Incidental Mutation 'R3933:Pomt1'
ID 308540
Institutional Source Beutler Lab
Gene Symbol Pomt1
Ensembl Gene ENSMUSG00000039254
Gene Name protein-O-mannosyltransferase 1
Synonyms
MMRRC Submission 040920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R3933 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32126652-32145017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32135631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 332 (V332I)
Ref Sequence ENSEMBL: ENSMUSP00000038722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]
AlphaFold Q8R2R1
Predicted Effect probably benign
Transcript: ENSMUST00000036473
AA Change: V332I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: V332I

DomainStartEndE-ValueType
Pfam:PMT 42 289 2.8e-96 PFAM
MIR 318 381 7.45e-8 SMART
MIR 392 449 1.65e-9 SMART
MIR 456 513 6.2e-5 SMART
Pfam:PMT_4TMC 542 740 3.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123740
SMART Domains Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254

DomainStartEndE-ValueType
Pfam:PMT 20 233 1.3e-84 PFAM
Pfam:PMT_2 64 229 3.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129163
Predicted Effect probably benign
Transcript: ENSMUST00000132516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154684
Predicted Effect probably benign
Transcript: ENSMUST00000146485
SMART Domains Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254

DomainStartEndE-ValueType
Pfam:PMT 44 227 9e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192998
Meta Mutation Damage Score 0.0645 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Other mutations in Pomt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Pomt1 APN 2 32,131,784 (GRCm39) missense probably benign
IGL01926:Pomt1 APN 2 32,133,484 (GRCm39) missense probably benign 0.23
IGL02237:Pomt1 APN 2 32,135,689 (GRCm39) missense probably benign 0.18
IGL02281:Pomt1 APN 2 32,138,658 (GRCm39) missense possibly damaging 0.95
IGL03001:Pomt1 APN 2 32,134,338 (GRCm39) missense probably benign
IGL03216:Pomt1 APN 2 32,132,955 (GRCm39) missense probably damaging 0.99
IGL03343:Pomt1 APN 2 32,143,724 (GRCm39) splice site probably benign
R0049:Pomt1 UTSW 2 32,142,023 (GRCm39) missense possibly damaging 0.88
R0049:Pomt1 UTSW 2 32,142,023 (GRCm39) missense possibly damaging 0.88
R0975:Pomt1 UTSW 2 32,143,907 (GRCm39) critical splice donor site probably null
R1199:Pomt1 UTSW 2 32,140,504 (GRCm39) missense probably benign
R1414:Pomt1 UTSW 2 32,133,622 (GRCm39) splice site probably benign
R1421:Pomt1 UTSW 2 32,126,765 (GRCm39) unclassified probably benign
R1806:Pomt1 UTSW 2 32,131,680 (GRCm39) missense probably damaging 1.00
R2173:Pomt1 UTSW 2 32,140,912 (GRCm39) missense probably damaging 1.00
R2209:Pomt1 UTSW 2 32,140,874 (GRCm39) missense possibly damaging 0.90
R2302:Pomt1 UTSW 2 32,133,671 (GRCm39) missense probably benign 0.00
R3084:Pomt1 UTSW 2 32,134,252 (GRCm39) missense probably benign 0.02
R3774:Pomt1 UTSW 2 32,134,262 (GRCm39) missense possibly damaging 0.93
R4177:Pomt1 UTSW 2 32,138,689 (GRCm39) missense probably damaging 0.99
R4626:Pomt1 UTSW 2 32,144,424 (GRCm39) missense possibly damaging 0.84
R4645:Pomt1 UTSW 2 32,132,888 (GRCm39) intron probably benign
R4864:Pomt1 UTSW 2 32,142,004 (GRCm39) missense probably benign 0.02
R4911:Pomt1 UTSW 2 32,131,691 (GRCm39) missense probably damaging 0.97
R5143:Pomt1 UTSW 2 32,144,341 (GRCm39) missense probably benign 0.23
R5288:Pomt1 UTSW 2 32,134,311 (GRCm39) nonsense probably null
R5385:Pomt1 UTSW 2 32,134,311 (GRCm39) nonsense probably null
R5718:Pomt1 UTSW 2 32,138,704 (GRCm39) missense possibly damaging 0.91
R5735:Pomt1 UTSW 2 32,133,517 (GRCm39) missense probably damaging 1.00
R5754:Pomt1 UTSW 2 32,137,602 (GRCm39) missense probably damaging 0.99
R5817:Pomt1 UTSW 2 32,138,691 (GRCm39) missense probably damaging 0.97
R6304:Pomt1 UTSW 2 32,140,802 (GRCm39) missense probably damaging 1.00
R6477:Pomt1 UTSW 2 32,138,728 (GRCm39) splice site probably null
R6793:Pomt1 UTSW 2 32,132,961 (GRCm39) missense probably damaging 1.00
R6918:Pomt1 UTSW 2 32,142,873 (GRCm39) splice site probably null
R7114:Pomt1 UTSW 2 32,143,848 (GRCm39) missense probably benign 0.41
R8140:Pomt1 UTSW 2 32,134,309 (GRCm39) missense probably damaging 1.00
R8380:Pomt1 UTSW 2 32,135,619 (GRCm39) missense probably damaging 1.00
R9082:Pomt1 UTSW 2 32,142,973 (GRCm39) missense probably damaging 0.98
R9578:Pomt1 UTSW 2 32,133,543 (GRCm39) critical splice donor site probably null
Z1177:Pomt1 UTSW 2 32,127,101 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTTGGTCCAATGAGACAGCC -3'
(R):5'- TGGACACCACAAAAGGCCTG -3'

Sequencing Primer
(F):5'- CCCCATAGAAAGGGCAGCTG -3'
(R):5'- GCTCTTAGCAAACTGGGA -3'
Posted On 2015-04-17