Incidental Mutation 'IGL01819:Pih1d2'
ID 154474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pih1d2
Ensembl Gene ENSMUSG00000000167
Gene Name PIH1 domain containing 2
Synonyms 2700059L22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01819
Quality Score
Status
Chromosome 9
Chromosomal Location 50528621-50536300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50533177 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000151197] [ENSMUST00000147671] [ENSMUST00000145139] [ENSMUST00000171462] [ENSMUST00000155435]
AlphaFold Q8CHR9
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 noncoding transcript
Transcript: ENSMUST00000155773
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: ENSMUST00000147671
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145139
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
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Pih1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Pih1d2 UTSW 9 50,532,927 (GRCm39) frame shift probably null
R0390:Pih1d2 UTSW 9 50,532,346 (GRCm39) missense probably damaging 1.00
R0443:Pih1d2 UTSW 9 50,532,403 (GRCm39) missense possibly damaging 0.46
R1570:Pih1d2 UTSW 9 50,532,479 (GRCm39) missense probably benign 0.06
R1874:Pih1d2 UTSW 9 50,532,245 (GRCm39) missense possibly damaging 0.68
R2207:Pih1d2 UTSW 9 50,532,379 (GRCm39) missense probably benign 0.17
R4667:Pih1d2 UTSW 9 50,532,252 (GRCm39) nonsense probably null
R5806:Pih1d2 UTSW 9 50,529,750 (GRCm39) unclassified probably benign
R5811:Pih1d2 UTSW 9 50,532,374 (GRCm39) missense probably damaging 1.00
R5949:Pih1d2 UTSW 9 50,536,284 (GRCm39) missense probably damaging 1.00
R6156:Pih1d2 UTSW 9 50,532,452 (GRCm39) missense possibly damaging 0.88
R6416:Pih1d2 UTSW 9 50,529,909 (GRCm39) missense probably benign 0.00
R6711:Pih1d2 UTSW 9 50,529,310 (GRCm39) start codon destroyed probably null
R7052:Pih1d2 UTSW 9 50,533,077 (GRCm39) missense probably damaging 1.00
R7557:Pih1d2 UTSW 9 50,536,216 (GRCm39) missense probably damaging 0.99
R7661:Pih1d2 UTSW 9 50,529,558 (GRCm39) critical splice donor site probably null
R7770:Pih1d2 UTSW 9 50,533,101 (GRCm39) missense not run
R8295:Pih1d2 UTSW 9 50,532,379 (GRCm39) missense probably damaging 1.00
R8978:Pih1d2 UTSW 9 50,536,232 (GRCm39) missense probably benign 0.43
R9147:Pih1d2 UTSW 9 50,532,321 (GRCm39) missense possibly damaging 0.91
R9401:Pih1d2 UTSW 9 50,529,905 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04