Incidental Mutation 'R5059:Alg12'
ID 386533
Institutional Source Beutler Lab
Gene Symbol Alg12
Ensembl Gene ENSMUSG00000035845
Gene Name ALG12 alpha-1,6-mannosyltransferase
Synonyms ECM39, mannosyltransferase
MMRRC Submission 042649-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R5059 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 88689448-88703498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88695659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 279 (F279S)
Ref Sequence ENSEMBL: ENSMUSP00000123935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]
AlphaFold Q8VDB2
Predicted Effect probably benign
Transcript: ENSMUST00000043087
SMART Domains Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845

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

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 169 6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160222
Predicted Effect probably damaging
Transcript: ENSMUST00000162183
AA Change: F279S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845
AA Change: F279S

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 406 3.3e-44 PFAM
Meta Mutation Damage Score 0.4680 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,973,637 (GRCm39) N455I probably damaging Het
Angpt4 A G 2: 151,776,360 (GRCm39) D296G probably damaging Het
Ank1 T A 8: 23,586,204 (GRCm39) S437T probably damaging Het
Apol7a G A 15: 77,274,012 (GRCm39) probably benign Het
Arhgef38 T A 3: 132,843,175 (GRCm39) Y465F probably damaging Het
Atp8a2 T G 14: 59,928,986 (GRCm39) T1023P probably benign Het
Cdh20 C A 1: 109,993,430 (GRCm39) A295E probably damaging Het
Cela3b T C 4: 137,152,181 (GRCm39) E92G probably benign Het
Cntnap5a T C 1: 116,356,224 (GRCm39) S752P probably benign Het
Dlx2 T C 2: 71,376,585 (GRCm39) H51R probably damaging Het
Dnm2 T C 9: 21,415,874 (GRCm39) I736T probably damaging Het
Dst A G 1: 34,202,427 (GRCm39) T252A possibly damaging Het
Fbxo40 T C 16: 36,790,658 (GRCm39) R151G possibly damaging Het
Gapdhs C T 7: 30,431,410 (GRCm39) A357T probably benign Het
Gon4l T A 3: 88,807,319 (GRCm39) M1671K probably benign Het
Gpi1 T C 7: 33,907,113 (GRCm39) Y327C probably damaging Het
Gucy2g T C 19: 55,214,503 (GRCm39) R542G probably benign Het
Hectd3 A G 4: 116,854,361 (GRCm39) K308E possibly damaging Het
Hip1 A G 5: 135,478,675 (GRCm39) F178S probably damaging Het
Hydin A G 8: 111,232,401 (GRCm39) D1640G probably damaging Het
Il18r1 G A 1: 40,520,227 (GRCm39) probably null Het
Kdm3b T C 18: 34,910,250 (GRCm39) S23P possibly damaging Het
Lactb T C 9: 66,882,426 (GRCm39) E83G probably benign Het
Larp4 A T 15: 99,903,171 (GRCm39) D414V probably damaging Het
Map2k5 T C 9: 63,164,296 (GRCm39) H336R probably benign Het
Mast4 T C 13: 102,887,071 (GRCm39) E1006G probably damaging Het
Mbd5 T C 2: 49,146,467 (GRCm39) S226P probably damaging Het
Micall1 A T 15: 79,007,034 (GRCm39) probably benign Het
Mtpap T A 18: 4,375,827 (GRCm39) probably benign Het
Or52ae7 A T 7: 103,119,488 (GRCm39) K81* probably null Het
Or5p58 A G 7: 107,694,522 (GRCm39) L85P probably damaging Het
Pnrc1 G A 4: 33,246,072 (GRCm39) Q296* probably null Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Pramel28 A G 4: 143,691,565 (GRCm39) V386A probably damaging Het
Prkcsh T A 9: 21,924,046 (GRCm39) L439Q probably damaging Het
Prkdc T C 16: 15,655,882 (GRCm39) L3970P probably damaging Het
Ptcd1 G A 5: 145,089,034 (GRCm39) P542L probably benign Het
Rps6ka5 G A 12: 100,520,634 (GRCm39) T631I probably damaging Het
Rxfp1 T C 3: 79,570,619 (GRCm39) N271S probably benign Het
Taf6 A G 5: 138,177,709 (GRCm39) M541T probably benign Het
Tek T A 4: 94,692,551 (GRCm39) C169S probably benign Het
Tgfbr3l T A 8: 4,299,343 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,149 (GRCm39) N647D probably benign Het
Ube3c A G 5: 29,836,293 (GRCm39) K638R probably null Het
Vmn1r191 G A 13: 22,363,163 (GRCm39) A197V probably damaging Het
Vmn2r6 T C 3: 64,445,044 (GRCm39) T894A possibly damaging Het
Vstm4 T G 14: 32,585,687 (GRCm39) Y85D probably damaging Het
Wnt7a A G 6: 91,371,482 (GRCm39) I160T probably benign Het
Zc3h7a TAGAGAG TAGAGAGAG 16: 10,978,985 (GRCm39) probably null Het
Zfp988 A T 4: 147,416,372 (GRCm39) K269* probably null Het
Other mutations in Alg12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02557:Alg12 APN 15 88,700,410 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAAACCCTCACATATAGGTGCAG -3'
(R):5'- TATGCTGTGCCCAAGATCGG -3'

Sequencing Primer
(F):5'- TCACATATAGGTGCAGCCTCTGG -3'
(R):5'- TGTGCCCAAGATCGGTCATC -3'
Posted On 2016-06-06