Incidental Mutation 'R5433:Dynlt5'
ID 428143
Institutional Source Beutler Lab
Gene Symbol Dynlt5
Ensembl Gene ENSMUSG00000028523
Gene Name dynein light chain Tctex-type 5
Synonyms 1700055O19Rik, Tctex1d1
MMRRC Submission 042998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R5433 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 102835900-102862419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102859700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 84 (E84G)
Ref Sequence ENSEMBL: ENSMUSP00000152761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030248] [ENSMUST00000116317] [ENSMUST00000125417] [ENSMUST00000140654] [ENSMUST00000169211] [ENSMUST00000223169]
AlphaFold Q9D5I4
Predicted Effect possibly damaging
Transcript: ENSMUST00000030248
AA Change: E80G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030248
Gene: ENSMUSG00000028523
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Tctex-1 74 171 9.8e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116317
AA Change: E80G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112019
Gene: ENSMUSG00000028523
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Tctex-1 72 172 7.7e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125417
AA Change: E23G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117319
Gene: ENSMUSG00000028523
AA Change: E23G

DomainStartEndE-ValueType
Pfam:Tctex-1 17 114 4.5e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140654
AA Change: E23G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116692
Gene: ENSMUSG00000028523
AA Change: E23G

DomainStartEndE-ValueType
Pfam:Tctex-1 15 99 4.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148892
Predicted Effect possibly damaging
Transcript: ENSMUST00000169211
AA Change: E80G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128228
Gene: ENSMUSG00000028523
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Tctex-1 15 115 3.3e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223169
AA Change: E84G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,657 (GRCm39) S24G probably damaging Het
1810064F22Rik A G 9: 22,119,039 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,592,078 (GRCm39) M589L probably benign Het
Adamts8 A C 9: 30,873,012 (GRCm39) H739P probably benign Het
Atp8b2 T C 3: 89,860,216 (GRCm39) probably benign Het
BC030500 A G 8: 59,366,043 (GRCm39) probably benign Het
Btnl9 T A 11: 49,066,830 (GRCm39) probably benign Het
Cd74 G T 18: 60,940,993 (GRCm39) A31S probably benign Het
Ceacam3 G A 7: 16,893,808 (GRCm39) A440T possibly damaging Het
Ces1d G A 8: 93,912,664 (GRCm39) T258I probably benign Het
Col10a1 A G 10: 34,266,735 (GRCm39) probably benign Het
Coro1b C T 19: 4,203,449 (GRCm39) A430V probably benign Het
Cyp2c65 A T 19: 39,081,928 (GRCm39) I485L probably benign Het
Dio1 A T 4: 107,163,977 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,000,966 (GRCm39) probably null Het
Elp6 A G 9: 110,144,851 (GRCm39) Y136C probably damaging Het
Gon4l A T 3: 88,803,532 (GRCm39) Q1382L possibly damaging Het
Guca1a T C 17: 47,711,295 (GRCm39) E17G probably damaging Het
Gucy2d G A 7: 98,098,982 (GRCm39) G267E probably damaging Het
Gvin3 T A 7: 106,199,314 (GRCm39) noncoding transcript Het
Hspg2 T A 4: 137,256,105 (GRCm39) probably null Het
Il1a G T 2: 129,149,821 (GRCm39) D26E possibly damaging Het
Il22b T A 10: 118,130,789 (GRCm39) I36F probably damaging Het
Kcna1 A T 6: 126,620,075 (GRCm39) F82I probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lamtor5 T G 3: 107,189,323 (GRCm39) C120G probably benign Het
Lars1 A G 18: 42,384,363 (GRCm39) C72R possibly damaging Het
Lrrfip1 T G 1: 91,014,848 (GRCm39) probably null Het
Mapkapk3 T C 9: 107,133,491 (GRCm39) D349G probably damaging Het
Mknk2 A T 10: 80,503,059 (GRCm39) I421N probably benign Het
Myh6 A G 14: 55,191,381 (GRCm39) I820T probably benign Het
Notch2 T G 3: 98,033,450 (GRCm39) V1182G probably damaging Het
Or1af1 T G 2: 37,109,684 (GRCm39) F61C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2z2 C T 11: 58,346,680 (GRCm39) V32M probably damaging Het
Ppfia4 A T 1: 134,245,632 (GRCm39) S641T probably damaging Het
Prok1 T A 3: 107,146,949 (GRCm39) H6L probably benign Het
Ptprm A T 17: 67,000,468 (GRCm39) V1172E probably damaging Het
Rasal3 C T 17: 32,612,575 (GRCm39) R762Q probably benign Het
Rgs20 G T 1: 5,140,333 (GRCm39) A23E possibly damaging Het
Rprd1a T C 18: 24,640,288 (GRCm39) T163A probably benign Het
Rrm1 A T 7: 102,114,974 (GRCm39) N37I probably damaging Het
Shc4 T A 2: 125,481,350 (GRCm39) E520V probably damaging Het
Slc14a2 G T 18: 78,252,143 (GRCm39) P56Q probably damaging Het
Slc22a3 C T 17: 12,677,377 (GRCm39) G264S probably damaging Het
Svil A G 18: 5,059,294 (GRCm39) E770G probably damaging Het
Svop A G 5: 114,198,186 (GRCm39) V129A probably damaging Het
Szt2 A T 4: 118,232,663 (GRCm39) probably benign Het
Tcof1 T C 18: 60,951,105 (GRCm39) probably benign Het
Tmem30a T A 9: 79,687,930 (GRCm39) I80F probably damaging Het
Vmn2r16 G T 5: 109,511,708 (GRCm39) L638F probably damaging Het
Xkr7 T A 2: 152,896,244 (GRCm39) I366N probably damaging Het
Zer1 A G 2: 29,990,998 (GRCm39) probably benign Het
Other mutations in Dynlt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02650:Dynlt5 APN 4 102,845,803 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGGGAGCCTGGTAAATTCG -3'
(R):5'- TGTGCCATTGAACTGATCCTG -3'

Sequencing Primer
(F):5'- GAAAAGCCTGACCCTAATTGTG -3'
(R):5'- GTGCCATTGAACTGATCCTGAAAATG -3'
Posted On 2016-09-01