Incidental Mutation 'R5914:Zgrf1'
ID 461177
Institutional Source Beutler Lab
Gene Symbol Zgrf1
Ensembl Gene ENSMUSG00000051278
Gene Name zinc finger, GRF-type containing 1
Synonyms 4930422G04Rik
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127354672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 97 (L97H)
Ref Sequence ENSEMBL: ENSMUSP00000143585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000195955] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]
AlphaFold Q0VGT4
Predicted Effect probably damaging
Transcript: ENSMUST00000043108
AA Change: L97H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: L97H

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 damaging
Transcript: ENSMUST00000195955
AA Change: L97H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: L97H

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000196141
AA Change: L97H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: L97H

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 noncoding transcript
Transcript: ENSMUST00000196949
Predicted Effect probably damaging
Transcript: ENSMUST00000199888
AA Change: L97H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: L97H

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 damaging
Transcript: ENSMUST00000200490
AA Change: L97H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: L97H

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Birc2 A C 9: 7,857,343 (GRCm39) *377E probably null Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cdkl4 C T 17: 80,855,120 (GRCm39) probably null Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ino80 G A 2: 119,288,697 (GRCm39) S3L probably damaging Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Spon1 G A 7: 113,630,056 (GRCm39) D428N probably damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Trip12 T C 1: 84,741,179 (GRCm39) E571G probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign 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
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
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'- CTGCTTGAATAGTTGAATGTTCACTGC -3'
(R):5'- GTTCCTAAGTAAACAATGAAGCACC -3'

Sequencing Primer
(F):5'- AGTTGAATGTTCACTGCATCTTG -3'
(R):5'- TGAAGCACCATTTTAACAGCAAC -3'
Posted On 2017-02-28