Incidental Mutation 'IGL02208:P3h4'
ID 284578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P3h4
Ensembl Gene ENSMUSG00000006931
Gene Name prolyl 3-hydroxylase family member 4 (non-enzymatic)
Synonyms 1110036O03Rik, Leprel4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02208
Quality Score
Status
Chromosome 11
Chromosomal Location 100299293-100305542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100304901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 162 (N162S)
Ref Sequence ENSEMBL: ENSMUSP00000065278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000066489] [ENSMUST00000107400]
AlphaFold Q8K2B0
Predicted Effect probably benign
Transcript: ENSMUST00000001595
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 5.4e-30 PFAM
Pfam:FKBP_C 166 258 4e-29 PFAM
Pfam:FKBP_C 278 370 2.3e-28 PFAM
Pfam:FKBP_C 391 482 6.2e-26 PFAM
EFh 503 528 2.16e0 SMART
EFh 545 573 2.04e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066489
AA Change: N162S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931
AA Change: N162S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 56 70 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
internal_repeat_1 151 215 5.16e-8 PROSPERO
internal_repeat_1 302 364 5.16e-8 PROSPERO
low complexity region 385 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107400
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 1.4e-29 PFAM
Pfam:FKBP_C 166 258 2e-29 PFAM
Pfam:FKBP_C 279 370 4.9e-26 PFAM
EFh 391 416 2.16e0 SMART
EFh 433 461 2.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134815
SMART Domains Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
Pfam:FKBP_C 34 65 1.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141840
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased trabecular volume, compact bone thickness, skin tensile strength and muscle below the hypodermis with decreased cutaneous collagen fiber density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,950,772 (GRCm39) Y898H probably damaging Het
Abr T C 11: 76,346,471 (GRCm39) T484A probably damaging Het
Ahsg G A 16: 22,711,060 (GRCm39) V66I possibly damaging Het
Arhgef5 T G 6: 43,252,064 (GRCm39) D938E probably benign Het
Asap1 T A 15: 63,993,882 (GRCm39) E731V probably damaging Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Dock5 A G 14: 68,065,899 (GRCm39) I368T probably benign Het
Dse T A 10: 34,028,433 (GRCm39) M886L probably benign Het
Efcab11 A G 12: 99,820,861 (GRCm39) probably benign Het
Eri2 G A 7: 119,385,158 (GRCm39) P448S probably benign Het
Iffo1 A G 6: 125,122,329 (GRCm39) D37G possibly damaging Het
Lrrc39 A T 3: 116,371,923 (GRCm39) Q230L probably damaging Het
Macrod2 C A 2: 142,216,196 (GRCm39) S443Y possibly damaging Het
Map4 T A 9: 109,807,938 (GRCm39) M1K probably null Het
Misfa T C 7: 46,633,572 (GRCm39) probably benign Het
Myh4 G A 11: 67,142,760 (GRCm39) A974T possibly damaging Het
Npm3 T C 19: 45,737,299 (GRCm39) T72A probably benign Het
Or14j1 T C 17: 38,146,415 (GRCm39) F175S probably damaging Het
Pcnx2 G T 8: 126,478,894 (GRCm39) T2118N probably benign Het
Pla2r1 G T 2: 60,258,932 (GRCm39) P1152Q possibly damaging Het
Pole2 C T 12: 69,269,936 (GRCm39) E63K possibly damaging Het
Polr3e T A 7: 120,531,363 (GRCm39) F151I probably damaging Het
Prdm2 T C 4: 142,862,313 (GRCm39) T326A probably benign Het
Prdm8 G T 5: 98,331,324 (GRCm39) A59S possibly damaging Het
Reps1 A G 10: 17,994,770 (GRCm39) N538S probably damaging Het
Scube1 T C 15: 83,587,741 (GRCm39) D76G probably damaging Het
Senp6 T C 9: 80,021,225 (GRCm39) F302L probably damaging Het
Skic2 A T 17: 35,060,651 (GRCm39) I822N probably damaging Het
Slc17a7 T C 7: 44,820,367 (GRCm39) I299T probably damaging Het
Slc25a26 T A 6: 94,484,520 (GRCm39) V20E probably damaging Het
Spem2 T C 11: 69,708,089 (GRCm39) probably null Het
Stat5b A C 11: 100,695,739 (GRCm39) F81C probably damaging Het
Taf6 A T 5: 138,179,169 (GRCm39) V423E probably damaging Het
Tcaf2 T A 6: 42,606,020 (GRCm39) Y551F probably damaging Het
Tgm6 A T 2: 129,977,790 (GRCm39) D43V probably benign Het
Tubb3 G T 8: 124,147,603 (GRCm39) V179L probably damaging Het
Ubr1 G A 2: 120,776,830 (GRCm39) H304Y probably benign Het
Vmn2r56 T G 7: 12,449,408 (GRCm39) M277L probably benign Het
Wdr72 G A 9: 74,064,581 (GRCm39) V538M probably damaging Het
Other mutations in P3h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
slight UTSW 11 100,302,671 (GRCm39) missense probably damaging 0.99
R2204:P3h4 UTSW 11 100,304,832 (GRCm39) missense probably benign 0.02
R2441:P3h4 UTSW 11 100,304,594 (GRCm39) missense probably damaging 1.00
R4356:P3h4 UTSW 11 100,304,452 (GRCm39) missense probably damaging 1.00
R4358:P3h4 UTSW 11 100,304,452 (GRCm39) missense probably damaging 1.00
R5762:P3h4 UTSW 11 100,302,677 (GRCm39) missense probably damaging 1.00
R5877:P3h4 UTSW 11 100,304,843 (GRCm39) missense probably benign 0.05
R6167:P3h4 UTSW 11 100,302,671 (GRCm39) missense probably damaging 0.99
R6371:P3h4 UTSW 11 100,302,575 (GRCm39) missense probably benign 0.44
R7830:P3h4 UTSW 11 100,304,869 (GRCm39) missense probably damaging 1.00
R9652:P3h4 UTSW 11 100,304,499 (GRCm39) nonsense probably null
Posted On 2015-04-16