Incidental Mutation 'IGL03087:Tekt2'
ID 418172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tekt2
Ensembl Gene ENSMUSG00000028845
Gene Name tektin 2
Synonyms tektin-t
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL03087
Quality Score
Status
Chromosome 4
Chromosomal Location 126215914-126219481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126218660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 31 (Q31L)
Ref Sequence ENSEMBL: ENSMUSP00000116659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000102616] [ENSMUST00000102617] [ENSMUST00000131113] [ENSMUST00000141990]
AlphaFold Q922G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030658
AA Change: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: Q31L

DomainStartEndE-ValueType
Pfam:Tektin 17 399 2.1e-133 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102616
AA Change: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: Q31L

DomainStartEndE-ValueType
Pfam:Tektin 17 398 1.9e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102617
SMART Domains Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:ADP_ribosyl_GH 31 344 1.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128188
Predicted Effect possibly damaging
Transcript: ENSMUST00000131113
AA Change: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845
AA Change: Q31L

DomainStartEndE-ValueType
Pfam:Tektin 17 126 9.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140080
Predicted Effect probably benign
Transcript: ENSMUST00000141990
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit male infertility and impaired motility of both sperm flagella and tracheal cilia due to altered dynein inner arm morphology and function. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Uroc1 G T 6: 90,340,085 (GRCm39) probably benign Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly damaging Het
Other mutations in Tekt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Tekt2 APN 4 126,216,982 (GRCm39) missense possibly damaging 0.47
IGL01900:Tekt2 APN 4 126,218,421 (GRCm39) missense probably benign 0.00
IGL02452:Tekt2 APN 4 126,218,645 (GRCm39) missense possibly damaging 0.83
IGL02563:Tekt2 APN 4 126,218,418 (GRCm39) missense possibly damaging 0.82
1mM(1):Tekt2 UTSW 4 126,218,403 (GRCm39) missense probably damaging 0.98
R0747:Tekt2 UTSW 4 126,217,553 (GRCm39) nonsense probably null
R1113:Tekt2 UTSW 4 126,218,711 (GRCm39) missense probably damaging 0.99
R1308:Tekt2 UTSW 4 126,218,711 (GRCm39) missense probably damaging 0.99
R1524:Tekt2 UTSW 4 126,217,442 (GRCm39) missense probably benign
R1563:Tekt2 UTSW 4 126,217,200 (GRCm39) missense probably benign 0.16
R1819:Tekt2 UTSW 4 126,217,529 (GRCm39) missense probably damaging 1.00
R1930:Tekt2 UTSW 4 126,216,610 (GRCm39) splice site probably null
R1931:Tekt2 UTSW 4 126,216,610 (GRCm39) splice site probably null
R2295:Tekt2 UTSW 4 126,217,486 (GRCm39) splice site probably null
R4888:Tekt2 UTSW 4 126,218,460 (GRCm39) missense probably benign 0.02
R4902:Tekt2 UTSW 4 126,217,263 (GRCm39) missense possibly damaging 0.95
R5202:Tekt2 UTSW 4 126,218,463 (GRCm39) missense probably benign 0.41
R5219:Tekt2 UTSW 4 126,216,057 (GRCm39) missense possibly damaging 0.51
R5839:Tekt2 UTSW 4 126,216,629 (GRCm39) missense probably damaging 1.00
R6213:Tekt2 UTSW 4 126,216,989 (GRCm39) missense probably damaging 0.99
R6498:Tekt2 UTSW 4 126,218,098 (GRCm39) missense probably benign 0.01
R6963:Tekt2 UTSW 4 126,218,110 (GRCm39) missense probably damaging 0.98
R6988:Tekt2 UTSW 4 126,217,236 (GRCm39) missense probably benign 0.02
R7148:Tekt2 UTSW 4 126,216,174 (GRCm39) missense probably benign 0.38
R8977:Tekt2 UTSW 4 126,217,266 (GRCm39) critical splice acceptor site probably null
R9340:Tekt2 UTSW 4 126,216,952 (GRCm39) missense probably benign
R9563:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9606:Tekt2 UTSW 4 126,218,693 (GRCm39) missense probably benign 0.07
R9619:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9621:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9664:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9665:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9666:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9667:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9668:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9745:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9748:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
R9749:Tekt2 UTSW 4 126,217,444 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02