Incidental Mutation 'R7647:Alg14'
ID 590581
Institutional Source Beutler Lab
Gene Symbol Alg14
Ensembl Gene ENSMUSG00000039887
Gene Name asparagine-linked glycosylation 14
Synonyms 5430428G01Rik
MMRRC Submission 045725-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7647 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 121085422-121156743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121155334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 185 (S185P)
Ref Sequence ENSEMBL: ENSMUSP00000038387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039442] [ENSMUST00000199554]
AlphaFold Q9D081
Predicted Effect probably damaging
Transcript: ENSMUST00000039442
AA Change: S185P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038387
Gene: ENSMUSG00000039887
AA Change: S185P

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:Alg14 39 216 1.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199554
SMART Domains Protein: ENSMUSP00000142857
Gene: ENSMUSG00000039887

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,564,803 (GRCm39) T22K possibly damaging Het
Abca7 G T 10: 79,836,656 (GRCm39) M344I probably benign Het
Atg13 A T 2: 91,519,006 (GRCm39) H146Q possibly damaging Het
Atmin T G 8: 117,684,661 (GRCm39) F774V possibly damaging Het
Ccdc150 A G 1: 54,395,863 (GRCm39) D782G probably damaging Het
Ccdc86 A G 19: 10,926,363 (GRCm39) S79P unknown Het
Cd180 A T 13: 102,842,451 (GRCm39) E499V probably damaging Het
Cd24a C T 10: 43,458,747 (GRCm39) H73Y unknown Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chil3 A G 3: 106,056,122 (GRCm39) L344S possibly damaging Het
Cspp1 A G 1: 10,206,162 (GRCm39) D1129G probably benign Het
Cyth1 C A 11: 118,068,114 (GRCm39) V288L probably benign Het
Ddx19a A T 8: 111,703,259 (GRCm39) probably null Het
Dpysl4 T A 7: 138,679,689 (GRCm39) Y520N possibly damaging Het
Eif4b T A 15: 101,997,129 (GRCm39) M249K unknown Het
Enam G A 5: 88,650,884 (GRCm39) D798N probably benign Het
Fcgbpl1 A G 7: 27,839,470 (GRCm39) K428E probably benign Het
Gldc A G 19: 30,096,067 (GRCm39) V648A probably damaging Het
Gm7995 A G 14: 42,133,308 (GRCm39) I62V possibly damaging Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Kdm5a T A 6: 120,404,747 (GRCm39) S1330T probably benign Het
Mon2 G T 10: 122,841,931 (GRCm39) P1553Q probably benign Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nphs1 T A 7: 30,181,390 (GRCm39) probably null Het
Nsd1 A G 13: 55,447,648 (GRCm39) T1924A probably damaging Het
Obscn T A 11: 58,888,113 (GRCm39) probably null Het
Or11l3 A T 11: 58,516,029 (GRCm39) V281D probably damaging Het
Or52h9 T C 7: 104,202,893 (GRCm39) F256L probably benign Het
Or6c213 A T 10: 129,574,070 (GRCm39) C239S probably damaging Het
Or6c6 T C 10: 129,187,326 (GRCm39) V298A probably benign Het
Pcsk1 A G 13: 75,280,329 (GRCm39) D718G possibly damaging Het
Pitrm1 A T 13: 6,605,444 (GRCm39) N158I probably damaging Het
Pkd1l1 C T 11: 8,897,296 (GRCm39) V538M Het
Prkdc G T 16: 15,555,807 (GRCm39) G2194C probably damaging Het
Psmc5 T C 11: 106,152,433 (GRCm39) M150T possibly damaging Het
Rint1 T C 5: 24,005,800 (GRCm39) Y161H probably damaging Het
Sdk2 T C 11: 113,684,563 (GRCm39) K1966R probably damaging Het
Sgcb A T 5: 73,796,720 (GRCm39) probably null Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Sp100 A G 1: 85,619,764 (GRCm39) K353E possibly damaging Het
Ssh1 T C 5: 114,081,019 (GRCm39) T804A probably benign Het
Vipr1 T C 9: 121,482,905 (GRCm39) L40P possibly damaging Het
Vmn1r7 A G 6: 57,002,255 (GRCm39) S2P probably benign Het
Vwa8 T C 14: 79,172,669 (GRCm39) S304P probably damaging Het
Zbed4 T C 15: 88,665,924 (GRCm39) M664T probably damaging Het
Other mutations in Alg14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Alg14 APN 3 121,155,232 (GRCm39) missense probably benign 0.04
R0833:Alg14 UTSW 3 121,092,259 (GRCm39) missense probably damaging 1.00
R0836:Alg14 UTSW 3 121,092,259 (GRCm39) missense probably damaging 1.00
R1847:Alg14 UTSW 3 121,155,415 (GRCm39) missense probably damaging 0.99
R5858:Alg14 UTSW 3 121,113,737 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AGGGTTTTAAATTCAGAATGGCCC -3'
(R):5'- TGCAGACATAGCTACTTGATGG -3'

Sequencing Primer
(F):5'- GGCCCACTAAAAACGGTTTTCTG -3'
(R):5'- GCTAAAGTTTGTCTTTCTTCATTGAG -3'
Posted On 2019-10-24