Incidental Mutation 'IGL01469:Pih1d3'
ID 88191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pih1d3
Ensembl Gene ENSMUSG00000026063
Gene Name PIH1 domain containing 3
Synonyms 4930521A18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01469
Quality Score
Chromosome 1
Chromosomal Location 31222838-31224288 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31223429 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 164 (D164V)
Ref Sequence ENSEMBL: ENSMUSP00000127665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
AlphaFold Q3KNI6
Predicted Effect probably damaging
Transcript: ENSMUST00000027230
AA Change: D164V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: D164V

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

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

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

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,528,622 Q204R possibly damaging Het
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Fmo5 A G 3: 97,651,568 N448S probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Nrbf2 A G 10: 67,270,140 L41P probably damaging Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr514 A G 7: 108,825,327 V224A probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Scaper T C 9: 55,859,767 D466G probably damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in Pih1d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Pih1d3 APN 1 31222972 missense probably benign 0.00
IGL01629:Pih1d3 APN 1 31222933 splice site probably null
IGL02545:Pih1d3 APN 1 31223096 missense probably damaging 0.99
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
R8127:Pih1d3 UTSW 1 31223120 missense probably benign
R8415:Pih1d3 UTSW 1 31223483 missense probably benign 0.30
R8439:Pih1d3 UTSW 1 31223268 missense probably damaging 1.00
Posted On 2013-11-18