Incidental Mutation 'R0511:Zgrf1'
ID 46883
Institutional Source Beutler Lab
Gene Symbol Zgrf1
Ensembl Gene ENSMUSG00000051278
Gene Name zinc finger, GRF-type containing 1
Synonyms 4930422G04Rik
MMRRC Submission 038705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0511 (G1)
Quality Score 167
Status Validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127378309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1023 (I1023T)
Ref Sequence ENSEMBL: ENSMUSP00000143761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000196141] [ENSMUST00000196341] [ENSMUST00000199888] [ENSMUST00000200490]
AlphaFold Q0VGT4
Predicted Effect possibly damaging
Transcript: ENSMUST00000043108
AA Change: I1023T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: I1023T

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 possibly damaging
Transcript: ENSMUST00000196141
AA Change: I1023T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: I1023T

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 possibly damaging
Transcript: ENSMUST00000196341
AA Change: I139T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
AA Change: I139T

DomainStartEndE-ValueType
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

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
SMART Domains Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278

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 0.0628 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,771 (GRCm39) H155R possibly damaging Het
Abca13 G T 11: 9,244,559 (GRCm39) V2141L probably benign Het
Adam17 T C 12: 21,390,459 (GRCm39) probably benign Het
Adam3 A T 8: 25,185,331 (GRCm39) C456S probably damaging Het
Aldh4a1 G T 4: 139,369,882 (GRCm39) probably benign Het
Anapc4 A G 5: 52,999,359 (GRCm39) probably benign Het
Ank3 A T 10: 69,718,198 (GRCm39) Q483L probably damaging Het
Ankle2 A G 5: 110,389,925 (GRCm39) probably benign Het
Ankrd13b T A 11: 77,364,114 (GRCm39) T150S possibly damaging Het
Apeh A G 9: 107,964,254 (GRCm39) M524T probably benign Het
Arl14epl T A 18: 47,059,484 (GRCm39) probably null Het
Atg2a T C 19: 6,302,569 (GRCm39) F964S possibly damaging Het
Atg2b C T 12: 105,583,412 (GRCm39) V2050M probably damaging Het
Atp2b4 A T 1: 133,659,956 (GRCm39) probably benign Het
Bbof1 T A 12: 84,477,045 (GRCm39) S512T probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Car10 T C 11: 93,381,408 (GRCm39) Y100H probably damaging Het
Ccdc81 T A 7: 89,542,504 (GRCm39) E124V probably damaging Het
Cd84 A G 1: 171,700,494 (GRCm39) T204A probably benign Het
Celf2 A G 2: 6,608,987 (GRCm39) S178P probably damaging Het
Chat G A 14: 32,130,976 (GRCm39) T555M probably damaging Het
Chd6 A G 2: 160,834,111 (GRCm39) F917S probably damaging Het
Chrna2 C A 14: 66,386,553 (GRCm39) T233N probably damaging Het
Cnpy2 T C 10: 128,162,054 (GRCm39) V109A probably benign Het
Col4a1 T C 8: 11,258,333 (GRCm39) probably null Het
Csmd1 C T 8: 15,982,529 (GRCm39) V2713M possibly damaging Het
Cuedc1 G A 11: 88,074,231 (GRCm39) R255Q probably damaging Het
Cxcl15 A T 5: 90,945,897 (GRCm39) probably benign Het
Dach1 A T 14: 98,138,765 (GRCm39) H559Q possibly damaging Het
Dele1 T C 18: 38,387,124 (GRCm39) probably null Het
Dennd4c C T 4: 86,744,259 (GRCm39) T1367M probably damaging Het
Depdc5 T A 5: 33,102,372 (GRCm39) Y365* probably null Het
Dicer1 T C 12: 104,669,100 (GRCm39) Y1194C possibly damaging Het
Dmxl1 C G 18: 50,024,534 (GRCm39) S1736* probably null Het
Dnah7a C T 1: 53,536,285 (GRCm39) R2586K probably benign Het
Dnajb8 T C 6: 88,199,467 (GRCm39) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm39) P2088L probably benign Het
Eftud2 T G 11: 102,735,048 (GRCm39) H617P probably damaging Het
Ephb1 A G 9: 101,873,179 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,975 (GRCm39) H155Q probably benign Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Ganc G T 2: 120,278,882 (GRCm39) E700* probably null Het
Gm10912 A G 2: 103,897,290 (GRCm39) probably benign Het
Haus5 A T 7: 30,358,492 (GRCm39) I294N probably damaging Het
Hmgcr G T 13: 96,796,651 (GRCm39) probably null Het
Hr T A 14: 70,799,352 (GRCm39) C641* probably null Het
Itga10 A G 3: 96,565,490 (GRCm39) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,321,436 (GRCm39) Y172S probably damaging Het
Kprp T C 3: 92,732,030 (GRCm39) N340S probably damaging Het
Kremen1 A G 11: 5,165,447 (GRCm39) I41T probably damaging Het
Krt6b A G 15: 101,586,042 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Ldhd A G 8: 112,356,309 (GRCm39) Y86H probably benign Het
Lilra6 A T 7: 3,915,784 (GRCm39) I76N possibly damaging Het
Mak T C 13: 41,199,743 (GRCm39) T299A probably benign Het
Med25 A G 7: 44,534,502 (GRCm39) probably null Het
Mpg A T 11: 32,180,039 (GRCm39) N189I probably damaging Het
Mroh8 A G 2: 157,071,838 (GRCm39) Y556H probably damaging Het
Myh8 T A 11: 67,175,333 (GRCm39) S294T probably benign Het
Myom1 T A 17: 71,391,312 (GRCm39) D842E probably benign Het
Myorg A G 4: 41,498,538 (GRCm39) F364S probably damaging Het
Nat2 C T 8: 67,953,982 (GRCm39) Q31* probably null Het
Nf1 T A 11: 79,329,595 (GRCm39) M653K probably benign Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Nsd3 G A 8: 26,168,732 (GRCm39) G629D possibly damaging Het
Nwd1 G A 8: 73,408,633 (GRCm39) C831Y probably damaging Het
Or52r1c T C 7: 102,735,058 (GRCm39) I111T probably damaging Het
Or5t9 A G 2: 86,659,950 (GRCm39) I285V probably benign Het
P2ry14 A G 3: 59,023,449 (GRCm39) S4P possibly damaging Het
Parp4 A G 14: 56,873,172 (GRCm39) probably benign Het
Pate14 A T 9: 36,549,873 (GRCm39) probably null Het
Pclo A G 5: 14,728,299 (GRCm39) probably benign Het
Pclo T C 5: 14,729,412 (GRCm39) probably benign Het
Pcnt A T 10: 76,240,429 (GRCm39) S1202T possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pgm2 T A 5: 64,267,898 (GRCm39) V449D probably damaging Het
Poldip3 T A 15: 83,022,436 (GRCm39) D116V probably damaging Het
Pom121 G T 5: 135,410,686 (GRCm39) Q824K unknown Het
Prkdc G T 16: 15,649,146 (GRCm39) G3707* probably null Het
Prr14l T C 5: 33,001,560 (GRCm39) probably benign Het
Ptbp2 T G 3: 119,514,613 (GRCm39) I405L probably benign Het
Rad21l A T 2: 151,490,989 (GRCm39) probably benign Het
Rbm6 G A 9: 107,724,488 (GRCm39) Q488* probably null Het
Rdh1 T A 10: 127,600,652 (GRCm39) M225K probably benign Het
Recql5 T C 11: 115,819,209 (GRCm39) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo1 T C 16: 72,810,013 (GRCm39) probably null Het
Samd12 G A 15: 53,723,567 (GRCm39) T42I probably benign Het
Scn10a A T 9: 119,442,766 (GRCm39) M1494K probably damaging Het
Sec31a G A 5: 100,523,099 (GRCm39) P864L probably benign Het
Senp2 T C 16: 21,855,320 (GRCm39) V344A probably benign Het
Serpina5 G A 12: 104,069,621 (GRCm39) D278N probably benign Het
Sh3tc1 A T 5: 35,860,806 (GRCm39) V1017D probably damaging Het
Sin3a T A 9: 57,004,179 (GRCm39) Y310* probably null Het
Slc25a32 T C 15: 38,960,940 (GRCm39) T248A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,117,206 (GRCm39) V722M probably damaging Het
Slco1a4 A G 6: 141,776,586 (GRCm39) probably benign Het
Smg6 T A 11: 74,819,884 (GRCm39) Y52N probably damaging Het
Sncb T G 13: 54,913,400 (GRCm39) T33P probably damaging Het
Spef2 A G 15: 9,584,070 (GRCm39) probably null Het
Spmip1 G T 6: 29,478,169 (GRCm39) probably benign Het
Sugp1 A G 8: 70,512,013 (GRCm39) E203G probably damaging Het
Suv39h2 A T 2: 3,473,616 (GRCm39) C105S probably damaging Het
Tlr1 A T 5: 65,083,963 (GRCm39) F205I probably damaging Het
Tnip1 A T 11: 54,808,699 (GRCm39) M496K probably damaging Het
Tnxb G A 17: 34,937,219 (GRCm39) E2889K probably damaging Het
Trim30b T A 7: 104,015,010 (GRCm39) H126L possibly damaging Het
Trpm7 A T 2: 126,668,638 (GRCm39) Y759* probably null Het
Ttc17 A G 2: 94,153,465 (GRCm39) I1000T possibly damaging Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Uba6 T C 5: 86,260,609 (GRCm39) Y990C probably damaging Het
Vav3 A G 3: 109,571,756 (GRCm39) probably benign Het
Vmn2r55 C T 7: 12,404,945 (GRCm39) A153T possibly damaging Het
Wars2 A G 3: 99,123,865 (GRCm39) D242G probably damaging Het
Xylt2 G A 11: 94,560,762 (GRCm39) Q259* probably null Het
Zfp27 G A 7: 29,593,947 (GRCm39) P673S 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
R0505:Zgrf1 UTSW 3 127,366,887 (GRCm39) missense probably benign 0.30
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'- GGTGCTGTGTGGATTCCAACAGAAG -3'
(R):5'- TGCAAACCAAATCTCCAGAGGTGAC -3'

Sequencing Primer
(F):5'- GCACTATAGCTTGGAGACAGTTTAC -3'
(R):5'- TCTCCAGAGGTGACTATGAAAAC -3'
Posted On 2013-06-11