Incidental Mutation 'R7114:Pomt1'
ID 551663
Institutional Source Beutler Lab
Gene Symbol Pomt1
Ensembl Gene ENSMUSG00000039254
Gene Name protein-O-mannosyltransferase 1
Synonyms
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32126652-32145017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32143848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 671 (T671I)
Ref Sequence ENSEMBL: ENSMUSP00000038722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002625] [ENSMUST00000036473]
AlphaFold Q8R2R1
Predicted Effect probably benign
Transcript: ENSMUST00000002625
SMART Domains Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:CoaE 30 198 1.1e-8 PFAM
Pfam:AAA_17 31 188 3.8e-8 PFAM
Pfam:PRK 31 225 1.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036473
AA Change: T671I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: T671I

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: ENSMUST00000132516
Predicted Effect probably benign
Transcript: ENSMUST00000138133
SMART Domains Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550

DomainStartEndE-ValueType
Pfam:PRK 1 151 1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192998
Meta Mutation Damage Score 0.0939 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) 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
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
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'- AGTGTCATCAATCAGCCCAC -3'
(R):5'- ATCAGGGTCCTCTGCTCTAACC -3'

Sequencing Primer
(F):5'- AGTGTCATCAATCAGCCCACTTAGTC -3'
(R):5'- GGGTCCTCTGCTCTAACCAAAAG -3'
Posted On 2019-05-15