Incidental Mutation 'IGL00093:Pomt1'
ID1906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomt1
Ensembl Gene ENSMUSG00000039254
Gene Nameprotein-O-mannosyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL00093
Quality Score
Status
Chromosome2
Chromosomal Location32236590-32255005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32241772 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 158 (I158V)
Ref Sequence ENSEMBL: ENSMUSP00000116117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]
Predicted Effect probably benign
Transcript: ENSMUST00000036473
AA Change: I156V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: I156V

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
AA Change: I134V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254
AA Change: I134V

DomainStartEndE-ValueType
Pfam:PMT 20 233 1.3e-84 PFAM
Pfam:PMT_2 64 229 3.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129163
Predicted Effect probably benign
Transcript: ENSMUST00000132516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132853
Predicted Effect probably benign
Transcript: ENSMUST00000146485
AA Change: I158V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254
AA Change: I158V

DomainStartEndE-ValueType
Pfam:PMT 44 227 9e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154684
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,653,560 D60G probably damaging Het
9230110C19Rik A G 9: 8,022,432 V263A probably benign Het
Abca2 T A 2: 25,445,963 probably null Het
Adamts14 C T 10: 61,229,676 R348H probably damaging Het
Aimp2 A T 5: 143,906,706 I22N probably damaging Het
Cacna1c A G 6: 118,676,444 probably benign Het
Cfap221 A T 1: 119,932,845 Y684N possibly damaging Het
Cldn6 T A 17: 23,681,724 probably benign Het
Copb2 A G 9: 98,568,077 M30V probably benign Het
Cyhr1 A G 15: 76,646,538 I194T probably damaging Het
Dcaf17 G A 2: 71,078,159 E243K probably benign Het
Dhx35 T C 2: 158,827,916 Y257H probably damaging Het
Dzank1 A T 2: 144,481,725 Y600* probably null Het
Fam208a T G 14: 27,448,206 L364R probably damaging Het
Flvcr1 T A 1: 191,015,489 R201* probably null Het
Fstl4 G A 11: 53,186,275 V620I probably benign Het
Gm21976 G A 13: 98,302,561 V20M probably benign Het
Ifi208 T C 1: 173,679,038 probably null Het
Kdm4c T C 4: 74,345,501 V674A probably benign Het
Lig1 T A 7: 13,301,452 Y612* probably null Het
Marco A G 1: 120,485,703 V295A probably benign Het
Myo5c T C 9: 75,242,880 probably benign Het
Olfr394 A G 11: 73,888,249 L41P probably damaging Het
Olfr643 T C 7: 104,059,416 Y62C probably damaging Het
Olfr815 T A 10: 129,902,659 D17V possibly damaging Het
Pkd1l1 A G 11: 8,961,971 M245T unknown Het
Ptpn21 A G 12: 98,680,468 W967R probably damaging Het
Rrp12 A T 19: 41,887,094 M270K possibly damaging Het
Spats2 A G 15: 99,180,593 E179G possibly damaging Het
Tapbp T C 17: 33,919,892 V11A probably benign Het
Tonsl A G 15: 76,638,496 F185S possibly damaging Het
Trpm1 A G 7: 64,243,450 I901V probably damaging Het
Tulp2 A G 7: 45,521,908 N371S probably damaging Het
Unc5d A T 8: 28,719,826 V433D probably damaging Het
Wasf3 G A 5: 146,455,651 R177Q probably damaging Het
Wdr63 C T 3: 146,083,004 G274E probably benign Het
Zfp715 A T 7: 43,299,749 H262Q possibly damaging Het
Other mutations in Pomt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Pomt1 APN 2 32243472 missense probably benign 0.23
IGL02237:Pomt1 APN 2 32245677 missense probably benign 0.18
IGL02281:Pomt1 APN 2 32248646 missense possibly damaging 0.95
IGL03001:Pomt1 APN 2 32244326 missense probably benign
IGL03216:Pomt1 APN 2 32242943 missense probably damaging 0.99
IGL03343:Pomt1 APN 2 32253712 splice site probably benign
R0049:Pomt1 UTSW 2 32252011 missense possibly damaging 0.88
R0049:Pomt1 UTSW 2 32252011 missense possibly damaging 0.88
R0975:Pomt1 UTSW 2 32253895 critical splice donor site probably null
R1199:Pomt1 UTSW 2 32250492 missense probably benign
R1414:Pomt1 UTSW 2 32243610 splice site probably benign
R1421:Pomt1 UTSW 2 32236753 unclassified probably benign
R1806:Pomt1 UTSW 2 32241668 missense probably damaging 1.00
R2173:Pomt1 UTSW 2 32250900 missense probably damaging 1.00
R2209:Pomt1 UTSW 2 32250862 missense possibly damaging 0.90
R2302:Pomt1 UTSW 2 32243659 missense probably benign 0.00
R3084:Pomt1 UTSW 2 32244240 missense probably benign 0.02
R3774:Pomt1 UTSW 2 32244250 missense possibly damaging 0.93
R3933:Pomt1 UTSW 2 32245619 missense probably benign 0.00
R4177:Pomt1 UTSW 2 32248677 missense probably damaging 0.99
R4626:Pomt1 UTSW 2 32254412 missense possibly damaging 0.84
R4645:Pomt1 UTSW 2 32242876 intron probably benign
R4864:Pomt1 UTSW 2 32251992 missense probably benign 0.02
R4911:Pomt1 UTSW 2 32241679 missense probably damaging 0.97
R5143:Pomt1 UTSW 2 32254329 missense probably benign 0.23
R5288:Pomt1 UTSW 2 32244299 nonsense probably null
R5385:Pomt1 UTSW 2 32244299 nonsense probably null
R5718:Pomt1 UTSW 2 32248692 missense possibly damaging 0.91
R5735:Pomt1 UTSW 2 32243505 missense probably damaging 1.00
R5754:Pomt1 UTSW 2 32247590 missense probably damaging 0.99
R5817:Pomt1 UTSW 2 32248679 missense probably damaging 0.97
R6304:Pomt1 UTSW 2 32250790 missense probably damaging 1.00
R6477:Pomt1 UTSW 2 32248716 splice site probably null
R6793:Pomt1 UTSW 2 32242949 missense probably damaging 1.00
R6918:Pomt1 UTSW 2 32252861 splice site probably null
R7114:Pomt1 UTSW 2 32253836 missense probably benign 0.41
R8140:Pomt1 UTSW 2 32244297 missense probably damaging 1.00
R8380:Pomt1 UTSW 2 32245607 missense probably damaging 1.00
Z1177:Pomt1 UTSW 2 32237089 start gained probably benign
Posted On2011-07-12