Incidental Mutation 'IGL01819:Pih1d2'
ID154474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pih1d2
Ensembl Gene ENSMUSG00000000167
Gene NamePIH1 domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01819
Quality Score
Status
Chromosome9
Chromosomal Location50617321-50625000 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50621877 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 268 (S268R)
Ref Sequence ENSEMBL: ENSMUSP00000000171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000151197] [ENSMUST00000155435] [ENSMUST00000171462]
Predicted Effect probably benign
Transcript: ENSMUST00000000171
AA Change: S268R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: S268R

DomainStartEndE-ValueType
Pfam:PIH1 19 314 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124029
Predicted Effect probably benign
Transcript: ENSMUST00000125606
SMART Domains Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 140 2.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131351
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132187
SMART Domains Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 92 1.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141366
SMART Domains Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 35 198 2.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145139
Predicted Effect probably benign
Transcript: ENSMUST00000147671
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151197
SMART Domains Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 235 1.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155435
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155773
Predicted Effect probably benign
Transcript: ENSMUST00000171462
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Pih1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Pih1d2 UTSW 9 50621627 frame shift probably null
R0390:Pih1d2 UTSW 9 50621046 missense probably damaging 1.00
R0443:Pih1d2 UTSW 9 50621103 missense possibly damaging 0.46
R1570:Pih1d2 UTSW 9 50621179 missense probably benign 0.06
R1874:Pih1d2 UTSW 9 50620945 missense possibly damaging 0.68
R2207:Pih1d2 UTSW 9 50621079 missense probably benign 0.17
R4667:Pih1d2 UTSW 9 50620952 nonsense probably null
R5806:Pih1d2 UTSW 9 50618450 unclassified probably benign
R5811:Pih1d2 UTSW 9 50621074 missense probably damaging 1.00
R5949:Pih1d2 UTSW 9 50624984 missense probably damaging 1.00
R6156:Pih1d2 UTSW 9 50621152 missense possibly damaging 0.88
R6416:Pih1d2 UTSW 9 50618609 missense probably benign 0.00
R6711:Pih1d2 UTSW 9 50618010 start codon destroyed probably null
R7052:Pih1d2 UTSW 9 50621777 missense probably damaging 1.00
R7557:Pih1d2 UTSW 9 50624916 missense probably damaging 0.99
R7661:Pih1d2 UTSW 9 50618258 critical splice donor site probably null
R7770:Pih1d2 UTSW 9 50621801 missense not run
R8295:Pih1d2 UTSW 9 50621079 missense probably damaging 1.00
Posted On2014-02-04