Incidental Mutation 'R5817:Pomt1'
ID 449073
Institutional Source Beutler Lab
Gene Symbol Pomt1
Ensembl Gene ENSMUSG00000039254
Gene Name protein-O-mannosyltransferase 1
Synonyms
MMRRC Submission 043397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R5817 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32126652-32145017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32138691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 436 (I436F)
Ref Sequence ENSEMBL: ENSMUSP00000038722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740]
AlphaFold Q8R2R1
Predicted Effect probably damaging
Transcript: ENSMUST00000036473
AA Change: I436F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: I436F

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 unknown
Transcript: ENSMUST00000192998
AA Change: I6F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151598
Meta Mutation Damage Score 0.6898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,497 (GRCm39) I251M probably benign Het
Abcf3 T C 16: 20,367,833 (GRCm39) V63A possibly damaging Het
Agpat4 C T 17: 12,434,097 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,890,720 (GRCm39) V292M probably damaging Het
Ahnak2 A T 12: 112,740,437 (GRCm39) F406I probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef5 G A 6: 43,252,038 (GRCm39) D930N probably benign Het
Cc2d2a G A 5: 43,869,760 (GRCm39) R887Q probably damaging Het
Ceacam18 A G 7: 43,291,265 (GRCm39) T236A probably benign Het
Chst15 A T 7: 131,870,873 (GRCm39) Y221N probably damaging Het
Chst15 G A 7: 131,870,876 (GRCm39) L220F probably damaging Het
Cntn2 G A 1: 132,446,486 (GRCm39) T784I probably benign Het
D630003M21Rik A G 2: 158,038,413 (GRCm39) L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 (GRCm39) D3894V probably damaging Het
Eif1ad19 G T 12: 87,740,201 (GRCm39) D119E probably benign Het
Fam13b T C 18: 34,590,850 (GRCm39) M443V possibly damaging Het
Fam20a T A 11: 109,564,244 (GRCm39) Q503L possibly damaging Het
Ftdc2 T C 16: 58,457,156 (GRCm39) I89V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm5454 T A 13: 103,493,140 (GRCm39) noncoding transcript Het
Gm5581 A G 6: 131,144,132 (GRCm39) noncoding transcript Het
Gm6619 A G 6: 131,463,400 (GRCm39) I6V unknown Het
Gmcl1 A G 6: 86,691,230 (GRCm39) M255T probably damaging Het
Golm2 T A 2: 121,736,525 (GRCm39) S231T probably benign Het
Gprc5c T A 11: 114,754,450 (GRCm39) C42* probably null Het
Hmcn1 T A 1: 150,613,275 (GRCm39) E1384V possibly damaging Het
Il6 A G 5: 30,223,006 (GRCm39) I91V probably benign Het
Kmt2d A T 15: 98,760,244 (GRCm39) S1005T unknown Het
Map1a A T 2: 121,129,391 (GRCm39) H143L possibly damaging Het
Mical2 A T 7: 111,922,866 (GRCm39) T624S probably benign Het
Msh3 A T 13: 92,422,508 (GRCm39) N549K possibly damaging Het
Ncr1 T A 7: 4,343,894 (GRCm39) I164N possibly damaging Het
Or10ak11 T G 4: 118,687,296 (GRCm39) T115P probably damaging Het
Or51a5 A T 7: 102,771,115 (GRCm39) M292K possibly damaging Het
Or52m1 A G 7: 102,289,585 (GRCm39) N44S probably damaging Het
Or8d2b A G 9: 38,788,673 (GRCm39) D67G probably damaging Het
Palmd T C 3: 116,712,272 (GRCm39) I541M probably benign Het
Pcsk7 A T 9: 45,837,331 (GRCm39) M552L probably benign Het
Plekhh2 A G 17: 84,879,154 (GRCm39) E626G possibly damaging Het
Pole G A 5: 110,460,838 (GRCm39) D1176N probably damaging Het
Polr2f T C 15: 79,035,869 (GRCm39) I110T probably damaging Het
Prag1 A C 8: 36,570,857 (GRCm39) Q480P probably damaging Het
Qars1 C T 9: 108,387,441 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,175,406 (GRCm39) S1797L probably damaging Het
Rbm26 T C 14: 105,366,039 (GRCm39) T832A probably damaging Het
Rnf169 A G 7: 99,574,976 (GRCm39) S540P probably benign Het
Serpini1 T A 3: 75,520,631 (GRCm39) M76K probably benign Het
Shq1 A G 6: 100,550,681 (GRCm39) L419S probably damaging Het
Slc25a17 G A 15: 81,211,261 (GRCm39) T225M probably damaging Het
Slc6a5 C A 7: 49,606,239 (GRCm39) L716I probably benign Het
Smc1b A G 15: 84,951,984 (GRCm39) V1149A probably damaging Het
Trappc1 A T 11: 69,215,060 (GRCm39) Q26L possibly damaging Het
Trpm2 C A 10: 77,801,814 (GRCm39) G84W probably damaging Het
Ttn G A 2: 76,573,010 (GRCm39) T24215M probably damaging Het
Ubn2 C A 6: 38,456,088 (GRCm39) T337K probably damaging Het
Ubr4 A G 4: 139,196,158 (GRCm39) K1265E probably damaging Het
Vmn1r214 T G 13: 23,219,491 (GRCm39) I328M probably damaging Het
Xcr1 C T 9: 123,684,922 (GRCm39) C280Y possibly damaging Het
Zc3h13 A G 14: 75,565,572 (GRCm39) E895G 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
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
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'- TTTGTGGCCAGCTTCCCTAG -3'
(R):5'- TTTCCCAATCCATGCCTGAGG -3'

Sequencing Primer
(F):5'- TTCCCTAGCCTTGGCAGG -3'
(R):5'- ATTGGGACATCTCAGACTTGC -3'
Posted On 2016-12-20