Incidental Mutation 'R3831:Tekt1'
ID 274019
Institutional Source Beutler Lab
Gene Symbol Tekt1
Ensembl Gene ENSMUSG00000020799
Gene Name tektin 1
Synonyms MT14
MMRRC Submission 040777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R3831 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 72235548-72253268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72245645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 170 (N170S)
Ref Sequence ENSEMBL: ENSMUSP00000104143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021155] [ENSMUST00000108502] [ENSMUST00000108503]
AlphaFold Q9DAJ2
Predicted Effect probably benign
Transcript: ENSMUST00000021155
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021155
Gene: ENSMUSG00000020799
AA Change: N170S

DomainStartEndE-ValueType
Pfam:Tektin 16 398 1.3e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108502
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104142
Gene: ENSMUSG00000020799
AA Change: N170S

DomainStartEndE-ValueType
Pfam:Tektin 16 399 5.5e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108503
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104143
Gene: ENSMUSG00000020799
AA Change: N170S

DomainStartEndE-ValueType
Pfam:Tektin 16 399 5.5e-152 PFAM
Meta Mutation Damage Score 0.0699 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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 predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,880,992 (GRCm39) T527A unknown Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1c A G 6: 118,581,424 (GRCm39) S1727P probably benign Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cemip2 T G 19: 21,825,315 (GRCm39) S1204R probably damaging Het
Cibar2 T A 8: 120,901,633 (GRCm39) Y24F probably damaging Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Frmd4b T A 6: 97,389,486 (GRCm39) K73* probably null Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hkdc1 T C 10: 62,235,991 (GRCm39) Y517C probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Inpp5j T C 11: 3,450,229 (GRCm39) D228G probably damaging Het
Itih5 A G 2: 10,256,081 (GRCm39) D849G possibly damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Kremen1 G GGGC 11: 5,151,794 (GRCm39) probably benign Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Melk C A 4: 44,345,021 (GRCm39) Q384K probably benign Het
Morc2b C T 17: 33,356,233 (GRCm39) S513N probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Or2t45 T A 11: 58,669,571 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,589 (GRCm39) F100S probably damaging Het
Or9e1 T G 11: 58,732,686 (GRCm39) F249V probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Rgs5 A G 1: 169,504,470 (GRCm39) Y40C probably benign Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Selp T A 1: 163,959,849 (GRCm39) C368* probably null Het
Sema3e T A 5: 14,276,496 (GRCm39) C294S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Smarca5 A T 8: 81,455,123 (GRCm39) N199K probably damaging Het
Sorbs2 A T 8: 46,248,132 (GRCm39) D442V probably damaging Het
Specc1 T A 11: 62,008,793 (GRCm39) I183N probably damaging Het
Tcerg1 G T 18: 42,701,554 (GRCm39) R872L probably damaging Het
Thsd1 T G 8: 22,733,132 (GRCm39) S60A possibly damaging Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Usp28 A G 9: 48,946,938 (GRCm39) T505A probably benign Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zranb1 C T 7: 132,584,505 (GRCm39) A591V probably damaging Het
Other mutations in Tekt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4544001:Tekt1 UTSW 11 72,245,660 (GRCm39) missense probably damaging 1.00
R0463:Tekt1 UTSW 11 72,242,778 (GRCm39) missense probably damaging 1.00
R0531:Tekt1 UTSW 11 72,236,420 (GRCm39) missense possibly damaging 0.67
R1190:Tekt1 UTSW 11 72,246,039 (GRCm39) missense probably damaging 1.00
R1908:Tekt1 UTSW 11 72,242,761 (GRCm39) missense probably benign 0.41
R3783:Tekt1 UTSW 11 72,235,720 (GRCm39) missense probably damaging 1.00
R3784:Tekt1 UTSW 11 72,235,720 (GRCm39) missense probably damaging 1.00
R3785:Tekt1 UTSW 11 72,235,720 (GRCm39) missense probably damaging 1.00
R3787:Tekt1 UTSW 11 72,235,720 (GRCm39) missense probably damaging 1.00
R3832:Tekt1 UTSW 11 72,245,645 (GRCm39) missense probably benign 0.03
R3833:Tekt1 UTSW 11 72,245,645 (GRCm39) missense probably benign 0.03
R3916:Tekt1 UTSW 11 72,236,574 (GRCm39) missense possibly damaging 0.83
R3917:Tekt1 UTSW 11 72,236,574 (GRCm39) missense possibly damaging 0.83
R5645:Tekt1 UTSW 11 72,242,663 (GRCm39) missense probably benign 0.02
R7740:Tekt1 UTSW 11 72,250,544 (GRCm39) missense probably benign 0.03
R8472:Tekt1 UTSW 11 72,242,850 (GRCm39) missense possibly damaging 0.61
Z1176:Tekt1 UTSW 11 72,236,524 (GRCm39) missense probably damaging 0.99
Z1186:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1187:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1188:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1189:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1190:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1191:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Z1192:Tekt1 UTSW 11 72,250,597 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTAGAGGGGCTCTAGGATGC -3'
(R):5'- TGGCAGAGGATTTCAATTGAGGC -3'

Sequencing Primer
(F):5'- AGGATGCTTCCCTTGGCC -3'
(R):5'- TTGGTCTCCAAGCATCATCTGG -3'
Posted On 2015-04-02