Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Zgrf1'

47451

Institutional Source

Beutler Lab

Gene Symbol

Zgrf1

Ensembl Gene

ENSMUSG00000051278

Gene Name

zinc finger, GRF-type containing 1

Synonyms

4930422G04Rik

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127553489-127618023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127573238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 755 (D755E)

Ref Sequence

ENSEMBL: ENSMUSP00000143585 (fasta)

Gene Model

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

AlphaFold

Q0VGT4

Predicted Effect

probably benign
Transcript: ENSMUST00000043108
AA Change: D755E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: D755E

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 benign
Transcript: ENSMUST00000196141
AA Change: D755E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: D755E

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 benign
Transcript: ENSMUST00000199888
AA Change: D755E

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: D755E

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
AA Change: D755E

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: D755E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,291,058	Y974H	probably benign	Het
Abca2	G	T	2: 25,434,894	G300V	probably benign	Het
Abi1	A	G	2: 22,962,504		probably benign	Het
Actr10	T	A	12: 70,959,964	Y332N	probably damaging	Het
Adam25	G	T	8: 40,755,224	C509F	probably damaging	Het
Adck1	A	T	12: 88,371,691		probably benign	Het
Adgra3	A	G	5: 50,009,334		probably null	Het
Adgrl1	G	T	8: 83,934,650		probably benign	Het
Akr1c21	A	G	13: 4,576,307	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,183,697	I463V	probably null	Het
Atp6v1e2	C	T	17: 86,944,578	V131M	probably benign	Het
Bdnf	A	G	2: 109,675,343		probably null	Het
C7	A	T	15: 4,994,142		probably benign	Het
Cdc27	T	C	11: 104,528,288	T273A	probably benign	Het
Cdo1	T	A	18: 46,715,611	I187F	probably benign	Het
Cep104	A	T	4: 153,996,304	T742S	probably benign	Het
Ckm	A	T	7: 19,419,452	K223*	probably null	Het
Cmtr1	C	T	17: 29,676,285	P586L	probably benign	Het
Csmd1	C	T	8: 15,992,758	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 23,882,594	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,090,964		probably benign	Het
Dnah11	A	G	12: 118,106,510	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438	M168K		Het
Dpp3	T	C	19: 4,914,654	N542D	probably damaging	Het
Ebf2	A	T	14: 67,371,736	K199*	probably null	Het
Efcab11	T	A	12: 99,719,035	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,431,036	S686T	probably benign	Het
Epha6	C	T	16: 60,205,732	S449N	possibly damaging	Het
Ercc4	T	C	16: 13,126,467	V329A	probably benign	Het
Faf1	T	C	4: 109,840,403	F309L	possibly damaging	Het
Fam102b	T	C	3: 108,980,204	E248G	probably benign	Het
G6pd2	C	A	5: 61,809,567	D228E	probably benign	Het
Ggt1	T	G	10: 75,585,957	V546G	probably damaging	Het
Gm14139	T	A	2: 150,193,080	C471*	probably null	Het
Gpatch4	G	T	3: 88,051,217	V3F	probably damaging	Het
Gprin3	A	G	6: 59,353,387	L645P	probably damaging	Het
Hyal2	A	G	9: 107,572,071	Y342C	probably benign	Het
Igf2bp2	A	G	16: 22,089,099	I16T	possibly damaging	Het
Inca1	T	C	11: 70,690,199	Y61C	probably damaging	Het
Ipo5	T	C	14: 120,942,733	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,323,024	A341T	probably benign	Het
Kdm5b	T	C	1: 134,602,571	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,947,335		probably benign	Het
Lin54	G	A	5: 100,452,293	T307I	probably damaging	Het
Lrrc18	C	A	14: 33,009,139	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,503,025	S525P	probably benign	Het
Lrrc71	T	A	3: 87,745,699	S137C	probably damaging	Het
Lrrk1	A	T	7: 66,290,908		probably null	Het
Man2b2	G	A	5: 36,816,198	S58L	probably benign	Het
Masp1	T	A	16: 23,458,138	H539L	probably benign	Het
Med1	G	A	11: 98,156,904	P1022L	probably damaging	Het
Meis1	T	A	11: 19,011,360	H171L	probably damaging	Het
Mier1	T	A	4: 103,155,623		probably benign	Het
Mkl2	C	T	16: 13,412,526	T1025I	possibly damaging	Het
Mmp13	A	T	9: 7,272,929	R96S	probably damaging	Het
Mms19	G	A	19: 41,953,734	T38I	probably damaging	Het
Mrc1	G	A	2: 14,310,032	C976Y	probably damaging	Het
Naalad2	A	G	9: 18,385,895	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,143,926		probably benign	Het
Nefm	C	T	14: 68,124,159	D219N	probably damaging	Het
Nwd1	C	T	8: 72,662,337	P172L	probably damaging	Het
Nwd2	T	A	5: 63,805,111	D679E	probably damaging	Het
Ogdh	T	A	11: 6,339,936		probably benign	Het
Olfm3	T	A	3: 115,122,681	S421T	possibly damaging	Het
Olfr1281	A	T	2: 111,329,328	N303I	probably benign	Het
Olfr1445	T	C	19: 12,884,079	L66P	probably damaging	Het
Olfr1445	A	G	19: 12,884,546	T222A	probably damaging	Het
Olfr559	T	A	7: 102,724,029	I154F	probably damaging	Het
Olfr628	T	C	7: 103,732,376	V150A	probably benign	Het
Olfr988	A	G	2: 85,353,749	M59T	possibly damaging	Het
Opn5	T	G	17: 42,592,953	T164P	possibly damaging	Het
Pde7b	C	T	10: 20,438,746	V166M	probably damaging	Het
Pik3ap1	T	C	19: 41,324,564	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,589,418	D3913V	probably damaging	Het
Pld1	A	G	3: 28,120,822	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,644,348	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,202,119	M987K	probably benign	Het
Pmch	A	G	10: 88,091,359	N75D	probably benign	Het
Prom2	T	A	2: 127,532,867	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,353,562	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,457,700	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,625,963	T349S	probably benign	Het
Rfx5	C	T	3: 94,956,355	T105I	probably damaging	Het
Rif1	C	A	2: 52,110,737	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,416,759		probably benign	Het
Rpn1	T	A	6: 88,090,242	S195T	probably benign	Het
Rslcan18	C	A	13: 67,102,119	K17N	probably benign	Het
Rsph3b	A	T	17: 6,941,727	I48N	probably damaging	Het
Sbf2	A	T	7: 110,399,343	Y628N	probably damaging	Het
Sis	T	C	3: 72,960,296	T139A	probably benign	Het
Slc22a14	A	G	9: 119,172,034		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,897,066	T372A	probably damaging	Het
Spidr	T	A	16: 16,037,667	H328L	probably damaging	Het
Sun5	T	A	2: 153,870,952	D16V	probably damaging	Het
Syde2	G	A	3: 146,014,380	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,099,464	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,341,160		probably benign	Het
Timm44	C	A	8: 4,260,532	E407*	probably null	Het
Tmem189	A	T	2: 167,644,987		probably benign	Het
Tnpo2	A	G	8: 85,047,362	T342A	probably benign	Het
Trio	A	G	15: 27,767,907	C1964R	probably benign	Het
Trip11	A	C	12: 101,885,672	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,269,969	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,873,902		probably benign	Het
Ttn	A	T	2: 76,849,991		probably benign	Het
Ucp1	T	A	8: 83,295,307	M256K	possibly damaging	Het
Uhrf1bp1l	T	C	10: 89,791,443	S145P	probably damaging	Het
Unc5a	T	A	13: 55,004,954	S838T	probably damaging	Het
Uxs1	T	C	1: 43,764,886		probably null	Het
Vmn2r108	A	T	17: 20,462,834	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,332,664	G408R	probably damaging	Het
Zfp609	G	A	9: 65,703,462	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,931,095	E341G	probably damaging	Het
Zfp707	A	T	15: 75,975,256	H312L	probably damaging	Het
Zfp773	T	C	7: 7,133,024	D191G	probably benign	Het
Zscan5b	T	A	7: 6,239,075	I431N	probably 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
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
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
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
R9464:Zgrf1	UTSW	3	127584092	missense	probably benign	0.03
R9647:Zgrf1	UTSW	3	127561602	missense	probably benign	0.02
R9680:Zgrf1	UTSW	3	127615567	missense	probably benign	0.38
RF015:Zgrf1	UTSW	3	127563233	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTGAATGCAGACCTCAAGCGAAG -3'
(R):5'- AGAACGTTGACCTCTGACCTCCAC -3'

Sequencing Primer
(F):5'- ttaaatggtggtgatgcttagatg -3'
(R):5'- TGCCCATAAGTGCTAGGCAA -3'

Posted On

2013-06-12