Incidental Mutation 'IGL02650:Dynlt5'
ID 302120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dynlt5
Ensembl Gene ENSMUSG00000028523
Gene Name dynein light chain Tctex-type 5
Synonyms 1700055O19Rik, Tctex1d1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02650
Quality Score
Status
Chromosome 4
Chromosomal Location 102835900-102862419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102845803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 12 (Q12K)
Ref Sequence ENSEMBL: ENSMUSP00000128228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030248] [ENSMUST00000116317] [ENSMUST00000125417] [ENSMUST00000140654] [ENSMUST00000169211] [ENSMUST00000220547] [ENSMUST00000223169]
AlphaFold Q9D5I4
Predicted Effect probably benign
Transcript: ENSMUST00000030248
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030248
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 74 171 9.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116317
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112019
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 72 172 7.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125417
SMART Domains Protein: ENSMUSP00000117319
Gene: ENSMUSG00000028523

DomainStartEndE-ValueType
Pfam:Tctex-1 17 114 4.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139883
Predicted Effect probably benign
Transcript: ENSMUST00000140654
SMART Domains Protein: ENSMUSP00000116692
Gene: ENSMUSG00000028523

DomainStartEndE-ValueType
Pfam:Tctex-1 15 99 4.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149348
Predicted Effect probably benign
Transcript: ENSMUST00000169211
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128228
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 15 115 3.3e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220547
Predicted Effect probably benign
Transcript: ENSMUST00000223169
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,881 (GRCm39) T586A probably benign Het
Acads G T 5: 115,250,874 (GRCm39) T141N probably benign Het
Ankmy1 C T 1: 92,808,745 (GRCm39) R721H probably damaging Het
Appl1 A G 14: 26,672,665 (GRCm39) V236A possibly damaging Het
Arhgef5 C T 6: 43,249,869 (GRCm39) Q207* probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp6v0a2 G T 5: 124,789,426 (GRCm39) probably benign Het
Cenpf T C 1: 189,384,670 (GRCm39) K2537E possibly damaging Het
Cox7a1 A T 7: 29,884,562 (GRCm39) E32V possibly damaging Het
Dis3 A T 14: 99,336,221 (GRCm39) M95K probably benign Het
Dnah5 A T 15: 28,289,193 (GRCm39) probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ghsr A T 3: 27,429,004 (GRCm39) Q343L probably benign Het
Gm3252 T A 14: 4,746,353 (GRCm38) V215E probably damaging Het
Gm9979 A G 13: 40,859,225 (GRCm39) noncoding transcript Het
Grik2 A T 10: 48,977,331 (GRCm39) M867K probably benign Het
Grm7 A G 6: 111,335,919 (GRCm39) T777A probably damaging Het
Hc T A 2: 34,890,886 (GRCm39) Q1310L possibly damaging Het
Ifi44 A G 3: 151,451,492 (GRCm39) F205L probably damaging Het
Igkv4-86 T C 6: 68,887,617 (GRCm39) I40V probably benign Het
Jag1 T C 2: 136,957,505 (GRCm39) D69G possibly damaging Het
Lrch1 T C 14: 75,051,138 (GRCm39) D333G probably damaging Het
Mapre3 T A 5: 31,022,053 (GRCm39) I187N probably damaging Het
Myo15b T C 11: 115,777,337 (GRCm39) probably null Het
Nanos2 C T 7: 18,721,794 (GRCm39) P89S probably damaging Het
Or4c109 T A 2: 88,818,424 (GRCm39) M41L probably benign Het
Parp16 G A 9: 65,141,098 (GRCm39) V223I probably damaging Het
Rnf123 A G 9: 107,946,947 (GRCm39) M231T probably benign Het
Suco C A 1: 161,676,322 (GRCm39) probably benign Het
Synj1 G T 16: 90,773,584 (GRCm39) T459N probably benign Het
Taf4b C T 18: 14,975,040 (GRCm39) Q732* probably null Het
Tas2r102 A G 6: 132,739,173 (GRCm39) N27S probably null Het
Tll1 C T 8: 64,500,031 (GRCm39) probably benign Het
Vmn1r168 A G 7: 23,240,916 (GRCm39) I258V probably benign Het
Vmn2r71 T A 7: 85,273,535 (GRCm39) M783K probably damaging Het
Vmn2r98 G A 17: 19,301,223 (GRCm39) V742I probably benign Het
Other mutations in Dynlt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Dynlt5 APN 4 102,849,769 (GRCm39) missense probably damaging 1.00
IGL03022:Dynlt5 APN 4 102,859,714 (GRCm39) missense probably benign 0.00
R0127:Dynlt5 UTSW 4 102,859,649 (GRCm39) splice site probably benign
R0685:Dynlt5 UTSW 4 102,859,735 (GRCm39) missense probably damaging 1.00
R4695:Dynlt5 UTSW 4 102,861,426 (GRCm39) missense probably damaging 0.98
R5274:Dynlt5 UTSW 4 102,859,768 (GRCm39) missense possibly damaging 0.85
R5433:Dynlt5 UTSW 4 102,859,700 (GRCm39) missense possibly damaging 0.75
R5950:Dynlt5 UTSW 4 102,861,447 (GRCm39) missense probably damaging 1.00
R6196:Dynlt5 UTSW 4 102,849,766 (GRCm39) missense possibly damaging 0.89
R6245:Dynlt5 UTSW 4 102,845,864 (GRCm39) missense probably benign 0.02
R9270:Dynlt5 UTSW 4 102,845,955 (GRCm39) splice site probably null
Posted On 2015-04-16