Incidental Mutation 'IGL00502:Gm20388'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20388
Ensembl Gene ENSMUSG00000092329
Gene Namepredicted gene 20388
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL00502
Quality Score
Chromosomal Location119910841-124345722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124328098 bp
Amino Acid Change Methionine to Threonine at position 204 (M204T)
Ref Sequence ENSEMBL: ENSMUSP00000034458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034458] [ENSMUST00000127664]
Predicted Effect probably damaging
Transcript: ENSMUST00000034458
AA Change: M204T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: M204T

signal peptide 1 20 N/A INTRINSIC
low complexity region 25 39 N/A INTRINSIC
Pfam:Glycos_transf_2 138 321 8.3e-31 PFAM
Pfam:Glyco_transf_7C 295 365 5.4e-8 PFAM
RICIN 440 565 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127664
AA Change: M170T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: M170T

Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159796
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems.
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Ndufb5 T A 3: 32,744,899 V55D probably damaging Het
Nostrin T C 2: 69,183,992 S431P probably benign Het
Papd5 C T 8: 88,252,258 Q63* probably null Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Spata21 C A 4: 141,111,364 probably null Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Gm20388
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Gm20388 APN 8 124343342 missense probably benign 0.04
R0010:Gm20388 UTSW 8 122270598 intron probably benign
R0103:Gm20388 UTSW 8 122269733 intron probably benign
R0666:Gm20388 UTSW 8 122270988 intron probably benign
R1456:Gm20388 UTSW 8 122841948 intron probably benign
R1476:Gm20388 UTSW 8 122269584 intron probably benign
R4732:Gm20388 UTSW 8 122270274 intron probably benign
R4911:Gm20388 UTSW 8 123080604 intron probably benign
R5256:Gm20388 UTSW 8 122270436 intron probably benign
R5271:Gm20388 UTSW 8 122271133 intron probably benign
R5821:Gm20388 UTSW 8 122900633 makesense probably null
Posted On2012-04-20