Incidental Mutation 'IGL02612:Alg11'
ID 300507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg11
Ensembl Gene ENSMUSG00000063362
Gene Name ALG11 alpha-1,2-mannosyltransferase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02612
Quality Score
Status
Chromosome 8
Chromosomal Location 22550737-22561643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22551999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 48 (R48G)
Ref Sequence ENSEMBL: ENSMUSP00000106365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000072572] [ENSMUST00000110737] [ENSMUST00000110738]
AlphaFold Q3TZM9
Predicted Effect probably benign
Transcript: ENSMUST00000006742
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567

DomainStartEndE-ValueType
Pfam:HMA 71 132 8.8e-14 PFAM
Pfam:HMA 156 217 6.6e-13 PFAM
Pfam:HMA 271 329 7.4e-13 PFAM
Pfam:HMA 364 425 1.1e-10 PFAM
Pfam:HMA 493 554 2.3e-14 PFAM
Pfam:HMA 569 630 3.1e-15 PFAM
transmembrane domain 656 675 N/A INTRINSIC
Pfam:E1-E2_ATPase 770 1018 3.3e-60 PFAM
Pfam:Hydrolase 1023 1276 1.3e-67 PFAM
Pfam:HAD 1026 1273 4.6e-10 PFAM
Pfam:Hydrolase_3 1243 1308 5.1e-7 PFAM
transmembrane domain 1322 1344 N/A INTRINSIC
low complexity region 1353 1370 N/A INTRINSIC
low complexity region 1418 1437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072572
AA Change: R48G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072382
Gene: ENSMUSG00000063362
AA Change: R48G

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:ALG11_N 62 269 2.6e-94 PFAM
Pfam:Glycos_transf_1 293 470 1.4e-30 PFAM
Pfam:Glyco_trans_1_4 301 454 8.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110737
AA Change: R48G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106365
Gene: ENSMUSG00000063362
AA Change: R48G

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
Pfam:Glycos_transf_1 248 428 3.8e-29 PFAM
Pfam:Glyco_trans_1_4 259 412 7.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110738
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567

DomainStartEndE-ValueType
Pfam:HMA 59 120 1.2e-13 PFAM
Pfam:HMA 144 205 9.7e-12 PFAM
PDB:2AW0|A 259 314 6e-6 PDB
Pfam:HMA 378 439 1.6e-13 PFAM
Pfam:HMA 454 515 1.5e-15 PFAM
transmembrane domain 541 560 N/A INTRINSIC
Pfam:E1-E2_ATPase 656 904 4.6e-50 PFAM
Pfam:Hydrolase 908 1161 6.6e-76 PFAM
Pfam:HAD 911 1158 1.5e-15 PFAM
Pfam:Hydrolase_3 1128 1193 8.5e-7 PFAM
transmembrane domain 1207 1229 N/A INTRINSIC
low complexity region 1238 1255 N/A INTRINSIC
low complexity region 1303 1322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131624
SMART Domains Protein: ENSMUSP00000119161
Gene: ENSMUSG00000063362

DomainStartEndE-ValueType
Pfam:ALG11_N 4 160 1.4e-60 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,971 (GRCm39) M1432L probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Bmp4 T A 14: 46,621,938 (GRCm39) D202V probably damaging Het
Car12 T G 9: 66,669,706 (GRCm39) L300R probably damaging Het
Cdc37l1 T A 19: 28,993,502 (GRCm39) *336R probably null Het
Cep89 A G 7: 35,124,080 (GRCm39) probably null Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,445,033 (GRCm39) D338G probably damaging Het
Crot A G 5: 9,019,945 (GRCm39) C466R probably damaging Het
Dach2 T C X: 112,660,101 (GRCm39) M194T probably benign Het
Dmrtc1b A G X: 101,756,873 (GRCm39) D100G probably benign Het
Epm2a G A 10: 11,332,980 (GRCm39) R271H probably damaging Het
Fem1c G T 18: 46,638,781 (GRCm39) T407K probably benign Het
Fer1l4 T C 2: 155,889,848 (GRCm39) Y273C probably damaging Het
Foxc2 C A 8: 121,844,576 (GRCm39) A408E probably benign Het
Gbp10 A T 5: 105,366,368 (GRCm39) M512K possibly damaging Het
Gm5134 T C 10: 75,828,323 (GRCm39) L301P probably damaging Het
Grk3 A T 5: 113,117,100 (GRCm39) D100E probably benign Het
Gsdma3 T A 11: 98,526,707 (GRCm39) D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 (GRCm39) L680I possibly damaging Het
Ighv7-2 T C 12: 113,875,766 (GRCm39) Y79C probably damaging Het
Igkv4-50 T C 6: 69,678,024 (GRCm39) T27A probably benign Het
Ints2 T C 11: 86,106,404 (GRCm39) D1002G probably damaging Het
Map4k5 T A 12: 69,896,358 (GRCm39) I169F possibly damaging Het
Mink1 T C 11: 70,488,052 (GRCm39) V39A probably damaging Het
Mms22l T A 4: 24,508,482 (GRCm39) H301Q probably benign Het
Myh4 C T 11: 67,147,305 (GRCm39) T1650I probably benign Het
Or52n4 A T 7: 104,293,870 (GRCm39) D234E probably benign Het
Or8b37 T A 9: 37,958,662 (GRCm39) L48Q probably damaging Het
Or8b44 T C 9: 38,410,769 (GRCm39) M268T probably benign Het
Pate10 T C 9: 35,653,460 (GRCm39) I88T possibly damaging Het
Pbxip1 C T 3: 89,350,988 (GRCm39) T117M probably damaging Het
Pgghg C T 7: 140,526,251 (GRCm39) T572M probably damaging Het
Phactr2 G A 10: 13,121,167 (GRCm39) T511I probably damaging Het
Pip5k1a T C 3: 94,974,724 (GRCm39) I385V probably benign Het
Pwp2 A G 10: 78,018,828 (GRCm39) C60R probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rttn G T 18: 88,991,750 (GRCm39) D110Y probably damaging Het
Setbp1 G T 18: 78,798,925 (GRCm39) H1418Q probably damaging Het
Sf3b3 T C 8: 111,569,608 (GRCm39) I37V probably benign Het
Slc27a6 A T 18: 58,689,977 (GRCm39) I148F probably benign Het
Slmap A G 14: 26,180,621 (GRCm39) probably benign Het
Speer4a3 A C 5: 26,156,614 (GRCm39) Y122D probably benign Het
Stil A G 4: 114,880,893 (GRCm39) Q479R possibly damaging Het
Svop A G 5: 114,166,321 (GRCm39) *549Q probably null Het
Tnks C T 8: 35,316,453 (GRCm39) V889I possibly damaging Het
Tnrc6c T A 11: 117,633,826 (GRCm39) V1308E possibly damaging Het
Vmn1r208 C A 13: 22,956,993 (GRCm39) C168F probably damaging Het
Vmn2r117 A T 17: 23,678,758 (GRCm39) M822K possibly damaging Het
Vwa8 A G 14: 79,420,552 (GRCm39) N1751S probably benign Het
Vwde A T 6: 13,187,148 (GRCm39) F780I probably damaging Het
Washc2 T C 6: 116,197,577 (GRCm39) I184T possibly damaging Het
Wdr26 A T 1: 181,005,361 (GRCm39) probably benign Het
Zfp608 G A 18: 55,031,273 (GRCm39) T889M probably damaging Het
Zfp955a G T 17: 33,463,039 (GRCm39) Q31K probably damaging Het
Zpbp2 T C 11: 98,446,343 (GRCm39) L145S probably benign Het
Other mutations in Alg11
AlleleSourceChrCoordTypePredicted EffectPPH Score
1mM(1):Alg11 UTSW 8 22,564,073 (GRCm39) missense probably benign
R0240:Alg11 UTSW 8 22,555,468 (GRCm39) missense possibly damaging 0.83
R1908:Alg11 UTSW 8 22,555,584 (GRCm39) missense probably damaging 1.00
R1980:Alg11 UTSW 8 22,551,903 (GRCm39) missense possibly damaging 0.69
R2090:Alg11 UTSW 8 22,555,646 (GRCm39) missense possibly damaging 0.80
R2147:Alg11 UTSW 8 22,555,309 (GRCm39) missense probably damaging 1.00
R2159:Alg11 UTSW 8 22,555,861 (GRCm39) missense probably benign 0.44
R2265:Alg11 UTSW 8 22,555,630 (GRCm39) missense probably benign
R2760:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R2761:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R2762:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R2763:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R2764:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R2877:Alg11 UTSW 8 22,555,374 (GRCm39) missense possibly damaging 0.93
R4165:Alg11 UTSW 8 22,555,573 (GRCm39) missense probably damaging 1.00
R4230:Alg11 UTSW 8 22,555,534 (GRCm39) missense probably damaging 1.00
R4370:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R4371:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R4447:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R4448:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R4450:Alg11 UTSW 8 22,558,095 (GRCm39) missense probably benign 0.00
R4840:Alg11 UTSW 8 22,558,026 (GRCm39) missense possibly damaging 0.91
R5859:Alg11 UTSW 8 22,555,857 (GRCm39) missense probably benign 0.10
R5988:Alg11 UTSW 8 22,552,044 (GRCm39) missense probably benign 0.00
R7293:Alg11 UTSW 8 22,555,395 (GRCm39) missense probably damaging 1.00
R7417:Alg11 UTSW 8 22,552,044 (GRCm39) missense probably benign 0.00
R7610:Alg11 UTSW 8 22,555,147 (GRCm39) missense probably damaging 1.00
R8388:Alg11 UTSW 8 22,552,050 (GRCm39) missense probably benign 0.03
R8708:Alg11 UTSW 8 22,555,129 (GRCm39) missense probably damaging 1.00
X0019:Alg11 UTSW 8 22,555,440 (GRCm39) missense probably benign 0.12
Posted On 2015-04-16