Incidental Mutation 'IGL01894:Nipal1'
ID179335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipal1
Ensembl Gene ENSMUSG00000067219
Gene NameNIPA-like domain containing 1
Synonyms3830408G10Rik, Npal1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01894
Quality Score
Status
Chromosome5
Chromosomal Location72647795-72671078 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72663539 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 37 (A37T)
Ref Sequence ENSEMBL: ENSMUSP00000143667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]
Predicted Effect probably benign
Transcript: ENSMUST00000087212
AA Change: A126T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: A126T

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 66 360 6e-136 PFAM
Pfam:EamA 107 186 1.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197772
Predicted Effect probably benign
Transcript: ENSMUST00000197837
AA Change: A37T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: A37T

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 3 96 2.1e-45 PFAM
Pfam:EamA 17 96 2.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 55,871,830 I530L probably benign Het
Adam3 T C 8: 24,687,938 D653G probably benign Het
Car13 T C 3: 14,661,465 F227S probably damaging Het
Cdc27 T C 11: 104,526,921 N300S probably benign Het
Fat3 C T 9: 16,375,849 V793I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpa33 T A 1: 166,165,216 D299E probably benign Het
Kif5a C T 10: 127,262,779 V40I probably benign Het
Lama3 A G 18: 12,572,064 H1455R probably benign Het
Lamc1 T C 1: 153,247,082 K751E possibly damaging Het
Nek5 T A 8: 22,113,819 H114L probably damaging Het
Olfr1446 T C 19: 12,889,643 probably benign Het
Olfr1453 G T 19: 13,028,285 L15I probably damaging Het
Olfr538 T C 7: 140,574,770 Y206H possibly damaging Het
Pik3ca T C 3: 32,450,026 Y622H possibly damaging Het
Pknox2 G T 9: 36,923,742 H144N probably damaging Het
Ppp4r4 A G 12: 103,593,138 Y526C probably damaging Het
Prdm10 A G 9: 31,316,261 D54G probably damaging Het
Rpn2 C T 2: 157,294,173 T167I probably benign Het
Slc22a30 G T 19: 8,386,657 H218Q probably benign Het
Supt6 A G 11: 78,222,838 S878P probably benign Het
Tmem184c A T 8: 77,597,146 C362* probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wscd2 C T 5: 113,572,296 R294W probably damaging Het
Other mutations in Nipal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Nipal1 APN 5 72658724 missense probably benign
IGL01962:Nipal1 APN 5 72668058 missense possibly damaging 0.50
IGL02145:Nipal1 APN 5 72666931 missense probably damaging 1.00
IGL02902:Nipal1 APN 5 72668062 missense possibly damaging 0.49
IGL02934:Nipal1 APN 5 72647907 missense probably damaging 1.00
IGL03024:Nipal1 APN 5 72663625 critical splice donor site probably null
IGL03237:Nipal1 APN 5 72666807 missense probably damaging 0.99
R0848:Nipal1 UTSW 5 72667840 missense probably damaging 0.99
R1024:Nipal1 UTSW 5 72667991 frame shift probably null
R2106:Nipal1 UTSW 5 72663559 missense probably damaging 0.99
R2883:Nipal1 UTSW 5 72667730 missense probably damaging 1.00
R2932:Nipal1 UTSW 5 72667635 missense possibly damaging 0.46
R5364:Nipal1 UTSW 5 72667900 missense probably damaging 1.00
R6175:Nipal1 UTSW 5 72663555 missense probably damaging 1.00
R6523:Nipal1 UTSW 5 72667608 missense probably damaging 0.97
R7185:Nipal1 UTSW 5 72666855 missense probably damaging 0.98
R7436:Nipal1 UTSW 5 72667641 missense probably benign 0.00
RF011:Nipal1 UTSW 5 72666813 missense probably damaging 1.00
Posted On2014-05-07