Incidental Mutation 'IGL02437:Uap1l1'
ID293322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uap1l1
Ensembl Gene ENSMUSG00000026956
Gene NameUDP-N-acteylglucosamine pyrophosphorylase 1-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL02437
Quality Score
Status
Chromosome2
Chromosomal Location25359889-25365682 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 25363933 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 304 (V304M)
Ref Sequence ENSEMBL: ENSMUSP00000099989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102925]
Predicted Effect probably damaging
Transcript: ENSMUST00000102925
AA Change: V304M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956
AA Change: V304M

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
Pfam:UDPGP 68 453 2.1e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152537
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Uap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Uap1l1 APN 2 25363804 critical splice donor site probably null
R0522:Uap1l1 UTSW 2 25363277 missense probably damaging 1.00
R1067:Uap1l1 UTSW 2 25362747 missense probably damaging 1.00
R4735:Uap1l1 UTSW 2 25362720 missense probably damaging 1.00
R4808:Uap1l1 UTSW 2 25362085 missense probably damaging 1.00
R4884:Uap1l1 UTSW 2 25362828 missense probably damaging 0.97
R5042:Uap1l1 UTSW 2 25362085 missense possibly damaging 0.93
R5560:Uap1l1 UTSW 2 25362676 missense probably benign
R5633:Uap1l1 UTSW 2 25363349 missense probably benign
R5634:Uap1l1 UTSW 2 25364133 missense probably damaging 1.00
R5910:Uap1l1 UTSW 2 25363433 intron probably benign
R5973:Uap1l1 UTSW 2 25364630 missense possibly damaging 0.92
R6187:Uap1l1 UTSW 2 25362729 missense probably damaging 0.98
R6966:Uap1l1 UTSW 2 25364938 missense probably damaging 1.00
R7161:Uap1l1 UTSW 2 25363280 missense probably damaging 1.00
R7356:Uap1l1 UTSW 2 25361684 missense possibly damaging 0.60
Posted On2015-04-16