Incidental Mutation 'R3774:Pomt1'
ID 273484
Institutional Source Beutler Lab
Gene Symbol Pomt1
Ensembl Gene ENSMUSG00000039254
Gene Name protein-O-mannosyltransferase 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R3774 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32126652-32145017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32134262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 261 (H261R)
Ref Sequence ENSEMBL: ENSMUSP00000038722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]
AlphaFold Q8R2R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000036473
AA Change: H261R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: H261R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,638,734 (GRCm39) V213A probably benign Het
Ccndbp1 A G 2: 120,839,581 (GRCm39) K26R possibly damaging Het
Chrna10 T C 7: 101,763,535 (GRCm39) T87A probably benign Het
Col27a1 T A 4: 63,232,963 (GRCm39) N360K probably benign Het
Crispld2 T C 8: 120,756,005 (GRCm39) S325P probably damaging Het
Dgkd T A 1: 87,864,022 (GRCm39) I79N probably damaging Het
Dhdh T A 7: 45,131,362 (GRCm39) D157V probably benign Het
Dnajc15 A T 14: 78,094,377 (GRCm39) probably null Het
Fbxo44 G T 4: 148,241,051 (GRCm39) F179L probably damaging Het
Gm5565 T A 5: 146,095,419 (GRCm39) E192V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Itgav A G 2: 83,622,308 (GRCm39) E630G probably damaging Het
Iws1 T C 18: 32,213,048 (GRCm39) S159P probably damaging Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Krt32 A G 11: 99,978,947 (GRCm39) C36R probably benign Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Megf10 G A 18: 57,410,177 (GRCm39) G653S probably damaging Het
Mon1a A G 9: 107,778,502 (GRCm39) Y242C probably damaging Het
Msh6 G T 17: 88,293,609 (GRCm39) R788L probably damaging Het
Mttp T C 3: 137,820,024 (GRCm39) probably null Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Olfm5 T A 7: 103,811,056 (GRCm39) R27S possibly damaging Het
Or52n2b T A 7: 104,566,113 (GRCm39) Y130F probably benign Het
Palmd T C 3: 116,721,312 (GRCm39) E81G probably damaging Het
Pecr A G 1: 72,298,530 (GRCm39) F297L probably benign Het
Phf11b A G 14: 59,563,506 (GRCm39) L137S probably benign Het
Phlpp1 GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGCAGC 1: 106,320,921 (GRCm39) probably benign Het
Plcb4 A G 2: 135,800,065 (GRCm39) K472E probably benign Het
Pomgnt1 G A 4: 116,011,325 (GRCm39) R230H probably damaging Het
Ppm1d T C 11: 85,227,993 (GRCm39) I303T probably damaging Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rad23b C T 4: 55,382,589 (GRCm39) T264I possibly damaging Het
Rfc1 T C 5: 65,421,749 (GRCm39) Y1050C probably damaging Het
Septin8 T C 11: 53,428,406 (GRCm39) V352A probably damaging Het
Slc25a13 T A 6: 6,109,288 (GRCm39) Q358L probably damaging Het
Ssh1 T C 5: 114,104,783 (GRCm39) D12G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Trpm3 T C 19: 22,955,966 (GRCm39) F1143L possibly damaging Het
Trpm3 T A 19: 22,965,339 (GRCm39) S1611R probably benign Het
Ttyh3 A G 5: 140,634,489 (GRCm39) F32L probably damaging Het
Unkl T A 17: 25,407,381 (GRCm39) probably null Het
Vwf T A 6: 125,626,062 (GRCm39) probably null Het
Wdr11 T A 7: 129,233,417 (GRCm39) probably null Het
Yeats2 A G 16: 19,969,245 (GRCm39) D12G probably damaging 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
R3933:Pomt1 UTSW 2 32,135,631 (GRCm39) missense probably benign 0.00
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
Posted On 2015-03-25