Incidental Mutation 'RF015:Zgrf1'
ID 603457
Institutional Source Beutler Lab
Gene Symbol Zgrf1
Ensembl Gene ENSMUSG00000051278
Gene Name zinc finger, GRF-type containing 1
Synonyms 4930422G04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # RF015 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 127347138-127411672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127356882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 703 (I703V)
Ref Sequence ENSEMBL: ENSMUSP00000142886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043108] [ENSMUST00000195955] [ENSMUST00000196141] [ENSMUST00000199888] [ENSMUST00000200490]
AlphaFold Q0VGT4
Predicted Effect probably benign
Transcript: ENSMUST00000043108
SMART Domains Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278

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: I703V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142886
Gene: ENSMUSG00000051278
AA Change: I703V

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
SMART Domains Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278

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
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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,824 (GRCm39) probably benign Het
5430401F13Rik AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,822 (GRCm39) probably benign Het
5430401F13Rik CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,819 (GRCm39) probably benign Het
Abcb4 GAA G 5: 8,946,594 (GRCm39) probably null Het
Agap1 T A 1: 89,561,985 (GRCm39) Y214* probably null Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Arid1a AGGC A 4: 133,480,142 (GRCm39) probably benign Het
Bco2 A G 9: 50,457,297 (GRCm39) F82L probably damaging Het
Bltp1 TTATTATTATTAT TTATTATTATTATTAGTATTATTATTAT 3: 37,104,897 (GRCm39) probably benign Het
Calhm1 TGGCTGTGGCTG TGGCTGTGGCTGGGGCTGTGGCTG 19: 47,129,695 (GRCm39) probably benign Het
Capn9 T C 8: 125,345,221 (GRCm39) F683L probably benign Het
Cep131 CTGTTGTT CTGTTGTTGTT 11: 119,963,794 (GRCm39) probably benign Het
Cfap251 GGAGGAGGAGGAG GGAGGAGGAGGAGGAG 5: 123,392,305 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Cgnl1 AGCG AGCGGCG 9: 71,631,997 (GRCm39) probably benign Het
Chga AGC AGCGGC 12: 102,527,679 (GRCm39) probably benign Het
Cyb5r4 GACACA GACACAGTGCCCAAGGATGTGACATACACA 9: 86,922,485 (GRCm39) probably benign Het
Cyb5r4 CTGCCCAGGGA CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA 9: 86,922,491 (GRCm39) probably benign Het
Cyria T A 12: 12,419,939 (GRCm39) S294R probably benign Het
Dnah10 G A 5: 124,895,141 (GRCm39) D3557N probably damaging Het
Dnmt1 GGAGCACAGTTCCTACCTCGTT GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT 9: 20,821,420 (GRCm39) probably null Het
Dnmt1 ACAGTTCCTACCTCGTT ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT 9: 20,821,425 (GRCm39) probably null Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,067 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Garin5a TGGGTCTGAGGGAGGA TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA 7: 44,149,946 (GRCm39) probably null Het
Gatad1 A T 5: 3,697,523 (GRCm39) C33S possibly damaging Het
H2-DMb1 A G 17: 34,374,476 (GRCm39) Y42C probably damaging Het
Hars2 G T 18: 36,918,998 (GRCm39) R86L probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Irag2 AGCACATTG AGCACATTGCGCACATTG 6: 145,119,509 (GRCm39) probably benign Het
Lce1m TGCCAC TGCCACTGCTGCGGCCAC 3: 92,925,455 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,447 (GRCm39) probably benign Het
Mast4 GGACAAGCTGTGAGTTGGGGAACCCGGGAG GG 13: 102,875,755 (GRCm39) probably null Het
Mucl2 T A 15: 103,927,696 (GRCm39) N87I probably benign Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Nup214 T C 2: 31,924,718 (GRCm39) V1749A probably benign Het
Or52e5 A G 7: 104,719,255 (GRCm39) I194V probably damaging Het
Pcdhgb4 A T 18: 37,854,855 (GRCm39) N417Y probably damaging Het
Pclo G T 5: 14,565,283 (GRCm39) L16F unknown Het
Pik3c2g T A 6: 139,700,497 (GRCm39) N262K Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Rfx4 CTCTCT CTCTCTCTCTCTCTCTTTCTCT 10: 84,694,353 (GRCm39) probably benign Het
Rnf41 C T 10: 128,271,279 (GRCm39) A63V probably benign Het
Sirt1 C T 10: 63,172,795 (GRCm39) A163T probably damaging Het
Six3 GCG GCGTCG 17: 85,928,798 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Skor2 A G 18: 76,948,483 (GRCm39) E735G probably damaging Het
Slc26a8 TCTCTGGCTCTGGCTCTGGCTCTGGCTC TCTCTGGCTCTGGCTCTGGCTC 17: 28,857,315 (GRCm39) probably benign Het
Smco2 T TTCG 6: 146,754,161 (GRCm39) probably benign Het
Strada A G 11: 106,061,846 (GRCm39) I172T probably damaging Het
Syne1 T C 10: 5,252,248 (GRCm39) I2469V probably benign Het
Tcof1 C CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA 18: 60,966,656 (GRCm39) probably benign Het
Tram1 T C 1: 13,649,966 (GRCm39) Y86C probably damaging Het
Ttll7 T A 3: 146,685,413 (GRCm39) F882L probably benign Het
Usp2 TGTGACCTGTTCTTCACTTAC TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC 9: 44,000,406 (GRCm39) probably benign Het
Utp18 A G 11: 93,776,287 (GRCm39) L66P probably damaging Het
Wnt7a C T 6: 91,371,405 (GRCm39) E186K possibly damaging Het
Zfp384 AGGCCCAGGCCC AGGCCCAGGCCCCGGCCCAGGCCC 6: 125,013,444 (GRCm39) probably benign Het
Zpld2 T C 4: 133,920,338 (GRCm39) H609R 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
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
Predicted Primers PCR Primer
(F):5'- TGACACAGGGAGCAGTTTGG -3'
(R):5'- ATGCTTCGCTGTCTCTATAAATAGG -3'

Sequencing Primer
(F):5'- AGCAGTTTGGACTCGTCGC -3'
(R):5'- CGCTGTCTCTATAAATAGGATGTTTG -3'
Posted On 2019-12-04