Incidental Mutation 'IGL02473:Tektl1'
ID 294820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tektl1
Ensembl Gene ENSMUSG00000078442
Gene Name tektin like 1
Synonyms Ccdc105, 4931413A09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02473
Quality Score
Status
Chromosome 10
Chromosomal Location 78582760-78588899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78586428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 208 (S208T)
Ref Sequence ENSEMBL: ENSMUSP00000101022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105383]
AlphaFold Q9D4K7
Predicted Effect probably benign
Transcript: ENSMUST00000105383
AA Change: S208T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: S208T

DomainStartEndE-ValueType
Pfam:Tektin 115 470 1.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210562
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,545,440 (GRCm39) probably benign Het
9030624G23Rik A G 12: 24,094,853 (GRCm39) F106S probably benign Het
A930011G23Rik T C 5: 99,370,854 (GRCm39) Y468C probably damaging Het
Abcd3 T C 3: 121,562,893 (GRCm39) T515A possibly damaging Het
Acrbp A G 6: 125,031,661 (GRCm39) T321A probably benign Het
Aldh2 T C 5: 121,710,141 (GRCm39) Y398C probably damaging Het
Baz2b T A 2: 59,790,407 (GRCm39) D602V probably benign Het
Ccdc191 T C 16: 43,777,257 (GRCm39) V714A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn2 A G 1: 132,446,069 (GRCm39) L839P probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a16 T C 5: 145,377,304 (GRCm39) I428V possibly damaging Het
Dnah7b A T 1: 46,273,353 (GRCm39) T2494S probably damaging Het
Dnaja3 T A 16: 4,519,104 (GRCm39) Y348* probably null Het
Dnajb3 C A 1: 88,133,104 (GRCm39) E99D probably benign Het
Igf2bp3 A G 6: 49,071,163 (GRCm39) F411L probably benign Het
L3mbtl4 A T 17: 68,866,772 (GRCm39) Y337F possibly damaging Het
Lias A G 5: 65,562,745 (GRCm39) T258A possibly damaging Het
Lipk T A 19: 34,016,548 (GRCm39) C254S probably damaging Het
Map4k1 T C 7: 28,699,297 (GRCm39) L596S probably damaging Het
Mdga2 T C 12: 66,597,385 (GRCm39) E703G possibly damaging Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Or2f1b A G 6: 42,739,640 (GRCm39) Y218C probably damaging Het
Or4b1b T C 2: 90,112,040 (GRCm39) K293R probably null Het
Pcgf2 A G 11: 97,582,747 (GRCm39) probably benign Het
Prdm15 T C 16: 97,638,805 (GRCm39) probably null Het
Rnf111 A G 9: 70,348,140 (GRCm39) V810A probably damaging Het
Rpl23a-ps1 A T 1: 46,020,951 (GRCm39) noncoding transcript Het
Smc3 C A 19: 53,624,879 (GRCm39) A779E probably benign Het
Smtn C T 11: 3,482,463 (GRCm39) G140D probably damaging Het
Son T C 16: 91,455,683 (GRCm39) S1477P probably damaging Het
Strn T C 17: 78,991,722 (GRCm39) D20G possibly damaging Het
Tnxb T C 17: 34,936,736 (GRCm39) L2798P probably damaging Het
Ttn A C 2: 76,775,896 (GRCm39) N1715K probably damaging Het
Vps33a A T 5: 123,707,634 (GRCm39) I111N probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan4d A T 7: 10,896,336 (GRCm39) C345S probably benign Het
Other mutations in Tektl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Tektl1 APN 10 78,586,403 (GRCm39) missense probably damaging 1.00
IGL01632:Tektl1 APN 10 78,584,536 (GRCm39) missense probably benign 0.01
IGL02606:Tektl1 APN 10 78,584,300 (GRCm39) missense probably benign 0.01
IGL03356:Tektl1 APN 10 78,582,966 (GRCm39) missense possibly damaging 0.52
R0096:Tektl1 UTSW 10 78,584,539 (GRCm39) missense probably benign 0.01
R0096:Tektl1 UTSW 10 78,584,539 (GRCm39) missense probably benign 0.01
R0666:Tektl1 UTSW 10 78,586,381 (GRCm39) missense probably benign 0.04
R1756:Tektl1 UTSW 10 78,583,031 (GRCm39) missense probably damaging 0.96
R1757:Tektl1 UTSW 10 78,583,058 (GRCm39) missense probably benign 0.02
R1765:Tektl1 UTSW 10 78,584,502 (GRCm39) missense probably benign 0.21
R1956:Tektl1 UTSW 10 78,586,373 (GRCm39) critical splice donor site probably null
R2305:Tektl1 UTSW 10 78,584,336 (GRCm39) missense probably damaging 1.00
R3802:Tektl1 UTSW 10 78,584,314 (GRCm39) missense probably damaging 1.00
R3845:Tektl1 UTSW 10 78,584,532 (GRCm39) missense probably benign
R4023:Tektl1 UTSW 10 78,588,727 (GRCm39) missense probably benign 0.03
R4808:Tektl1 UTSW 10 78,588,698 (GRCm39) missense probably benign 0.02
R4812:Tektl1 UTSW 10 78,585,050 (GRCm39) missense probably benign 0.01
R5391:Tektl1 UTSW 10 78,588,688 (GRCm39) nonsense probably null
R5434:Tektl1 UTSW 10 78,584,484 (GRCm39) nonsense probably null
R6382:Tektl1 UTSW 10 78,588,675 (GRCm39) missense possibly damaging 0.90
R6743:Tektl1 UTSW 10 78,588,726 (GRCm39) missense probably benign 0.01
R6749:Tektl1 UTSW 10 78,588,672 (GRCm39) missense possibly damaging 0.95
R7177:Tektl1 UTSW 10 78,588,324 (GRCm39) missense probably damaging 1.00
R8158:Tektl1 UTSW 10 78,584,509 (GRCm39) missense probably benign 0.01
R8504:Tektl1 UTSW 10 78,586,463 (GRCm39) missense probably damaging 1.00
R8504:Tektl1 UTSW 10 78,585,038 (GRCm39) missense probably benign 0.00
R8558:Tektl1 UTSW 10 78,583,035 (GRCm39) missense probably damaging 1.00
R8806:Tektl1 UTSW 10 78,588,306 (GRCm39) missense probably damaging 1.00
R8925:Tektl1 UTSW 10 78,588,258 (GRCm39) missense probably damaging 1.00
R8927:Tektl1 UTSW 10 78,588,258 (GRCm39) missense probably damaging 1.00
R9285:Tektl1 UTSW 10 78,588,234 (GRCm39) splice site probably benign
R9407:Tektl1 UTSW 10 78,583,128 (GRCm39) missense probably damaging 0.99
X0057:Tektl1 UTSW 10 78,586,375 (GRCm39) missense probably null 1.00
Posted On 2015-04-16