Incidental Mutation 'IGL01571:Tekt4'
ID93300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tekt4
Ensembl Gene ENSMUSG00000024175
Gene Nametektin 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01571
Quality Score
Status
Chromosome17
Chromosomal Location25471590-25476594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25476384 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 397 (D397G)
Ref Sequence ENSEMBL: ENSMUSP00000025002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025002]
Predicted Effect probably benign
Transcript: ENSMUST00000025002
AA Change: D397G

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: D397G

DomainStartEndE-ValueType
Pfam:Tektin 56 438 6.2e-143 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased male fertility due to abnormal flagellum function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Tekt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Tekt4 APN 17 25473758 missense possibly damaging 0.93
R0788:Tekt4 UTSW 17 25472047 missense probably damaging 1.00
R1280:Tekt4 UTSW 17 25471887 missense probably damaging 1.00
R1466:Tekt4 UTSW 17 25472074 missense probably benign 0.29
R1466:Tekt4 UTSW 17 25472074 missense probably benign 0.29
R1819:Tekt4 UTSW 17 25473811 splice site probably null
R1902:Tekt4 UTSW 17 25471858 missense possibly damaging 0.63
R2262:Tekt4 UTSW 17 25476511 missense possibly damaging 0.76
R2263:Tekt4 UTSW 17 25476511 missense possibly damaging 0.76
R4010:Tekt4 UTSW 17 25476486 missense probably damaging 1.00
R4604:Tekt4 UTSW 17 25471775 missense probably benign
R5085:Tekt4 UTSW 17 25473775 missense probably damaging 0.99
R6187:Tekt4 UTSW 17 25472223 missense probably damaging 1.00
R7102:Tekt4 UTSW 17 25474744 missense probably damaging 0.99
Posted On2013-12-09