Incidental Mutation 'IGL01021:B3galt5'
ID54030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galt5
Ensembl Gene ENSMUSG00000074892
Gene NameUDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
Synonymsb3Galt-V, 1190002B21Rik
Accession Numbers

Genbank: NM_033149; MGI: 2136878

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01021
Quality Score
Status
Chromosome16
Chromosomal Location96235801-96319859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 96315723 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 185 (H185Q)
Ref Sequence ENSEMBL: ENSMUSP00000109431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099497] [ENSMUST00000113800]
Predicted Effect probably benign
Transcript: ENSMUST00000099497
AA Change: H185Q

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: H185Q

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113800
AA Change: H185Q

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: H185Q

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153586
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in B3galt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:B3galt5 APN 16 96315891 missense probably damaging 1.00
IGL02269:B3galt5 APN 16 96315530 missense possibly damaging 0.90
R1991:B3galt5 UTSW 16 96316025 missense probably damaging 0.99
R2103:B3galt5 UTSW 16 96316025 missense probably damaging 0.99
R5633:B3galt5 UTSW 16 96315509 missense probably benign 0.30
R6017:B3galt5 UTSW 16 96315184 missense probably benign 0.01
R7155:B3galt5 UTSW 16 96315805 missense probably damaging 1.00
R7511:B3galt5 UTSW 16 96315716 missense possibly damaging 0.76
R8314:B3galt5 UTSW 16 96315449 missense probably damaging 1.00
Z1177:B3galt5 UTSW 16 96315379 missense probably damaging 1.00
Z1177:B3galt5 UTSW 16 96316032 missense probably benign
Posted On2013-06-28