Incidental Mutation 'IGL01527:Uap1l1'
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ID89623
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: 0.115) question?
Stock #IGL01527
Quality Score
Status
Chromosome2
Chromosomal Location25359889-25365682 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 25363804 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102925]
Predicted Effect probably null
Transcript: ENSMUST00000102925
SMART Domains Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,567,833 probably null Het
Abca13 T A 11: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Esrp2 T C 8: 106,132,233 T591A probably benign Het
Gap43 C T 16: 42,292,153 E82K probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Slc44a3 A G 3: 121,527,128 C75R probably damaging Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in Uap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02437:Uap1l1 APN 2 25363933 missense probably damaging 1.00
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 On2013-12-03