Incidental Mutation 'IGL02011:Pih1d1'
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ID183376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pih1d1
Ensembl Gene ENSMUSG00000003423
Gene NamePIH1 domain containing 1
Synonyms1110061L23Rik, 4933413A04Rik, Nop17
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.459) question?
Stock #IGL02011
Quality Score
Status
Chromosome7
Chromosomal Location45154303-45160065 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45156732 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 31 (A31S)
Ref Sequence ENSEMBL: ENSMUSP00000148186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085375] [ENSMUST00000107811] [ENSMUST00000107815] [ENSMUST00000209847] [ENSMUST00000209954] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000210139] [ENSMUST00000211362] [ENSMUST00000211414] [ENSMUST00000211709]
Predicted Effect probably damaging
Transcript: ENSMUST00000085375
AA Change: A31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: A31S

DomainStartEndE-ValueType
Pfam:PIH1 23 207 1.8e-50 PFAM
Pfam:PIH1 211 285 2.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107811
AA Change: A31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: A31S

DomainStartEndE-ValueType
Pfam:PIH1 23 207 1.8e-50 PFAM
Pfam:PIH1 211 285 2.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107813
AA Change: A31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103443
Gene: ENSMUSG00000003423
AA Change: A31S

DomainStartEndE-ValueType
Pfam:PIH1 22 209 7.6e-39 PFAM
Pfam:PIH1 205 285 1.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107815
SMART Domains Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833

DomainStartEndE-ValueType
Pfam:Aldedh 48 488 3.8e-87 PFAM
Pfam:Aldedh 536 753 2.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209581
Predicted Effect probably damaging
Transcript: ENSMUST00000209847
AA Change: A31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209889
Predicted Effect probably damaging
Transcript: ENSMUST00000209954
AA Change: A31S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000209957
Predicted Effect probably benign
Transcript: ENSMUST00000209963
Predicted Effect probably benign
Transcript: ENSMUST00000210125
Predicted Effect probably damaging
Transcript: ENSMUST00000210139
AA Change: A31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211336
Predicted Effect probably benign
Transcript: ENSMUST00000211362
Predicted Effect probably damaging
Transcript: ENSMUST00000211414
AA Change: A31S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211709
AA Change: A98S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Pih1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Pih1d1 APN 7 45159964 missense probably damaging 1.00
IGL01327:Pih1d1 APN 7 45159975 missense probably benign 0.00
IGL03145:Pih1d1 APN 7 45159121 critical splice donor site probably null
R0659:Pih1d1 UTSW 7 45159975 missense probably benign 0.06
R0686:Pih1d1 UTSW 7 45156329 nonsense probably null
R0845:Pih1d1 UTSW 7 45159682 missense probably benign 0.37
R0848:Pih1d1 UTSW 7 45157617 missense probably damaging 1.00
R1679:Pih1d1 UTSW 7 45159826 critical splice donor site probably null
R1894:Pih1d1 UTSW 7 45157741 missense probably damaging 1.00
R4467:Pih1d1 UTSW 7 45158497 missense possibly damaging 0.78
R4899:Pih1d1 UTSW 7 45154527 intron probably benign
R5033:Pih1d1 UTSW 7 45154854 unclassified probably benign
R5435:Pih1d1 UTSW 7 45156272 splice site probably null
R6037:Pih1d1 UTSW 7 45156314 missense probably damaging 0.98
R6037:Pih1d1 UTSW 7 45156314 missense probably damaging 0.98
R6145:Pih1d1 UTSW 7 45159044 missense probably damaging 0.99
R6564:Pih1d1 UTSW 7 45159819 missense probably damaging 1.00
R7557:Pih1d1 UTSW 7 45156759 missense probably benign 0.00
Posted On2014-05-07