Incidental Mutation 'IGL03139:Tprn'
ID410649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tprn
Ensembl Gene ENSMUSG00000048707
Gene Nametaperin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03139
Quality Score
Status
Chromosome2
Chromosomal Location25262618-25269885 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 25264054 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 456 (A456V)
Ref Sequence ENSEMBL: ENSMUSP00000109975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114336]
Predicted Effect probably benign
Transcript: ENSMUST00000114336
AA Change: A456V

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: A456V

DomainStartEndE-ValueType
Pfam:Phostensin_N 8 89 8.3e-38 PFAM
low complexity region 105 117 N/A INTRINSIC
internal_repeat_1 149 273 1.71e-5 PROSPERO
low complexity region 290 322 N/A INTRINSIC
low complexity region 401 410 N/A INTRINSIC
Pfam:Phostensin 506 645 1.8e-65 PFAM
low complexity region 647 665 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155738
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss and degeneration of hair cell stereocilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,208 F97L probably benign Het
Acad10 T C 5: 121,626,082 Y928C probably benign Het
Aqp7 A G 4: 41,045,326 M18T probably benign Het
Atxn7 T C 14: 14,052,994 V144A probably damaging Het
Baiap2l2 T A 15: 79,271,553 N107I probably damaging Het
Cd180 A G 13: 102,706,416 K657E probably damaging Het
Cep192 T C 18: 67,828,476 probably null Het
Cma2 A G 14: 55,973,799 I183V probably damaging Het
Col18a1 C A 10: 77,113,343 A112S possibly damaging Het
Ctu2 A G 8: 122,478,707 D100G possibly damaging Het
Defb29 T C 2: 152,538,892 K66E probably damaging Het
Dis3l T A 9: 64,311,950 D566V probably damaging Het
Dtx1 C A 5: 120,694,890 R161L probably damaging Het
Efcab6 T A 15: 83,952,221 L436F probably benign Het
Fip1l1 A G 5: 74,571,115 I254V possibly damaging Het
Gid8 C A 2: 180,714,708 A46E probably damaging Het
Gm4951 T C 18: 60,246,149 V252A probably benign Het
Grm8 G T 6: 27,618,650 Q398K probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kcnt1 T C 2: 25,894,468 probably benign Het
Lrrc8a T C 2: 30,255,671 S166P probably damaging Het
Map2k6 A T 11: 110,496,473 probably benign Het
Mmab A G 5: 114,433,344 L157P probably damaging Het
Mmrn1 A T 6: 60,976,340 E535V probably damaging Het
Mup4 T C 4: 59,958,482 probably benign Het
Nup210 A G 6: 91,020,239 S820P probably benign Het
Olfr547 A G 7: 102,535,310 K188E possibly damaging Het
Pik3cg T C 12: 32,192,223 I963V probably damaging Het
Plcg1 T C 2: 160,748,129 probably null Het
Plscr1 T C 9: 92,266,385 probably benign Het
Prss36 C T 7: 127,933,611 G202E probably damaging Het
Psen2 A T 1: 180,240,785 V101E probably damaging Het
Saxo1 T C 4: 86,487,762 M67V possibly damaging Het
Sfrp4 G A 13: 19,623,558 M42I probably damaging Het
Strn3 C A 12: 51,652,850 probably benign Het
Tgfb1i1 C A 7: 128,249,304 P197Q possibly damaging Het
Thsd4 A G 9: 59,997,173 V580A probably benign Het
Tjp1 C A 7: 65,340,434 probably benign Het
Ttc34 T C 4: 154,861,270 Y763H probably benign Het
Ttn T C 2: 76,771,163 T18686A probably benign Het
Uggt2 T A 14: 119,095,310 T71S probably benign Het
Vmn2r120 T A 17: 57,524,742 Y349F probably benign Het
Zbtb41 A G 1: 139,423,838 T230A probably benign Het
Other mutations in Tprn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03072:Tprn APN 2 25264518 missense probably damaging 1.00
R0568:Tprn UTSW 2 25264321 missense probably damaging 1.00
R0615:Tprn UTSW 2 25264198 missense probably damaging 0.97
R0706:Tprn UTSW 2 25264491 missense probably damaging 1.00
R1675:Tprn UTSW 2 25264409 missense probably benign 0.01
R2508:Tprn UTSW 2 25268928 missense possibly damaging 0.95
R4257:Tprn UTSW 2 25264482 missense probably damaging 1.00
R4493:Tprn UTSW 2 25268892 missense probably damaging 1.00
R4494:Tprn UTSW 2 25268892 missense probably damaging 1.00
R4898:Tprn UTSW 2 25268833 missense probably damaging 0.99
R5536:Tprn UTSW 2 25263357 missense probably benign 0.07
R5537:Tprn UTSW 2 25263357 missense probably benign 0.07
R6753:Tprn UTSW 2 25264038 missense probably benign
R7554:Tprn UTSW 2 25263799 missense probably damaging 1.00
X0003:Tprn UTSW 2 25268911 unclassified probably benign
X0010:Tprn UTSW 2 25268911 unclassified probably benign
Posted On2016-08-02