Incidental Mutation 'R5569:Zgrf1'
ID 435505
Institutional Source Beutler Lab
Gene Symbol Zgrf1
Ensembl Gene ENSMUSG00000051278
Gene Name zinc finger, GRF-type containing 1
Synonyms 4930422G04Rik
MMRRC Submission 043126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5569 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127354674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 98 (V98L)
Ref Sequence ENSEMBL: ENSMUSP00000143585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000195955] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]
AlphaFold Q0VGT4
Predicted Effect probably benign
Transcript: ENSMUST00000043108
AA Change: V98L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: V98L

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: ENSMUST00000195955
AA Change: V98L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: V98L

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 benign
Transcript: ENSMUST00000196141
AA Change: V98L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: V98L

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 benign
Transcript: ENSMUST00000199888
AA Change: V98L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: V98L

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: V98L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: V98L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Ackr3 A G 1: 90,142,563 (GRCm39) T341A probably benign Het
Acox3 A G 5: 35,760,377 (GRCm39) Y431C probably damaging Het
Adamtsl2 G A 2: 26,992,845 (GRCm39) V653M probably damaging Het
Anks6 T C 4: 47,045,007 (GRCm39) K300E probably damaging Het
Ap5z1 A T 5: 142,460,206 (GRCm39) D495V probably damaging Het
Atm A T 9: 53,427,750 (GRCm39) Y453* probably null Het
Atpaf2 A T 11: 60,307,706 (GRCm39) W11R probably damaging Het
Bhmt1b A C 18: 87,775,392 (GRCm39) Y305S probably damaging Het
Capn1 T A 19: 6,063,690 (GRCm39) T129S probably benign Het
Catspere2 A T 1: 177,939,162 (GRCm39) K678N possibly damaging Het
Cdh17 A G 4: 11,816,990 (GRCm39) I800M probably damaging Het
Cfap206 C T 4: 34,724,892 (GRCm39) R69Q probably damaging Het
Cp T C 3: 20,033,041 (GRCm39) Y623H probably damaging Het
Dcaf5 A T 12: 80,386,975 (GRCm39) Y384N probably damaging Het
Dhx9 A T 1: 153,342,838 (GRCm39) C555S possibly damaging Het
Dlg2 A G 7: 91,617,388 (GRCm39) T317A probably benign Het
Dsp C T 13: 38,376,628 (GRCm39) T1471I probably benign Het
Ebf1 A G 11: 44,883,228 (GRCm39) M489V possibly damaging Het
Enpp3 T C 10: 24,654,719 (GRCm39) D230G probably damaging Het
Eri3 T C 4: 117,506,553 (GRCm39) M294T possibly damaging Het
Fat1 T A 8: 45,492,873 (GRCm39) V3842E probably damaging Het
Fermt1 T A 2: 132,757,123 (GRCm39) Y569F possibly damaging Het
Fscn1 A G 5: 142,946,799 (GRCm39) D199G probably benign Het
Glce A G 9: 61,977,485 (GRCm39) V133A probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hk1 A G 10: 62,122,220 (GRCm39) S520P probably benign Het
Ighv12-3 A G 12: 114,330,555 (GRCm39) V7A probably benign Het
Ighv6-7 C A 12: 114,419,476 (GRCm39) A43S probably damaging Het
Inf2 A G 12: 112,568,113 (GRCm39) I222V possibly damaging Het
Kmo T A 1: 175,482,688 (GRCm39) N337K probably benign Het
Mcf2l C T 8: 13,055,481 (GRCm39) R611W probably damaging Het
Mipep A T 14: 61,040,383 (GRCm39) H301L probably damaging Het
Mprip A T 11: 59,651,789 (GRCm39) E1831V probably damaging Het
Mrgpra3 T C 7: 47,239,759 (GRCm39) T56A probably benign Het
Mtmr14 G A 6: 113,217,246 (GRCm39) V53I probably damaging Het
Mycbp2 A T 14: 103,372,679 (GRCm39) W4056R probably damaging Het
Myl2 A T 5: 122,244,783 (GRCm39) D151V possibly damaging Het
Myo5c A T 9: 75,180,792 (GRCm39) D727V probably damaging Het
Or10s1 A G 9: 39,985,593 (GRCm39) M1V probably null Het
Or1e22 A T 11: 73,377,518 (GRCm39) I44N probably damaging Het
Or2ag12 A T 7: 106,277,690 (GRCm39) M1K probably null Het
Or56b1b T A 7: 108,164,772 (GRCm39) M77L probably benign Het
Or9s18 A G 13: 65,300,793 (GRCm39) T252A possibly damaging Het
Pabpc1l C T 2: 163,885,474 (GRCm39) T409I probably benign Het
Pcgf1 C T 6: 83,056,686 (GRCm39) R81* probably null Het
Pcgf2 A G 11: 97,583,193 (GRCm39) probably null Het
Phf14 T A 6: 11,934,015 (GRCm39) N292K probably damaging Het
Plin4 T C 17: 56,409,147 (GRCm39) T1358A probably benign Het
Pomgnt1 T C 4: 116,013,164 (GRCm39) S423P probably damaging Het
Prep G A 10: 44,973,533 (GRCm39) V214I probably benign Het
Ptger1 T C 8: 84,394,961 (GRCm39) probably null Het
Pus7 C T 5: 23,953,832 (GRCm39) G415D probably benign Het
Rbm44 C T 1: 91,096,460 (GRCm39) P940S probably damaging Het
Ripor1 A T 8: 106,344,147 (GRCm39) D427V probably damaging Het
Rp1 A G 1: 4,415,460 (GRCm39) I1884T probably damaging Het
Rpl15-ps6 T C 15: 52,341,624 (GRCm39) noncoding transcript Het
Serinc2 T C 4: 130,172,272 (GRCm39) R7G probably benign Het
Serpina6 A C 12: 103,620,719 (GRCm39) F10C possibly damaging Het
Skint5 T A 4: 113,545,903 (GRCm39) probably null Het
Slc66a3 T A 12: 17,045,629 (GRCm39) I114F possibly damaging Het
Slc6a4 A T 11: 76,914,081 (GRCm39) I544F possibly damaging Het
Spdye4b T C 5: 143,188,176 (GRCm39) M223T probably benign Het
Tbc1d17 A T 7: 44,497,755 (GRCm39) V39D probably damaging Het
Thbs3 T A 3: 89,126,770 (GRCm39) Y295N probably damaging Het
Themis G A 10: 28,657,887 (GRCm39) E152K possibly damaging Het
Tmem131 A T 1: 36,838,419 (GRCm39) I1502N probably benign Het
Tmem43 T A 6: 91,454,336 (GRCm39) M41K probably benign Het
Tmprss6 A C 15: 78,324,503 (GRCm39) W771G probably damaging Het
Trp53tg5 T C 2: 164,313,256 (GRCm39) T140A probably benign Het
Uchl1 A G 5: 66,844,216 (GRCm39) E206G probably damaging Het
Vash2 A G 1: 190,692,488 (GRCm39) V229A possibly damaging Het
Vmn1r192 C A 13: 22,371,384 (GRCm39) A279S possibly damaging Het
Vmn1r32 T C 6: 66,530,156 (GRCm39) R207G probably damaging Het
Vmn2r14 T A 5: 109,368,261 (GRCm39) M244L probably benign Het
Vwa5b2 T A 16: 20,414,089 (GRCm39) H236Q probably damaging Het
Zfp652 C T 11: 95,640,116 (GRCm39) P14S probably benign Het
Zfp668 G A 7: 127,466,995 (GRCm39) R194* probably null 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
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'- GTTGAATGTTCACTGCATCTTGTTC -3'
(R):5'- GTGTTCCTAAGTAAACAATGAAGCACC -3'

Sequencing Primer
(F):5'- CATCTTGTTCATTGCTGGTGAGCC -3'
(R):5'- TGAAGCACCATTTTAACAGCAAC -3'
Posted On 2016-10-24