Incidental Mutation 'IGL02545:Pih1d3'
ID297788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pih1d3
Ensembl Gene ENSMUSG00000026063
Gene NamePIH1 domain containing 3
Synonyms4930521A18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02545
Quality Score
Status
Chromosome1
Chromosomal Location31222838-31224288 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31223096 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000127665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
Predicted Effect probably damaging
Transcript: ENSMUST00000027230
AA Change: D53G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: D53G

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Pfam:PIH1 70 209 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127775
SMART Domains Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135245
SMART Domains Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187659
SMART Domains Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187892
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele develop normally but display male infertility associated with asthenozoospermia and abnormal sperm flagellum morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in Pih1d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Pih1d3 APN 1 31222972 missense probably benign 0.00
IGL01469:Pih1d3 APN 1 31223429 missense probably damaging 0.99
IGL01629:Pih1d3 APN 1 31222933 utr 5 prime probably null
R1263:Pih1d3 UTSW 1 31223215 missense probably damaging 1.00
R1477:Pih1d3 UTSW 1 31223023 missense probably benign 0.08
R2073:Pih1d3 UTSW 1 31222996 missense probably benign 0.01
R4459:Pih1d3 UTSW 1 31223324 missense probably damaging 1.00
R5289:Pih1d3 UTSW 1 31223527 missense probably benign 0.02
R5303:Pih1d3 UTSW 1 31223456 missense probably damaging 1.00
R6216:Pih1d3 UTSW 1 31223351 missense probably damaging 1.00
R6994:Pih1d3 UTSW 1 31222909 unclassified probably benign
R7372:Pih1d3 UTSW 1 31223351 missense probably damaging 1.00
Posted On2015-04-16