Incidental Mutation 'R1308:Tekt2'
ID 157849
Institutional Source Beutler Lab
Gene Symbol Tekt2
Ensembl Gene ENSMUSG00000028845
Gene Name tektin 2
Synonyms tektin-t
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126215914-126219481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126218711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 14 (L14H)
Ref Sequence ENSEMBL: ENSMUSP00000114688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000102616] [ENSMUST00000102617] [ENSMUST00000131113] [ENSMUST00000141990]
AlphaFold Q922G7
Predicted Effect probably damaging
Transcript: ENSMUST00000030658
AA Change: L14H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: L14H

DomainStartEndE-ValueType
Pfam:Tektin 17 399 2.1e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102616
AA Change: L14H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: L14H

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 damaging
Transcript: ENSMUST00000131113
AA Change: L14H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845
AA Change: L14H

DomainStartEndE-ValueType
Pfam:Tektin 17 126 9.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133068
Predicted Effect probably damaging
Transcript: ENSMUST00000141990
AA Change: L14H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151191
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGACAGTGTCGATCCTCTCAGCC -3'
(R):5'- GTTGGAAACCTTCCCAGCAGACTC -3'

Sequencing Primer
(F):5'- GTTCATCCCATACAATCTGGAAGAG -3'
(R):5'- CTGCGGGAAAGGGCTTAG -3'
Posted On 2014-02-18