Incidental Mutation 'IGL02557:Alg12'
ID 298328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg12
Ensembl Gene ENSMUSG00000035845
Gene Name ALG12 alpha-1,6-mannosyltransferase
Synonyms ECM39, mannosyltransferase
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # IGL02557
Quality Score
Status
Chromosome 15
Chromosomal Location 88689448-88703498 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88700410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 9 (K9*)
Ref Sequence ENSEMBL: ENSMUSP00000123935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024042] [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]
AlphaFold Q8VDB2
Predicted Effect probably benign
Transcript: ENSMUST00000024042
SMART Domains Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF3456 28 86 1.3e-7 PFAM
low complexity region 90 100 N/A INTRINSIC
EGF 137 176 3.76e-1 SMART
FU 191 238 1.2e-7 SMART
EGF_like 228 273 1.76e-3 SMART
FU 251 298 5.08e-6 SMART
EGF_CA 288 329 3.17e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000043087
AA Change: K9*
SMART Domains Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845
AA Change: K9*

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 267 4e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159328
AA Change: K9*
SMART Domains Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845
AA Change: K9*

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 169 6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160222
Predicted Effect probably null
Transcript: ENSMUST00000162183
AA Change: K9*
SMART Domains Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
AA Change: K9*

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 406 3.3e-44 PFAM
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 the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,444 (GRCm39) P222L probably benign Het
Arhgap20 T C 9: 51,732,573 (GRCm39) V119A probably damaging Het
Arhgap45 T C 10: 79,857,472 (GRCm39) Y178H probably damaging Het
Atad2 A T 15: 57,985,993 (GRCm39) S243T probably benign Het
Atp13a5 A C 16: 29,066,934 (GRCm39) F1013V probably benign Het
Atp1a2 T G 1: 172,106,218 (GRCm39) T865P possibly damaging Het
Bcas2 T C 3: 103,079,183 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,985 (GRCm39) S297P unknown Het
Cdk5 A T 5: 24,624,651 (GRCm39) S215T probably benign Het
Ciita T A 16: 10,329,879 (GRCm39) L798Q probably damaging Het
Clcn2 A G 16: 20,527,214 (GRCm39) S584P probably damaging Het
Cntn6 A G 6: 104,751,496 (GRCm39) Y384C probably damaging Het
Cyp2b10 T A 7: 25,614,306 (GRCm39) V260D probably benign Het
Dsel A T 1: 111,790,300 (GRCm39) H78Q probably damaging Het
Eml3 T C 19: 8,908,745 (GRCm39) probably benign Het
Fcgr2b C A 1: 170,790,891 (GRCm39) probably null Het
Fryl A T 5: 73,255,736 (GRCm39) L765Q probably damaging Het
Gas2 T A 7: 51,537,681 (GRCm39) M2K probably damaging Het
Gm13941 T C 2: 110,931,501 (GRCm39) K44E unknown Het
Gm42878 A G 5: 121,665,194 (GRCm39) S205P possibly damaging Het
Hcn3 A T 3: 89,057,178 (GRCm39) S473R probably damaging Het
Hnrnpr A G 4: 136,046,817 (GRCm39) E65G probably damaging Het
Ints1 A T 5: 139,757,392 (GRCm39) V375E probably damaging Het
Lama5 A T 2: 179,832,725 (GRCm39) C1642* probably null Het
Lsr T G 7: 30,657,919 (GRCm39) E347A possibly damaging Het
Mapre2 C A 18: 23,966,014 (GRCm39) T33K probably damaging Het
Myo3b T A 2: 70,085,663 (GRCm39) F772I probably benign Het
Myorg C T 4: 41,497,900 (GRCm39) V577M possibly damaging Het
Nbas T C 12: 13,411,029 (GRCm39) V891A probably damaging Het
Neurl4 A T 11: 69,797,161 (GRCm39) I583F probably damaging Het
Nsd1 T C 13: 55,460,261 (GRCm39) S2163P probably damaging Het
Nup210l T C 3: 90,031,537 (GRCm39) Y288H probably damaging Het
Or10ak8 T C 4: 118,774,389 (GRCm39) T92A probably benign Het
Or4c107 A G 2: 88,789,025 (GRCm39) I72V probably benign Het
Pak1 A G 7: 97,520,794 (GRCm39) E151G probably benign Het
Phtf1 A G 3: 103,906,081 (GRCm39) N588D probably damaging Het
Prom2 T C 2: 127,371,391 (GRCm39) T756A possibly damaging Het
Ptgfrn C T 3: 100,967,952 (GRCm39) probably null Het
Seh1l T C 18: 67,922,483 (GRCm39) S279P probably benign Het
Sema3f A T 9: 107,564,411 (GRCm39) M35K probably damaging Het
Spesp1 T C 9: 62,180,416 (GRCm39) E164G possibly damaging Het
Sprr3 T C 3: 92,364,473 (GRCm39) T124A possibly damaging Het
Trim24 A C 6: 37,942,434 (GRCm39) probably null Het
Unc79 A G 12: 103,148,418 (GRCm39) probably benign Het
Vmn2r77 T A 7: 86,444,342 (GRCm39) probably benign Het
Other mutations in Alg12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0077:Alg12 UTSW 15 88,700,181 (GRCm39) missense probably damaging 1.00
R0365:Alg12 UTSW 15 88,700,352 (GRCm39) missense possibly damaging 0.80
R0485:Alg12 UTSW 15 88,695,630 (GRCm39) missense probably benign 0.00
R0726:Alg12 UTSW 15 88,690,850 (GRCm39) missense probably damaging 1.00
R2064:Alg12 UTSW 15 88,696,318 (GRCm39) missense probably damaging 1.00
R3404:Alg12 UTSW 15 88,698,782 (GRCm39) missense probably damaging 0.98
R4567:Alg12 UTSW 15 88,690,556 (GRCm39) intron probably benign
R4718:Alg12 UTSW 15 88,690,256 (GRCm39) missense probably damaging 1.00
R4896:Alg12 UTSW 15 88,700,391 (GRCm39) missense probably damaging 1.00
R4903:Alg12 UTSW 15 88,698,743 (GRCm39) missense probably damaging 0.98
R5059:Alg12 UTSW 15 88,695,659 (GRCm39) missense probably damaging 1.00
R7274:Alg12 UTSW 15 88,690,910 (GRCm39) missense probably damaging 1.00
R8176:Alg12 UTSW 15 88,690,084 (GRCm39) missense possibly damaging 0.82
R8358:Alg12 UTSW 15 88,695,503 (GRCm39) missense probably null 0.01
R8445:Alg12 UTSW 15 88,698,689 (GRCm39) missense probably benign
R9471:Alg12 UTSW 15 88,690,621 (GRCm39) nonsense probably null
R9771:Alg12 UTSW 15 88,700,373 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16