Incidental Mutation 'R4010:Tekt4'
ID311665
Institutional Source Beutler Lab
Gene Symbol Tekt4
Ensembl Gene ENSMUSG00000024175
Gene Nametektin 4
Synonyms
MMRRC Submission 040947-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #R4010 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location25471590-25476594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 25476486 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 431 (M431R)
Ref Sequence ENSEMBL: ENSMUSP00000025002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025002]
Predicted Effect probably damaging
Transcript: ENSMUST00000025002
AA Change: M431R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: M431R

DomainStartEndE-ValueType
Pfam:Tektin 56 438 6.2e-143 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T C 5: 87,972,277 S298P probably damaging Het
Abca13 G A 11: 9,622,013 probably benign Het
Abcc2 A G 19: 43,829,864 N1263S possibly damaging Het
Acss2 T A 2: 155,557,628 L529Q probably damaging Het
Adamts12 A G 15: 11,286,083 T793A possibly damaging Het
Adsl T C 15: 80,966,156 S359P probably benign Het
Ddx60 A T 8: 61,956,144 M405L probably benign Het
Ddx60 A T 8: 61,954,535 D360V possibly damaging Het
Frmd6 A G 12: 70,899,553 N585S probably benign Het
Fxr1 G T 3: 34,065,022 R580L probably benign Het
Ggt7 G A 2: 155,500,732 T358M probably benign Het
Gm2000 T C 1: 156,366,154 V26A probably benign Het
Gm5435 G A 12: 82,496,315 noncoding transcript Het
Gm5592 C T 7: 41,286,628 H185Y probably benign Het
Ifit2 G T 19: 34,574,045 M328I probably benign Het
Itgae T A 11: 73,111,339 C90S probably benign Het
Kif1a G A 1: 93,022,409 S1424F probably benign Het
Map2k2 T C 10: 81,108,935 S94P probably damaging Het
Marveld2 C A 13: 100,611,428 probably null Het
Olfr512 A T 7: 108,714,159 I269L probably benign Het
Pdcl T C 2: 37,352,111 Y209C probably damaging Het
Pde6c A G 19: 38,169,436 E636G probably damaging Het
Pggt1b A G 18: 46,248,936 Y260H possibly damaging Het
Pkhd1l1 T A 15: 44,529,100 S1610R possibly damaging Het
Rel C T 11: 23,761,138 V10I probably benign Het
Rpa2 T A 4: 132,770,649 probably null Het
Rpain T G 11: 70,973,007 probably benign Het
Ryr1 T C 7: 29,095,124 T1237A probably benign Het
Safb T C 17: 56,603,765 probably benign Het
Serpina3a A T 12: 104,118,643 D99V probably benign Het
Setd2 A G 9: 110,599,195 Q2320R probably null Het
Sh2d4a C T 8: 68,335,147 R302C probably damaging Het
Slc19a2 T G 1: 164,260,882 S300A probably damaging Het
Slc30a5 G A 13: 100,809,233 A537V probably damaging Het
Strip2 A G 6: 29,955,585 I717V possibly damaging Het
Supt16 A C 14: 52,164,441 F924C probably damaging Het
Trim23 A G 13: 104,181,018 probably benign Het
Tspear T C 10: 77,836,476 probably benign Het
Usp39 C A 6: 72,336,485 A241S probably benign Het
Vmn1r185 T A 7: 26,612,025 L18F possibly damaging Het
Zfp213 T C 17: 23,558,090 H326R possibly damaging Het
Zfp354c T A 11: 50,814,944 I435F probably damaging Het
Zfp618 G A 4: 63,133,564 A861T probably benign Het
Other mutations in Tekt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Tekt4 APN 17 25476384 missense probably benign 0.31
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
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
Predicted Primers PCR Primer
(F):5'- TTCCTTGCAGGTTGCTGAGC -3'
(R):5'- ACCATTTCCCCTGAAGTGTG -3'

Sequencing Primer
(F):5'- CAGGTTGCTGAGCGAGGTG -3'
(R):5'- TAGGCTCTTGGACAAAGCCTG -3'
Posted On2015-04-29