Incidental Mutation 'R1563:Tekt2'
ID 170738
Institutional Source Beutler Lab
Gene Symbol Tekt2
Ensembl Gene ENSMUSG00000028845
Gene Name tektin 2
Synonyms tektin-t
MMRRC Submission 039602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1563 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126215914-126219481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126217200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 233 (M233L)
Ref Sequence ENSEMBL: ENSMUSP00000099676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000102616] [ENSMUST00000102617] [ENSMUST00000131113] [ENSMUST00000141990]
AlphaFold Q922G7
Predicted Effect probably benign
Transcript: ENSMUST00000030658
AA Change: M233L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: M233L

DomainStartEndE-ValueType
Pfam:Tektin 17 399 2.1e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102616
AA Change: M233L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: M233L

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 probably benign
Transcript: ENSMUST00000131113
SMART Domains Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845

DomainStartEndE-ValueType
Pfam:Tektin 17 126 9.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151191
Predicted Effect probably benign
Transcript: ENSMUST00000141990
Meta Mutation Damage Score 0.1286 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fbln2 G T 6: 91,240,365 (GRCm39) E724* probably null Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Otof T C 5: 30,528,349 (GRCm39) T1870A probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Ppp1r13b T C 12: 111,807,416 (GRCm39) E157G probably damaging Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Slc8a3 T A 12: 81,251,781 (GRCm39) D640V possibly damaging Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* probably null 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
IGL03087:Tekt2 APN 4 126,218,660 (GRCm39) missense possibly damaging 0.63
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
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
Predicted Primers PCR Primer
(F):5'- ACCCTCTGAGCGTCCAGTTCATTG -3'
(R):5'- TCGGCAGCAACTCAACTCTGAC -3'

Sequencing Primer
(F):5'- CCAGTTCATTGTTGGTCTGC -3'
(R):5'- AAGACCAGTGTTTCAGTCAGTCC -3'
Posted On 2014-04-13