Incidental Mutation 'R6183:Alg3'
ID 487642
Institutional Source Beutler Lab
Gene Symbol Alg3
Ensembl Gene ENSMUSG00000033809
Gene Name ALG3 alpha-1,3- mannosyltransferase
Synonyms D16Ertd36e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 20424208-20429515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20429391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 33 (Y33C)
Ref Sequence ENSEMBL: ENSMUSP00000156022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000079600] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000120394] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000231904] [ENSMUST00000231386] [ENSMUST00000231471] [ENSMUST00000231362] [ENSMUST00000231531] [ENSMUST00000232451] [ENSMUST00000232319] [ENSMUST00000231749] [ENSMUST00000232458] [ENSMUST00000231387]
AlphaFold Q8K2A8
Predicted Effect probably benign
Transcript: ENSMUST00000045918
AA Change: Y33C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
AA Change: Y33C

DomainStartEndE-ValueType
Pfam:ALG3 47 406 2.5e-145 PFAM
low complexity region 407 420 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079600
SMART Domains Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293

DomainStartEndE-ValueType
Pfam:Methyltransf_11 63 158 8.5e-8 PFAM
transmembrane domain 179 201 N/A INTRINSIC
Pfam:Peptidase_M13_N 233 618 1.2e-124 PFAM
Pfam:Peptidase_M13 677 880 1.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115522
SMART Domains Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 176 5.9e-11 PFAM
Pfam:Methyltransf_31 58 208 1.5e-10 PFAM
Pfam:Methyltransf_25 62 169 1.4e-7 PFAM
Pfam:Methyltransf_12 63 171 4.5e-9 PFAM
Pfam:Methyltransf_11 63 173 2.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119224
SMART Domains Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 166 1.9e-8 PFAM
Pfam:Methyltransf_25 62 142 1.7e-7 PFAM
Pfam:Methyltransf_11 63 164 5.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120394
SMART Domains Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 163 1.2e-8 PFAM
Pfam:Methyltransf_11 63 163 1.7e-9 PFAM
transmembrane domain 208 230 N/A INTRINSIC
Pfam:Peptidase_M13_N 262 647 5e-109 PFAM
Pfam:Peptidase_M13 706 909 9.4e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123774
AA Change: Y33C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809
AA Change: Y33C

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000127454
SMART Domains Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:ALG3 51 118 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147867
AA Change: Y33C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231904
AA Change: Y33C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231386
AA Change: Y33C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000231471
AA Change: Y33C

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000231362
AA Change: Y33C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000231531
Predicted Effect probably benign
Transcript: ENSMUST00000232451
Predicted Effect probably benign
Transcript: ENSMUST00000232319
Predicted Effect probably benign
Transcript: ENSMUST00000231749
Predicted Effect probably benign
Transcript: ENSMUST00000232458
Predicted Effect probably benign
Transcript: ENSMUST00000231387
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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 ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly damaging Het
Other mutations in Alg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Alg3 APN 16 20,426,608 (GRCm39) missense probably damaging 0.96
IGL01121:Alg3 APN 16 20,429,397 (GRCm39) missense probably damaging 1.00
IGL02121:Alg3 APN 16 20,425,285 (GRCm39) missense possibly damaging 0.55
R5487:Alg3 UTSW 16 20,426,530 (GRCm39) missense probably damaging 1.00
R6655:Alg3 UTSW 16 20,427,776 (GRCm39) missense probably benign 0.22
R6831:Alg3 UTSW 16 20,427,497 (GRCm39) missense probably damaging 0.98
R6890:Alg3 UTSW 16 20,424,736 (GRCm39) missense possibly damaging 0.91
R7122:Alg3 UTSW 16 20,426,602 (GRCm39) missense probably damaging 1.00
R7210:Alg3 UTSW 16 20,424,644 (GRCm39) missense unknown
R8871:Alg3 UTSW 16 20,424,684 (GRCm39) missense probably damaging 1.00
R9051:Alg3 UTSW 16 20,427,765 (GRCm39) missense probably benign 0.01
R9101:Alg3 UTSW 16 20,427,599 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTGGAAAATGGGCTTGGGTC -3'
(R):5'- GTTTGAGAAGACGCCCAGAG -3'

Sequencing Primer
(F):5'- GGTTTGATCGGTGAATGAAAGCTC -3'
(R):5'- GCGTGAGACCGGAACCTAGTG -3'
Posted On 2017-10-10