Incidental Mutation 'IGL01449:Gm43638'
ID84554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm43638
Ensembl Gene ENSMUSG00000107180
Gene Namepredicted gene 43638
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01449
Quality Score
Status
Chromosome5
Chromosomal Location87460240-87486806 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87486215 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 178 (S178T)
Ref Sequence ENSEMBL: ENSMUSP00000143986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
Predicted Effect probably benign
Transcript: ENSMUST00000079811
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268

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
SMART Domains Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268

DomainStartEndE-ValueType
Pfam:UDPGT 1 277 2.3e-168 PFAM
Pfam:Glyco_tran_28_C 100 203 7.4e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147854
AA Change: S178T

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: S178T

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 possibly damaging
Transcript: ENSMUST00000201519
AA Change: S178T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: S178T

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in Gm43638
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Gm43638 APN 5 87460399 missense probably damaging 0.98
IGL01015:Gm43638 APN 5 87486614 nonsense probably null
IGL01081:Gm43638 APN 5 87486596 missense probably damaging 1.00
IGL01296:Gm43638 APN 5 87460592 missense probably benign 0.22
IGL01767:Gm43638 APN 5 87465431 missense probably damaging 1.00
IGL02412:Gm43638 APN 5 87486136 missense possibly damaging 0.95
IGL02684:Gm43638 APN 5 87462910 missense possibly damaging 0.51
IGL03343:Gm43638 APN 5 87460625 missense possibly damaging 0.85
R0233:Gm43638 UTSW 5 87475001 missense probably damaging 1.00
Posted On2013-11-11