Incidental Mutation 'R5925:Zgrf1'
ID 461778
Institutional Source Beutler Lab
Gene Symbol Zgrf1
Ensembl Gene ENSMUSG00000051278
Gene Name zinc finger, GRF-type containing 1
Synonyms 4930422G04Rik
MMRRC Submission 044120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5925 (G1)
Quality Score 172
Status Not validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127366853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 744 (H744R)
Ref Sequence ENSEMBL: ENSMUSP00000143761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]
AlphaFold Q0VGT4
Predicted Effect possibly damaging
Transcript: ENSMUST00000043108
AA Change: H744R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: H744R

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: H744R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: H744R

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: H744R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142693
Gene: ENSMUSG00000051278
AA Change: H744R

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: H744R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143585
Gene: ENSMUSG00000051278
AA Change: H744R

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: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik C T 5: 66,147,735 (GRCm39) W16* probably null Het
Abca8a T C 11: 109,948,049 (GRCm39) D985G probably damaging Het
Afp T A 5: 90,645,147 (GRCm39) C188S probably damaging Het
Ank2 A C 3: 126,726,612 (GRCm39) L894R probably benign Het
Antxr1 A G 6: 87,289,344 (GRCm39) I60T probably damaging Het
Bltp2 T C 11: 78,175,064 (GRCm39) V1733A probably benign Het
Ccdc187 A G 2: 26,183,593 (GRCm39) S136P probably benign Het
Cep95 T C 11: 106,703,227 (GRCm39) S393P probably benign Het
Cyfip2 T C 11: 46,098,263 (GRCm39) Y1053C probably damaging Het
Diaph1 A G 18: 38,024,988 (GRCm39) V491A unknown Het
Dync2i1 A T 12: 116,197,014 (GRCm39) F448I possibly damaging Het
Ehf T C 2: 103,097,338 (GRCm39) probably null Het
Eif2b5 C T 16: 20,326,874 (GRCm39) H99Y probably benign Het
Exosc10 C A 4: 148,657,819 (GRCm39) T655K probably benign Het
Flg A T 3: 93,186,706 (GRCm39) I53F probably damaging Het
Hc T A 2: 34,920,462 (GRCm39) D628V possibly damaging Het
Lmo4 A T 3: 143,900,252 (GRCm39) N83K probably benign Het
Lrp4 A T 2: 91,342,029 (GRCm39) T1881S probably benign Het
Malt1 T A 18: 65,564,439 (GRCm39) L66Q possibly damaging Het
Map3k3 T C 11: 106,040,376 (GRCm39) S314P probably benign Het
Mpzl3 G T 9: 44,973,412 (GRCm39) K50N probably damaging Het
Nbeal2 G T 9: 110,458,948 (GRCm39) Q1992K probably benign Het
Nlrp14 T A 7: 106,785,860 (GRCm39) N645K probably benign Het
Or2g1 T C 17: 38,106,482 (GRCm39) I49T probably benign Het
Or6c76b A G 10: 129,692,744 (GRCm39) D119G probably damaging Het
Pcdha1 T A 18: 37,063,724 (GRCm39) D129E probably damaging Het
Prb1a A G 6: 132,187,475 (GRCm39) L2P unknown Het
Rhbdf1 A G 11: 32,162,906 (GRCm39) Y454H probably benign Het
Satb2 C T 1: 56,836,097 (GRCm39) A565T possibly damaging Het
Sh3pxd2a A T 19: 47,256,051 (GRCm39) L889Q probably damaging Het
Sis T C 3: 72,828,713 (GRCm39) probably null Het
Slc35e2 T C 4: 155,696,084 (GRCm39) V157A probably damaging Het
Slc35f3 T C 8: 127,115,946 (GRCm39) V291A probably benign Het
Snph T C 2: 151,436,151 (GRCm39) D190G probably damaging Het
Tpd52l1 T C 10: 31,208,943 (GRCm39) H170R probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Trip12 G A 1: 84,726,974 (GRCm39) Q9* probably null Het
Ttn C T 2: 76,632,592 (GRCm39) C12408Y probably damaging Het
Ttn T C 2: 76,639,355 (GRCm39) D13806G probably damaging Het
Unc79 G C 12: 103,091,989 (GRCm39) probably null Het
Vmn2r81 T C 10: 79,083,637 (GRCm39) S4P probably damaging Het
Zfp37 G A 4: 62,109,450 (GRCm39) T576I possibly damaging Het
Zfp39 A T 11: 58,782,099 (GRCm39) L221Q possibly 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
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
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'- CTGAATGCAGACCTCAAGCG -3'
(R):5'- TGTGCACCTATGTACACATACAC -3'

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