Incidental Mutation 'IGL02959:Peli2'
ID 365283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli2
Ensembl Gene ENSMUSG00000021846
Gene Name pellino 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02959
Quality Score
Status
Chromosome 14
Chromosomal Location 48120823-48281575 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48240297 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 99 (T99S)
Ref Sequence ENSEMBL: ENSMUSP00000072894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226828] [ENSMUST00000227362]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073150
AA Change: T99S

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: T99S

DomainStartEndE-ValueType
Pfam:Pellino 10 419 1.2e-223 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226260
Predicted Effect probably benign
Transcript: ENSMUST00000226828
Predicted Effect probably benign
Transcript: ENSMUST00000227362
AA Change: T48S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228519
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,567,060 A506D probably benign Het
Agap1 G T 1: 89,843,191 V635L possibly damaging Het
Akr1c12 T C 13: 4,279,332 K9E probably benign Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atm T C 9: 53,471,418 H1957R probably damaging Het
Bcr T C 10: 75,160,390 F922S probably benign Het
Cfap44 T A 16: 44,470,867 probably benign Het
Chil5 A G 3: 106,019,590 V243A probably damaging Het
Csmd1 A G 8: 15,910,465 C3317R probably damaging Het
Dsc1 T C 18: 20,108,885 K133R probably damaging Het
Ecm1 T A 3: 95,737,677 Q136L probably damaging Het
Fscn3 C A 6: 28,435,998 A431E possibly damaging Het
Gas7 C T 11: 67,674,235 probably benign Het
Gbx2 A G 1: 89,928,795 V291A probably damaging Het
Hipk3 G A 2: 104,471,259 T196M probably damaging Het
Il20ra T A 10: 19,759,041 N343K probably benign Het
Il24 C T 1: 130,885,733 W42* probably null Het
Kif13b A T 14: 64,767,717 I1153F probably damaging Het
Krt2 A T 15: 101,811,328 S636T unknown Het
Olfr1302 T A 2: 111,780,610 C97S probably damaging Het
Olfr215 A T 6: 116,582,544 M134K probably damaging Het
Olfr293 T C 7: 86,664,529 F289S probably damaging Het
Olfr539 C T 7: 140,667,550 P81S probably damaging Het
Olfr739 A T 14: 50,424,932 M138L possibly damaging Het
Osmr T C 15: 6,815,897 D796G possibly damaging Het
Pi4k2a A T 19: 42,113,071 K317N probably benign Het
Pik3r1 T G 13: 101,757,529 D44A probably benign Het
Pkhd1 G T 1: 20,608,416 S96* probably null Het
Plekha5 A G 6: 140,544,178 E9G probably damaging Het
Plekha8 T C 6: 54,615,269 F71S probably damaging Het
Polq G T 16: 37,086,566 L2296F probably damaging Het
Rbm5 G A 9: 107,754,185 probably benign Het
Rc3h2 T C 2: 37,405,354 K217E probably damaging Het
Scrib A G 15: 76,065,207 L350P probably damaging Het
Slc4a10 T A 2: 62,268,143 S540R probably damaging Het
Smc3 G T 19: 53,623,557 V354L probably benign Het
Smurf1 T A 5: 144,899,389 I105F probably damaging Het
Stx7 G T 10: 24,155,349 R17L probably benign Het
Tbca C T 13: 94,842,695 R74C probably benign Het
Tmem92 T C 11: 94,778,678 Q153R possibly damaging Het
Trim41 C A 11: 48,807,480 G553V probably damaging Het
Trim75 A T 8: 64,982,765 N344K possibly damaging Het
Tsr1 A G 11: 74,900,249 D218G probably benign Het
Ubr2 A C 17: 46,975,951 V474G probably damaging Het
Unc45a T G 7: 80,332,973 probably benign Het
Zfp609 C T 9: 65,703,393 A763T probably benign Het
Other mutations in Peli2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Peli2 APN 14 48252730 nonsense probably null
IGL01466:Peli2 APN 14 48256457 missense probably damaging 1.00
IGL01810:Peli2 APN 14 48256034 missense probably benign 0.00
IGL02379:Peli2 APN 14 48168298 missense probably damaging 1.00
IGL02870:Peli2 APN 14 48256265 missense probably damaging 1.00
IGL03328:Peli2 APN 14 48252575 critical splice acceptor site probably null
PIT4378001:Peli2 UTSW 14 48168269 nonsense probably null
R0046:Peli2 UTSW 14 48121202 missense possibly damaging 0.88
R1545:Peli2 UTSW 14 48252717 missense probably benign 0.32
R2027:Peli2 UTSW 14 48256145 missense probably benign 0.25
R2437:Peli2 UTSW 14 48227932 intron probably benign
R5481:Peli2 UTSW 14 48252633 missense probably damaging 1.00
R5750:Peli2 UTSW 14 48256175 missense possibly damaging 0.95
R5831:Peli2 UTSW 14 48168270 missense probably damaging 0.99
R6154:Peli2 UTSW 14 48250594 nonsense probably null
R6445:Peli2 UTSW 14 48256448 missense possibly damaging 0.48
R6712:Peli2 UTSW 14 48250594 missense probably benign 0.30
R7469:Peli2 UTSW 14 48250558 missense probably benign
R7685:Peli2 UTSW 14 48280034 missense not run
R8817:Peli2 UTSW 14 48252673 missense possibly damaging 0.46
R8819:Peli2 UTSW 14 48252673 missense possibly damaging 0.46
R8820:Peli2 UTSW 14 48252673 missense possibly damaging 0.46
R8821:Peli2 UTSW 14 48252673 missense possibly damaging 0.46
R8853:Peli2 UTSW 14 48256488 missense probably damaging 1.00
R9177:Peli2 UTSW 14 48281470 missense probably benign 0.01
R9268:Peli2 UTSW 14 48281470 missense probably benign 0.01
R9521:Peli2 UTSW 14 48252595 missense probably benign 0.06
R9553:Peli2 UTSW 14 48250693 missense probably damaging 1.00
R9595:Peli2 UTSW 14 48256389 missense probably damaging 1.00
Posted On 2015-12-18