Incidental Mutation 'R0505:Zgrf1'
ID 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: 0.081) question?
Stock # R0505 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127366887 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,241,058 (GRCm39) Y974H probably benign Het
Abca2 G T 2: 25,324,906 (GRCm39) G300V probably benign Het
Abi1 A G 2: 22,852,516 (GRCm39) probably benign Het
Actr10 T A 12: 71,006,738 (GRCm39) Y332N probably damaging Het
Adam25 G T 8: 41,208,261 (GRCm39) C509F probably damaging Het
Adck1 A T 12: 88,338,461 (GRCm39) probably benign Het
Adgra3 A G 5: 50,166,676 (GRCm39) probably null Het
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Akr1c21 A G 13: 4,626,306 (GRCm39) Y110C probably damaging Het
Arhgef25 T C 10: 127,019,566 (GRCm39) I463V probably null Het
Atp6v1e2 C T 17: 87,252,006 (GRCm39) V131M probably benign Het
Bdnf A G 2: 109,505,688 (GRCm39) probably null Het
Bltp3b T C 10: 89,627,305 (GRCm39) S145P probably damaging Het
C7 A T 15: 5,023,624 (GRCm39) probably benign Het
Cdc27 T C 11: 104,419,114 (GRCm39) T273A probably benign Het
Cdo1 T A 18: 46,848,678 (GRCm39) I187F probably benign Het
Cep104 A T 4: 154,080,761 (GRCm39) T742S probably benign Het
Ckm A T 7: 19,153,377 (GRCm39) K223* probably null Het
Cmtr1 C T 17: 29,895,259 (GRCm39) P586L probably benign Het
Csmd1 C T 8: 16,042,758 (GRCm39) R2325Q probably damaging Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Diaph3 A C 14: 87,328,400 (GRCm39) probably benign Het
Dnah11 A G 12: 118,070,245 (GRCm39) V1520A probably damaging Het
Dnajc25 T A 4: 59,020,438 (GRCm39) M168K Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Ebf2 A T 14: 67,609,185 (GRCm39) K199* probably null Het
Eeig2 T C 3: 108,887,520 (GRCm39) E248G probably benign Het
Efcab11 T A 12: 99,685,294 (GRCm39) Q160L probably benign Het
Eif2ak4 T A 2: 118,261,517 (GRCm39) S686T probably benign Het
Epha6 C T 16: 60,026,095 (GRCm39) S449N possibly damaging Het
Ercc4 T C 16: 12,944,331 (GRCm39) V329A probably benign Het
Faf1 T C 4: 109,697,600 (GRCm39) F309L possibly damaging Het
G6pd2 C A 5: 61,966,910 (GRCm39) D228E probably benign Het
Ggt1 T G 10: 75,421,791 (GRCm39) V546G probably damaging Het
Gpatch4 G T 3: 87,958,524 (GRCm39) V3F probably damaging Het
Gprin3 A G 6: 59,330,372 (GRCm39) L645P probably damaging Het
Hyal2 A G 9: 107,449,270 (GRCm39) Y342C probably benign Het
Igf2bp2 A G 16: 21,907,849 (GRCm39) I16T possibly damaging Het
Inca1 T C 11: 70,581,025 (GRCm39) Y61C probably damaging Het
Ipo5 T C 14: 121,180,145 (GRCm39) W860R possibly damaging Het
Kcnj9 C T 1: 172,150,591 (GRCm39) A341T probably benign Het
Kdm5b T C 1: 134,530,309 (GRCm39) V440A probably damaging Het
L3mbtl1 C T 2: 162,789,255 (GRCm39) probably benign Het
Lin54 G A 5: 100,600,152 (GRCm39) T307I probably damaging Het
Lrrc18 C A 14: 32,731,096 (GRCm39) Q212K probably benign Het
Lrrc37a A G 11: 103,393,851 (GRCm39) S525P probably benign Het
Lrrc71 T A 3: 87,653,006 (GRCm39) S137C probably damaging Het
Lrrk1 A T 7: 65,940,656 (GRCm39) probably null Het
Man2b2 G A 5: 36,973,542 (GRCm39) S58L probably benign Het
Masp1 T A 16: 23,276,888 (GRCm39) H539L probably benign Het
Med1 G A 11: 98,047,730 (GRCm39) P1022L probably damaging Het
Meis1 T A 11: 18,961,360 (GRCm39) H171L probably damaging Het
Mier1 T A 4: 103,012,820 (GRCm39) probably benign Het
Mmp13 A T 9: 7,272,929 (GRCm39) R96S probably damaging Het
Mms19 G A 19: 41,942,173 (GRCm39) T38I probably damaging Het
Mrc1 G A 2: 14,314,843 (GRCm39) C976Y probably damaging Het
Mrtfb C T 16: 13,230,390 (GRCm39) T1025I possibly damaging Het
Naalad2 A G 9: 18,297,191 (GRCm39) Y32H probably benign Het
Ndufs1 A G 1: 63,183,085 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Nwd2 T A 5: 63,962,454 (GRCm39) D679E probably damaging Het
Ogdh T A 11: 6,289,936 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,330 (GRCm39) S421T possibly damaging Het
Opn5 T G 17: 42,903,844 (GRCm39) T164P possibly damaging Het
Or4k37 A T 2: 111,159,673 (GRCm39) N303I probably benign Het
Or51a25 T A 7: 102,373,236 (GRCm39) I154F probably damaging Het
Or52a24 T C 7: 103,381,583 (GRCm39) V150A probably benign Het
Or5ak20 A G 2: 85,184,093 (GRCm39) M59T possibly damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Pde7b C T 10: 20,314,492 (GRCm39) V166M probably damaging Het
Peds1 A T 2: 167,486,907 (GRCm39) probably benign Het
Pik3ap1 T C 19: 41,313,003 (GRCm39) N370S probably damaging Het
Pkhd1l1 A T 15: 44,452,814 (GRCm39) D3913V probably damaging Het
Pld1 A G 3: 28,174,971 (GRCm39) I90V possibly damaging Het
Plxna2 A G 1: 194,326,656 (GRCm39) T197A possibly damaging Het
Plxna4 A T 6: 32,179,054 (GRCm39) M987K probably benign Het
Pmch A G 10: 87,927,221 (GRCm39) N75D probably benign Het
Prom2 T A 2: 127,374,787 (GRCm39) Q583L possibly damaging Het
Pyroxd1 T A 6: 142,299,288 (GRCm39) M148K possibly damaging Het
R3hdm2 C T 10: 127,293,569 (GRCm39) L158F probably damaging Het
Rapgef6 A T 11: 54,516,789 (GRCm39) T349S probably benign Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rif1 C A 2: 52,000,749 (GRCm39) P1401Q probably damaging Het
Robo3 G A 9: 37,328,055 (GRCm39) probably benign Het
Rpn1 T A 6: 88,067,224 (GRCm39) S195T probably benign Het
Rslcan18 C A 13: 67,250,183 (GRCm39) K17N probably benign Het
Rsph3b A T 17: 7,209,126 (GRCm39) I48N probably damaging Het
Sbf2 A T 7: 109,998,550 (GRCm39) Y628N probably damaging Het
Sis T C 3: 72,867,629 (GRCm39) T139A probably benign Het
Slc22a14 A G 9: 119,001,100 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Smarcb1 T C 10: 75,732,900 (GRCm39) T372A probably damaging Het
Spidr T A 16: 15,855,531 (GRCm39) H328L probably damaging Het
Sun5 T A 2: 153,712,872 (GRCm39) D16V probably damaging Het
Syde2 G A 3: 145,720,135 (GRCm39) E1053K possibly damaging Het
Syne2 T C 12: 76,146,238 (GRCm39) S6419P probably damaging Het
Tenm3 G A 8: 48,794,195 (GRCm39) probably benign Het
Timm44 C A 8: 4,310,532 (GRCm39) E407* probably null Het
Tnpo2 A G 8: 85,773,991 (GRCm39) T342A probably benign Het
Trio A G 15: 27,767,993 (GRCm39) C1964R probably benign Het
Trip11 A C 12: 101,851,931 (GRCm39) L711R probably damaging Het
Trp53bp1 A T 2: 121,100,450 (GRCm39) H101Q probably damaging Het
Trpm6 A G 19: 18,851,266 (GRCm39) probably benign Het
Ttn A T 2: 76,680,335 (GRCm39) probably benign Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Unc5a T A 13: 55,152,767 (GRCm39) S838T probably damaging Het
Uxs1 T C 1: 43,804,046 (GRCm39) probably null Het
Vmn2r108 A T 17: 20,683,096 (GRCm39) C703S possibly damaging Het
Zc3hav1 C T 6: 38,309,599 (GRCm39) G408R probably damaging Het
Zfp1004 T A 2: 150,035,000 (GRCm39) C471* probably null Het
Zfp609 G A 9: 65,610,744 (GRCm39) L740F possibly damaging Het
Zfp69 T C 4: 120,788,292 (GRCm39) E341G probably damaging Het
Zfp707 A T 15: 75,847,105 (GRCm39) H312L probably damaging Het
Zfp773 T C 7: 7,136,023 (GRCm39) D191G probably benign Het
Zscan5b T A 7: 6,242,074 (GRCm39) I431N probably damaging Het
Other mutations in Zgrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Zgrf1 APN 3 127,381,790 (GRCm39) splice site probably benign
IGL01153:Zgrf1 APN 3 127,396,055 (GRCm39) missense probably damaging 1.00
IGL01330:Zgrf1 APN 3 127,377,656 (GRCm39) missense probably damaging 1.00
IGL01501:Zgrf1 APN 3 127,396,211 (GRCm39) splice site probably null
IGL01827:Zgrf1 APN 3 127,409,930 (GRCm39) missense probably benign 0.06
IGL02600:Zgrf1 APN 3 127,394,623 (GRCm39) splice site probably benign
IGL03122:Zgrf1 APN 3 127,381,782 (GRCm39) missense possibly damaging 0.91
IGL03365:Zgrf1 APN 3 127,392,423 (GRCm39) missense possibly damaging 0.48
R0015_Zgrf1_014 UTSW 3 127,349,046 (GRCm39) splice site probably benign
R1298_Zgrf1_204 UTSW 3 127,377,538 (GRCm39) missense possibly damaging 0.95
R7175_zgrf1_533 UTSW 3 127,357,239 (GRCm39) missense probably damaging 1.00
R0015:Zgrf1 UTSW 3 127,349,046 (GRCm39) splice site probably benign
R0243:Zgrf1 UTSW 3 127,409,095 (GRCm39) missense probably damaging 0.99
R0468:Zgrf1 UTSW 3 127,355,690 (GRCm39) missense possibly damaging 0.72
R0497:Zgrf1 UTSW 3 127,378,299 (GRCm39) splice site probably benign
R0511:Zgrf1 UTSW 3 127,378,309 (GRCm39) missense possibly damaging 0.93
R0539:Zgrf1 UTSW 3 127,408,841 (GRCm39) missense probably damaging 1.00
R0617:Zgrf1 UTSW 3 127,381,687 (GRCm39) missense probably benign 0.39
R1298:Zgrf1 UTSW 3 127,377,538 (GRCm39) missense possibly damaging 0.95
R1353:Zgrf1 UTSW 3 127,405,452 (GRCm39) missense probably damaging 1.00
R1593:Zgrf1 UTSW 3 127,354,675 (GRCm39) missense possibly damaging 0.86
R1846:Zgrf1 UTSW 3 127,409,112 (GRCm39) missense probably damaging 1.00
R1912:Zgrf1 UTSW 3 127,356,786 (GRCm39) missense probably benign
R2062:Zgrf1 UTSW 3 127,406,999 (GRCm39) missense probably damaging 1.00
R2064:Zgrf1 UTSW 3 127,406,999 (GRCm39) missense probably damaging 1.00
R2065:Zgrf1 UTSW 3 127,406,999 (GRCm39) missense probably damaging 1.00
R2066:Zgrf1 UTSW 3 127,406,999 (GRCm39) missense probably damaging 1.00
R2067:Zgrf1 UTSW 3 127,406,999 (GRCm39) missense probably damaging 1.00
R2256:Zgrf1 UTSW 3 127,355,646 (GRCm39) missense probably benign 0.18
R2321:Zgrf1 UTSW 3 127,356,056 (GRCm39) nonsense probably null
R2381:Zgrf1 UTSW 3 127,349,863 (GRCm39) missense probably benign 0.02
R2913:Zgrf1 UTSW 3 127,392,356 (GRCm39) missense possibly damaging 0.65
R3147:Zgrf1 UTSW 3 127,377,797 (GRCm39) missense possibly damaging 0.84
R3236:Zgrf1 UTSW 3 127,407,024 (GRCm39) missense probably damaging 1.00
R3237:Zgrf1 UTSW 3 127,407,024 (GRCm39) missense probably damaging 1.00
R4433:Zgrf1 UTSW 3 127,355,727 (GRCm39) missense probably benign
R4441:Zgrf1 UTSW 3 127,379,786 (GRCm39) missense possibly damaging 0.45
R4457:Zgrf1 UTSW 3 127,389,578 (GRCm39) missense probably damaging 1.00
R4498:Zgrf1 UTSW 3 127,379,749 (GRCm39) nonsense probably null
R4598:Zgrf1 UTSW 3 127,394,679 (GRCm39) missense probably benign 0.14
R4701:Zgrf1 UTSW 3 127,392,353 (GRCm39) missense probably benign 0.03
R4898:Zgrf1 UTSW 3 127,396,085 (GRCm39) missense probably damaging 1.00
R4944:Zgrf1 UTSW 3 127,355,517 (GRCm39) nonsense probably null
R5256:Zgrf1 UTSW 3 127,396,094 (GRCm39) missense probably damaging 1.00
R5294:Zgrf1 UTSW 3 127,394,629 (GRCm39) missense probably benign 0.14
R5358:Zgrf1 UTSW 3 127,361,352 (GRCm39) critical splice donor site probably null
R5359:Zgrf1 UTSW 3 127,394,814 (GRCm39) missense possibly damaging 0.95
R5447:Zgrf1 UTSW 3 127,356,768 (GRCm39) missense possibly damaging 0.73
R5569:Zgrf1 UTSW 3 127,354,674 (GRCm39) missense probably benign 0.33
R5887:Zgrf1 UTSW 3 127,378,414 (GRCm39) missense probably damaging 1.00
R5914:Zgrf1 UTSW 3 127,354,672 (GRCm39) missense probably damaging 0.99
R5925:Zgrf1 UTSW 3 127,366,853 (GRCm39) missense possibly damaging 0.84
R5936:Zgrf1 UTSW 3 127,355,902 (GRCm39) missense possibly damaging 0.72
R6087:Zgrf1 UTSW 3 127,409,135 (GRCm39) missense probably damaging 1.00
R6089:Zgrf1 UTSW 3 127,389,642 (GRCm39) missense probably damaging 1.00
R6181:Zgrf1 UTSW 3 127,381,590 (GRCm39) missense probably damaging 1.00
R6277:Zgrf1 UTSW 3 127,392,461 (GRCm39) missense possibly damaging 0.81
R6441:Zgrf1 UTSW 3 127,381,683 (GRCm39) missense possibly damaging 0.93
R6659:Zgrf1 UTSW 3 127,410,155 (GRCm39) missense probably damaging 0.99
R6857:Zgrf1 UTSW 3 127,375,096 (GRCm39) missense probably damaging 0.99
R6932:Zgrf1 UTSW 3 127,353,281 (GRCm39) critical splice donor site probably null
R7008:Zgrf1 UTSW 3 127,355,421 (GRCm39) missense probably benign 0.18
R7175:Zgrf1 UTSW 3 127,357,239 (GRCm39) missense probably damaging 1.00
R7264:Zgrf1 UTSW 3 127,357,218 (GRCm39) missense probably benign 0.00
R7272:Zgrf1 UTSW 3 127,392,409 (GRCm39) missense probably damaging 0.99
R7298:Zgrf1 UTSW 3 127,377,299 (GRCm39) nonsense probably null
R7412:Zgrf1 UTSW 3 127,356,720 (GRCm39) missense probably benign 0.06
R7836:Zgrf1 UTSW 3 127,357,080 (GRCm39) missense probably damaging 0.96
R7945:Zgrf1 UTSW 3 127,356,409 (GRCm39) missense probably benign 0.37
R7996:Zgrf1 UTSW 3 127,389,573 (GRCm39) missense possibly damaging 0.94
R8165:Zgrf1 UTSW 3 127,357,032 (GRCm39) missense possibly damaging 0.76
R8198:Zgrf1 UTSW 3 127,389,673 (GRCm39) critical splice donor site probably null
R8296:Zgrf1 UTSW 3 127,377,644 (GRCm39) missense probably damaging 0.99
R8298:Zgrf1 UTSW 3 127,408,878 (GRCm39) missense probably damaging 1.00
R8341:Zgrf1 UTSW 3 127,354,564 (GRCm39) nonsense probably null
R8445:Zgrf1 UTSW 3 127,379,854 (GRCm39) critical splice donor site probably null
R9088:Zgrf1 UTSW 3 127,377,326 (GRCm39) missense probably benign 0.21
R9236:Zgrf1 UTSW 3 127,378,312 (GRCm39) missense probably benign 0.09
R9250:Zgrf1 UTSW 3 127,379,797 (GRCm39) missense probably damaging 1.00
R9253:Zgrf1 UTSW 3 127,392,428 (GRCm39) missense probably damaging 1.00
R9464:Zgrf1 UTSW 3 127,377,741 (GRCm39) missense probably benign 0.03
R9647:Zgrf1 UTSW 3 127,355,251 (GRCm39) missense probably benign 0.02
R9680:Zgrf1 UTSW 3 127,409,216 (GRCm39) missense probably benign 0.38
RF015:Zgrf1 UTSW 3 127,356,882 (GRCm39) 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