Incidental Mutation 'IGL01296:Gm43638'
ID 73112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm43638
Ensembl Gene ENSMUSG00000107180
Gene Name predicted gene 43638
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01296
Quality Score
Status
Chromosome 5
Chromosomal Location 87608099-87634665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87608451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 463 (I463V)
Ref Sequence ENSEMBL: ENSMUSP00000078740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000079811
AA Change: I463V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: I463V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:UDPGT 22 525 3.5e-233 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144144
AA Change: I215V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
AA Change: I215V

DomainStartEndE-ValueType
Pfam:UDPGT 1 277 2.3e-168 PFAM
Pfam:Glyco_tran_28_C 100 203 7.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147854
AA Change: I463V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: I463V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 525 1.2e-235 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201519
AA Change: I629V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: I629V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 240 2.3e-54 PFAM
Pfam:UDPGT 236 499 2.9e-75 PFAM
Pfam:UDPGT 498 691 2.6e-116 PFAM
Pfam:Glyco_tran_28_C 512 618 3.1e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Gm43638
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Gm43638 APN 5 87,608,258 (GRCm39) missense probably damaging 0.98
IGL01015:Gm43638 APN 5 87,634,473 (GRCm39) nonsense probably null
IGL01081:Gm43638 APN 5 87,634,455 (GRCm39) missense probably damaging 1.00
IGL01449:Gm43638 APN 5 87,634,074 (GRCm39) missense possibly damaging 0.95
IGL01767:Gm43638 APN 5 87,613,290 (GRCm39) missense probably damaging 1.00
IGL02412:Gm43638 APN 5 87,633,995 (GRCm39) missense possibly damaging 0.95
IGL02684:Gm43638 APN 5 87,610,769 (GRCm39) missense possibly damaging 0.51
IGL03343:Gm43638 APN 5 87,608,484 (GRCm39) missense possibly damaging 0.85
R0233:Gm43638 UTSW 5 87,622,860 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07