Incidental Mutation 'IGL02716:Gm572'
ID304754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm572
Ensembl Gene ENSMUSG00000070577
Gene Namepredicted gene 572
Synonymsb2b1167Clo, LOC230909
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02716
Quality Score
Status
Chromosome4
Chromosomal Location148643317-148671572 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 148654870 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 52 (M52V)
Ref Sequence ENSEMBL: ENSMUSP00000101323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105698]
Predicted Effect probably benign
Transcript: ENSMUST00000105698
AA Change: M52V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: M52V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DUF4556 144 358 1.9e-117 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null Het
Other mutations in Gm572
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Gm572 APN 4 148667392 missense possibly damaging 0.93
IGL01766:Gm572 APN 4 148654895 missense possibly damaging 0.53
IGL02670:Gm572 APN 4 148651228 missense probably benign
PIT1430001:Gm572 UTSW 4 148671393 missense unknown
R1346:Gm572 UTSW 4 148654897 missense possibly damaging 0.96
R1546:Gm572 UTSW 4 148666819 missense possibly damaging 0.71
R1564:Gm572 UTSW 4 148651186 missense possibly damaging 0.53
R1672:Gm572 UTSW 4 148668509 missense possibly damaging 0.86
R2516:Gm572 UTSW 4 148664384 missense possibly damaging 0.93
R3852:Gm572 UTSW 4 148668872 missense possibly damaging 0.71
R4366:Gm572 UTSW 4 148654865 missense possibly damaging 0.85
R4884:Gm572 UTSW 4 148667362 missense possibly damaging 0.85
R4888:Gm572 UTSW 4 148666845 critical splice donor site probably null
R5026:Gm572 UTSW 4 148654844 missense possibly damaging 0.92
R5121:Gm572 UTSW 4 148666845 critical splice donor site probably null
R5797:Gm572 UTSW 4 148666798 missense probably benign 0.02
R5988:Gm572 UTSW 4 148668507 missense possibly damaging 0.85
R6827:Gm572 UTSW 4 148658086 missense possibly damaging 0.96
R7709:Gm572 UTSW 4 148668951 missense probably damaging 0.98
RF029:Gm572 UTSW 4 148671393 frame shift probably null
RF030:Gm572 UTSW 4 148671393 frame shift probably null
Posted On2015-04-16