Incidental Mutation 'R3404:Alg12'
Institutional Source Beutler Lab
Gene Symbol Alg12
Ensembl Gene ENSMUSG00000035845
Gene Nameasparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)
SynonymsECM39, mannosyltransferase
MMRRC Submission 040622-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.873) question?
Stock #R3404 (G1)
Quality Score225
Status Validated
Chromosomal Location88805244-88819318 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88814579 bp
Amino Acid Change Isoleucine to Asparagine at position 181 (I181N)
Ref Sequence ENSEMBL: ENSMUSP00000043480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]
Predicted Effect probably damaging
Transcript: ENSMUST00000043087
AA Change: I181N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845
AA Change: I181N

Pfam:Glyco_transf_22 15 267 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159328
SMART Domains Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845

Pfam:Glyco_transf_22 15 169 6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160222
Predicted Effect probably damaging
Transcript: ENSMUST00000162183
AA Change: I181N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
AA Change: I181N

Pfam:Glyco_transf_22 15 406 3.3e-44 PFAM
Meta Mutation Damage Score 0.5090 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,699,600 V1065M probably damaging Het
Alms1 C A 6: 85,667,963 probably benign Het
Ankar T A 1: 72,643,093 K1220* probably null Het
Apc A G 18: 34,313,602 T1150A probably benign Het
Baz1a C T 12: 54,916,989 S770N probably benign Het
Bcorl1 T A X: 48,371,007 M1139K probably benign Het
Bdkrb2 T C 12: 105,592,496 V332A possibly damaging Het
Bnc2 G T 4: 84,546,241 N20K probably damaging Het
Brip1 T A 11: 86,143,263 N544I possibly damaging Het
Cdc27 T C 11: 104,507,200 E778G probably damaging Het
Cyp2c66 T C 19: 39,163,327 V162A probably benign Het
Dnaic1 A T 4: 41,603,246 E176D probably benign Het
Dnhd1 C T 7: 105,694,761 Q1771* probably null Het
Fezf1 A T 6: 23,247,284 V264D probably benign Het
Gsdma T C 11: 98,673,138 probably benign Het
Hemk1 G A 9: 107,337,216 Q6* probably null Het
Hspa13 C A 16: 75,758,026 E391* probably null Het
Ighv1-53 T A 12: 115,158,438 T106S possibly damaging Het
Immp2l T A 12: 41,110,847 L48* probably null Het
Itgam A G 7: 128,070,703 probably null Het
Ltn1 A T 16: 87,416,215 V486D probably damaging Het
Mki67 T A 7: 135,707,475 T416S probably benign Het
Mycbp2 C A 14: 103,200,114 C2104F probably damaging Het
Nlrp2 T C 7: 5,319,287 D49G probably benign Het
Orc4 G A 2: 48,937,489 P31S probably benign Het
Pcdh17 T A 14: 84,446,622 D176E probably damaging Het
Prkd1 C T 12: 50,648,904 A24T unknown Het
Pzp G A 6: 128,513,806 T398M probably damaging Het
Rbfox3 T A 11: 118,496,457 Q277L possibly damaging Het
Rnf146 A G 10: 29,347,428 V154A possibly damaging Het
Senp7 T A 16: 56,188,277 W1007R probably damaging Het
Snx31 C T 15: 36,525,653 C300Y probably benign Het
Ticrr G C 7: 79,694,791 S1468T probably benign Het
Trim33 A G 3: 103,321,559 E327G probably damaging Het
Ubap2l T C 3: 90,038,850 E149G probably damaging Het
Ube4a A G 9: 44,929,687 S979P probably damaging Het
Uvssa G T 5: 33,389,818 G243C probably damaging Het
Vps13b T C 15: 35,926,054 S3834P probably damaging Het
Zfp609 A T 9: 65,701,172 M1142K possibly damaging Het
Zfp729b T G 13: 67,591,164 H994P probably damaging Het
Other mutations in Alg12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02557:Alg12 APN 15 88816207 nonsense probably null
R0077:Alg12 UTSW 15 88815978 missense probably damaging 1.00
R0365:Alg12 UTSW 15 88816149 missense possibly damaging 0.80
R0485:Alg12 UTSW 15 88811427 missense probably benign 0.00
R0726:Alg12 UTSW 15 88806647 missense probably damaging 1.00
R2064:Alg12 UTSW 15 88812115 missense probably damaging 1.00
R4567:Alg12 UTSW 15 88806353 intron probably benign
R4718:Alg12 UTSW 15 88806053 missense probably damaging 1.00
R4896:Alg12 UTSW 15 88816188 missense probably damaging 1.00
R4903:Alg12 UTSW 15 88814540 missense probably damaging 0.98
R5059:Alg12 UTSW 15 88811456 missense probably damaging 1.00
R7274:Alg12 UTSW 15 88806707 missense probably damaging 1.00
R8176:Alg12 UTSW 15 88805881 missense possibly damaging 0.82
R8358:Alg12 UTSW 15 88811300 missense probably null 0.01
R8445:Alg12 UTSW 15 88814486 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-01-23