Incidental Mutation 'R5858:Alg14'
ID 454995
Institutional Source Beutler Lab
Gene Symbol Alg14
Ensembl Gene ENSMUSG00000039887
Gene Name asparagine-linked glycosylation 14
Synonyms 5430428G01Rik
MMRRC Submission 044070-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5858 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 121085422-121156743 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 121113737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039442] [ENSMUST00000198235] [ENSMUST00000198341] [ENSMUST00000199554]
AlphaFold Q9D081
Predicted Effect silent
Transcript: ENSMUST00000039442
SMART Domains Protein: ENSMUSP00000038387
Gene: ENSMUSG00000039887

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:Alg14 39 216 1.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198235
Predicted Effect silent
Transcript: ENSMUST00000198341
SMART Domains Protein: ENSMUSP00000142775
Gene: ENSMUSG00000039887

DomainStartEndE-ValueType
Pfam:Alg14 25 130 2.3e-25 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000199554
AA Change: V49I
SMART Domains Protein: ENSMUSP00000142857
Gene: ENSMUSG00000039887
AA Change: V49I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,781,343 (GRCm39) Q102L probably benign Het
Ak9 G A 10: 41,299,023 (GRCm39) V1575I unknown Het
Arl5a T C 2: 52,302,118 (GRCm39) I99V probably benign Het
Cacul1 T C 19: 60,517,482 (GRCm39) probably benign Het
Cc2d2a C T 5: 43,873,117 (GRCm39) R934C probably damaging Het
Ccr2 A G 9: 123,906,464 (GRCm39) E248G probably benign Het
Cds2 G T 2: 132,144,033 (GRCm39) V287L probably benign Het
Cflar T C 1: 58,793,010 (GRCm39) S459P probably benign Het
Clcc1 A G 3: 108,568,744 (GRCm39) D21G probably damaging Het
Col8a2 C T 4: 126,205,093 (GRCm39) probably benign Het
Cops7a A T 6: 124,937,134 (GRCm39) S186T possibly damaging Het
Dagla C T 19: 10,232,332 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,292 (GRCm39) Y49C possibly damaging Het
Dnase1 T C 16: 3,857,513 (GRCm39) probably benign Het
Dock9 A G 14: 121,866,204 (GRCm39) V633A probably benign Het
E4f1 A G 17: 24,664,302 (GRCm39) F461L probably damaging Het
Epg5 T A 18: 77,991,514 (GRCm39) C70* probably null Het
Ephb2 T C 4: 136,399,756 (GRCm39) H589R probably benign Het
Fam184b A T 5: 45,796,461 (GRCm39) C41S probably damaging Het
Hace1 A G 10: 45,587,621 (GRCm39) T907A possibly damaging Het
Il31 T A 5: 123,618,637 (GRCm39) T129S probably benign Het
Il6 A T 5: 30,218,472 (GRCm39) T23S possibly damaging Het
Kif12 T C 4: 63,084,647 (GRCm39) E557G probably benign Het
Krt24 A T 11: 99,175,591 (GRCm39) L148H probably damaging Het
Mapk8ip1 A G 2: 92,215,317 (GRCm39) F635S probably damaging Het
Mcc A T 18: 44,643,208 (GRCm39) V313E probably damaging Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Nbea A G 3: 55,860,455 (GRCm39) probably null Het
Or12e10 A T 2: 87,640,985 (GRCm39) I274F probably benign Het
Or2ag1 T A 7: 106,472,975 (GRCm39) Y159F probably benign Het
Or2m13 A G 16: 19,225,975 (GRCm39) S265P possibly damaging Het
Or5b94 A G 19: 12,651,743 (GRCm39) Y58C probably damaging Het
P4ha1 A T 10: 59,175,200 (GRCm39) L53F probably damaging Het
Pcdha7 A G 18: 37,109,279 (GRCm39) D768G probably damaging Het
Pdzd2 T A 15: 12,442,675 (GRCm39) D208V probably damaging Het
Ptk2 A T 15: 73,192,944 (GRCm39) I159K probably benign Het
Rfx6 A G 10: 51,601,964 (GRCm39) N761S probably benign Het
Rpp25l A T 4: 41,712,678 (GRCm39) D32E probably benign Het
Rxrg A T 1: 167,454,925 (GRCm39) K169N probably damaging Het
Ryr2 T C 13: 11,575,460 (GRCm39) D4846G probably damaging Het
Sec23a A G 12: 59,019,821 (GRCm39) F553S probably damaging Het
Spen T C 4: 141,201,182 (GRCm39) I2482V probably benign Het
Ston1 A G 17: 88,943,059 (GRCm39) D155G possibly damaging Het
Tha1 A G 11: 117,764,210 (GRCm39) F6L unknown Het
Trank1 T A 9: 111,221,604 (GRCm39) D2780E probably benign Het
Ubqln5 T C 7: 103,778,018 (GRCm39) T269A probably benign Het
Vars1 C T 17: 35,224,451 (GRCm39) R324C probably benign Het
Zfp287 T A 11: 62,604,833 (GRCm39) Q691H 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
R7647:Alg14 UTSW 3 121,155,334 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCCGACTTATTGACAAAATGGAC -3'
(R):5'- TTATCACTGGGCAGCTATATGAGAG -3'

Sequencing Primer
(F):5'- CGACTTATTGACAAAATGGACTTTGC -3'
(R):5'- GAGAGTTACTTTCTGACCTAAGGGAC -3'
Posted On 2017-02-10