probably null	Het
Ptgs1	A	G	2: 36,251,119	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,699,999	L271P	probably damaging	Het
Rbm47	T	C	5: 66,026,490	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,647,520	D104N	probably damaging	Het
Rhobtb3	A	G	13: 75,910,689	I330T	probably benign	Het
Rnf207	T	C	4: 152,308,848	T570A	probably benign	Het
Sbpl	T	C	17: 23,953,492	H151R	probably damaging	Het
Sstr3	T	C	15: 78,539,461	D362G	probably benign	Het
St7	T	C	6: 17,694,364		probably null	Het
Tdrd6	A	G	17: 43,628,897	V420A	probably damaging	Het
Tet2	C	A	3: 133,487,759	E305*	probably null	Het
Tmem209	A	T	6: 30,505,971	V68E	probably damaging	Het
Tmod4	A	T	3: 95,127,807	I208F	probably damaging	Het
Tpo	G	A	12: 30,131,885	L4F	probably benign	Het
Urb1	T	C	16: 90,779,094	H858R	probably benign	Het
Utrn	A	G	10: 12,739,456	W324R	probably damaging	Het
V1rd19	T	A	7: 24,003,215	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,606,267	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,187,282	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,073,757	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,583,864	A459T	probably benign	Het
Vwf	G	T	6: 125,566,146	A132S	probably damaging	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp608	A	G	18: 54,895,628	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,257,142	M438I	probably damaging	Het
Zwint	T	C	10: 72,656,599	V115A	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_014	UTSW	3	127555397	splice site	probably benign
R1298_Zgrf1_204	UTSW	3	127583889	missense	possibly damaging	0.95
R7175_zgrf1_533	UTSW	3	127563590	missense	probably damaging	1.00
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
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
R9088:Zgrf1	UTSW	3	127583677	missense	probably benign	0.21
R9236:Zgrf1	UTSW	3	127584663	missense	probably benign	0.09
R9250:Zgrf1	UTSW	3	127586148	missense	probably damaging	1.00
R9253:Zgrf1	UTSW	3	127598779	missense	probably damaging	1.00
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCCTTGCATGTATGTCTGTG -3'
(R):5'- TCTTCATAGACTGGTACCTTTTGACTT -3'

Sequencing Primer
(F):5'- GAGTACTCTTAATGCTGAGCCAG -3'
(R):5'- ACCTTTTGACTTCTTAAATATGAGCC -3'

Posted On

2017-10-10