Incidental Mutation 'R1983:Pomgnt1'
ID 220115
Institutional Source Beutler Lab
Gene Symbol Pomgnt1
Ensembl Gene ENSMUSG00000028700
Gene Name protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Synonyms 0610016I07Rik, 4930467B06Rik
MMRRC Submission 039995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1983 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116007700-116017041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116009117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 74 (P74Q)
Ref Sequence ENSEMBL: ENSMUSP00000112911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106494] [ENSMUST00000106496] [ENSMUST00000106498] [ENSMUST00000120083] [ENSMUST00000121052]
AlphaFold Q91X88
Predicted Effect probably benign
Transcript: ENSMUST00000106494
AA Change: P52Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: P52Q

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
low complexity region 60 75 N/A INTRINSIC
PDB:2YOQ|C 106 195 6e-10 PDB
Pfam:GNT-I 271 591 3e-52 PFAM
low complexity region 623 636 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106496
AA Change: P74Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: P74Q

DomainStartEndE-ValueType
low complexity region 82 97 N/A INTRINSIC
PDB:2YOP|C 129 217 5e-10 PDB
Pfam:GNT-I 260 580 2.9e-52 PFAM
low complexity region 612 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106498
AA Change: P74Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: P74Q

DomainStartEndE-ValueType
low complexity region 82 97 N/A INTRINSIC
PDB:2YOQ|C 129 217 6e-10 PDB
Pfam:GNT-I 293 613 3.2e-52 PFAM
low complexity region 645 658 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120083
AA Change: P74Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: P74Q

DomainStartEndE-ValueType
low complexity region 82 97 N/A INTRINSIC
Pfam:ILEI 129 220 8.9e-28 PFAM
Pfam:GNT-I 293 612 1.9e-51 PFAM
low complexity region 645 658 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121052
AA Change: P74Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: P74Q

DomainStartEndE-ValueType
low complexity region 82 97 N/A INTRINSIC
PDB:2YOQ|C 129 217 6e-10 PDB
Pfam:GNT-I 293 613 3.2e-52 PFAM
low complexity region 645 658 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135982
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,272 (GRCm39) V133E probably damaging Het
Aco1 G A 4: 40,175,845 (GRCm39) G160S probably benign Het
Actn2 C T 13: 12,293,696 (GRCm39) R608H probably benign Het
Adora2a A C 10: 75,169,480 (GRCm39) S315R probably benign Het
Arhgap42 T C 9: 9,017,018 (GRCm39) Y382C probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg4c A G 4: 99,116,812 (GRCm39) Y318C probably damaging Het
Baz2a C T 10: 127,959,828 (GRCm39) T1408I probably benign Het
Bbx T A 16: 50,029,480 (GRCm39) Q663L possibly damaging Het
Bltp1 A G 3: 36,942,014 (GRCm39) D273G probably null Het
Btbd3 T G 2: 138,125,608 (GRCm39) L264R probably damaging Het
Cfi T C 3: 129,662,194 (GRCm39) I391T probably damaging Het
Chadl T C 15: 81,578,097 (GRCm39) I45V probably benign Het
Chd5 C A 4: 152,469,123 (GRCm39) A1853D possibly damaging Het
Cmas G T 6: 142,716,312 (GRCm39) D251Y probably damaging Het
Cyp2d10 A G 15: 82,290,200 (GRCm39) M90T probably benign Het
D630003M21Rik A G 2: 158,050,341 (GRCm39) F714L probably benign Het
Dguok A T 6: 83,464,110 (GRCm39) Y126* probably null Het
Dnai1 A G 4: 41,603,232 (GRCm39) K172E probably benign Het
Dnai2 T A 11: 114,626,682 (GRCm39) probably null Het
Efcab6 A T 15: 83,777,163 (GRCm39) probably benign Het
Eln A T 5: 134,765,194 (GRCm39) probably null Het
Epor T C 9: 21,870,696 (GRCm39) T395A probably benign Het
Evc2 G T 5: 37,573,275 (GRCm39) E996* probably null Het
Fam124b T A 1: 80,191,364 (GRCm39) E6D probably benign Het
Filip1 T A 9: 79,767,374 (GRCm39) K146N probably damaging Het
Filip1l T C 16: 57,391,637 (GRCm39) S742P probably damaging Het
Fsip2 G T 2: 82,810,175 (GRCm39) V2165L probably benign Het
Gcdh A T 8: 85,617,539 (GRCm39) V227E possibly damaging Het
Gm12185 T C 11: 48,806,183 (GRCm39) N336S probably benign Het
Gm12695 G T 4: 96,627,214 (GRCm39) A399E possibly damaging Het
Gm16503 T A 4: 147,625,749 (GRCm39) V81E unknown Het
Gpr137c T C 14: 45,517,428 (GRCm39) V388A probably benign Het
Hgf A G 5: 16,766,010 (GRCm39) T49A possibly damaging Het
Hspa1a G T 17: 35,189,938 (GRCm39) R322S probably benign Het
Jak3 A T 8: 72,131,019 (GRCm39) Q13L possibly damaging Het
Jak3 A G 8: 72,140,780 (GRCm39) R1098G probably benign Het
Kif11 C T 19: 37,379,224 (GRCm39) T305I possibly damaging Het
Lcor T A 19: 41,546,806 (GRCm39) V130E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp1b C T 2: 41,401,416 (GRCm39) probably null Het
Mdga1 G A 17: 30,069,579 (GRCm39) R430C probably damaging Het
Mfsd12 T A 10: 81,198,090 (GRCm39) probably null Het
Mmp27 T A 9: 7,578,898 (GRCm39) probably null Het
Mtnr1a A T 8: 45,540,471 (GRCm39) N144I probably benign Het
Mycbp2 T C 14: 103,383,407 (GRCm39) T3563A probably damaging Het
Myef2 T A 2: 124,940,765 (GRCm39) M355L probably benign Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or5b104 A G 19: 13,072,748 (GRCm39) I88T probably benign Het
Or5p51 C T 7: 107,444,619 (GRCm39) G107D probably benign Het
Or8k27 T A 2: 86,275,420 (GRCm39) H302L probably benign Het
Parg A G 14: 31,939,653 (GRCm39) K560E probably damaging Het
Pck2 G A 14: 55,781,525 (GRCm39) probably null Het
Pdcd6 T C 13: 74,452,119 (GRCm39) I174V probably benign Het
Prdm4 T C 10: 85,743,817 (GRCm39) Y146C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prune2 A G 19: 16,998,006 (GRCm39) M248V probably damaging Het
Ric8b T A 10: 84,837,702 (GRCm39) M503K probably damaging Het
Ror2 C T 13: 53,264,444 (GRCm39) V871M probably benign Het
Ryr1 T C 7: 28,758,897 (GRCm39) N3427S possibly damaging Het
Ryr2 A G 13: 11,600,288 (GRCm39) probably null Het
Scimp C T 11: 70,691,540 (GRCm39) V30I probably damaging Het
Skint4 A G 4: 112,003,689 (GRCm39) E374G probably benign Het
Slc6a20a A G 9: 123,469,652 (GRCm39) Y482H probably damaging Het
Slitrk5 A G 14: 111,917,821 (GRCm39) S482G probably benign Het
Spopfm2 T G 3: 94,083,601 (GRCm39) D70A possibly damaging Het
Strc T A 2: 121,201,518 (GRCm39) M1229L possibly damaging Het
Tasor2 G T 13: 3,624,853 (GRCm39) T1699K possibly damaging Het
Terf2 T C 8: 107,809,640 (GRCm39) Y226C probably damaging Het
Tex10 A T 4: 48,460,059 (GRCm39) L431I possibly damaging Het
Tnc A G 4: 63,902,867 (GRCm39) V1470A possibly damaging Het
Ttll13 T C 7: 79,903,364 (GRCm39) I248T possibly damaging Het
Ttn T C 2: 76,619,369 (GRCm39) N16031S possibly damaging Het
Ttn T A 2: 76,587,104 (GRCm39) K21631M probably damaging Het
Uroc1 A T 6: 90,322,351 (GRCm39) S292C probably damaging Het
Vmn1r80 A T 7: 11,927,588 (GRCm39) M233L probably benign Het
Wdr31 A T 4: 62,378,840 (GRCm39) M129K probably damaging Het
Wnk1 A T 6: 119,914,539 (GRCm39) N1754K probably damaging Het
Xirp1 G A 9: 119,845,695 (GRCm39) Q1063* probably null Het
Zfp799 C A 17: 33,041,084 (GRCm39) V32L probably damaging Het
Zfyve9 A T 4: 108,546,386 (GRCm39) D874E possibly damaging Het
Other mutations in Pomgnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Pomgnt1 APN 4 116,009,958 (GRCm39) missense probably damaging 1.00
IGL02001:Pomgnt1 APN 4 116,010,105 (GRCm39) nonsense probably null
IGL02582:Pomgnt1 APN 4 116,015,747 (GRCm39) missense probably damaging 1.00
pomegranate UTSW 4 116,012,087 (GRCm39) missense probably damaging 1.00
R0206:Pomgnt1 UTSW 4 116,015,757 (GRCm39) critical splice donor site probably null
R0688:Pomgnt1 UTSW 4 116,013,086 (GRCm39) missense probably damaging 1.00
R0890:Pomgnt1 UTSW 4 116,009,382 (GRCm39) missense probably benign 0.25
R0927:Pomgnt1 UTSW 4 116,009,048 (GRCm39) missense probably damaging 1.00
R1942:Pomgnt1 UTSW 4 116,012,472 (GRCm39) splice site probably null
R1983:Pomgnt1 UTSW 4 116,009,066 (GRCm39) missense probably damaging 1.00
R2034:Pomgnt1 UTSW 4 116,015,124 (GRCm39) missense possibly damaging 0.87
R3721:Pomgnt1 UTSW 4 116,010,740 (GRCm39) splice site probably benign
R3774:Pomgnt1 UTSW 4 116,011,325 (GRCm39) missense probably damaging 1.00
R3775:Pomgnt1 UTSW 4 116,011,325 (GRCm39) missense probably damaging 1.00
R3815:Pomgnt1 UTSW 4 116,011,139 (GRCm39) critical splice donor site probably null
R3816:Pomgnt1 UTSW 4 116,011,139 (GRCm39) critical splice donor site probably null
R3817:Pomgnt1 UTSW 4 116,011,139 (GRCm39) critical splice donor site probably null
R3818:Pomgnt1 UTSW 4 116,011,139 (GRCm39) critical splice donor site probably null
R4447:Pomgnt1 UTSW 4 116,010,120 (GRCm39) missense possibly damaging 0.75
R4583:Pomgnt1 UTSW 4 116,015,691 (GRCm39) missense probably benign 0.03
R4616:Pomgnt1 UTSW 4 116,012,087 (GRCm39) missense probably damaging 1.00
R4690:Pomgnt1 UTSW 4 116,012,707 (GRCm39) missense probably damaging 1.00
R4717:Pomgnt1 UTSW 4 116,011,412 (GRCm39) missense possibly damaging 0.50
R4719:Pomgnt1 UTSW 4 116,012,972 (GRCm39) missense probably damaging 1.00
R4747:Pomgnt1 UTSW 4 116,013,396 (GRCm39) missense probably damaging 1.00
R5108:Pomgnt1 UTSW 4 116,013,453 (GRCm39) intron probably benign
R5569:Pomgnt1 UTSW 4 116,013,164 (GRCm39) missense probably damaging 1.00
R5821:Pomgnt1 UTSW 4 116,012,933 (GRCm39) missense probably benign 0.16
R5937:Pomgnt1 UTSW 4 116,011,110 (GRCm39) missense probably benign 0.01
R6052:Pomgnt1 UTSW 4 116,008,799 (GRCm39) missense possibly damaging 0.91
R6745:Pomgnt1 UTSW 4 116,011,080 (GRCm39) missense probably damaging 0.97
R6949:Pomgnt1 UTSW 4 116,011,351 (GRCm39) missense probably damaging 0.97
R7503:Pomgnt1 UTSW 4 116,009,949 (GRCm39) missense possibly damaging 0.76
R7876:Pomgnt1 UTSW 4 116,015,106 (GRCm39) missense probably damaging 1.00
R8464:Pomgnt1 UTSW 4 116,009,348 (GRCm39) missense probably damaging 1.00
R9415:Pomgnt1 UTSW 4 116,013,378 (GRCm39) missense probably damaging 1.00
T0722:Pomgnt1 UTSW 4 115,994,624 (GRCm39) unclassified probably benign
T0975:Pomgnt1 UTSW 4 115,994,624 (GRCm39) unclassified probably benign
Z1177:Pomgnt1 UTSW 4 116,009,906 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TCATACTTTCAGAAGGCCCTTG -3'
(R):5'- TGGAGTATACTTCCACATCCAGC -3'

Sequencing Primer
(F):5'- CAGAAGGCCCTTGTGATCTG -3'
(R):5'- AGGGGACTCCAGACGTCCTAG -3'
Posted On 2014-08-25