Incidental Mutation 'R8040:Dnal4'
ID 618488
Institutional Source Beutler Lab
Gene Symbol Dnal4
Ensembl Gene ENSMUSG00000022420
Gene Name dynein, axonemal, light chain 4
Synonyms Dnalc4, D15Ertd424e
MMRRC Submission 067477-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R8040 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79645654-79658649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79646169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000070325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023055] [ENSMUST00000069877] [ENSMUST00000162713] [ENSMUST00000229644] [ENSMUST00000230645]
AlphaFold Q9DCM4
Predicted Effect probably benign
Transcript: ENSMUST00000023055
SMART Domains Protein: ENSMUSP00000023055
Gene: ENSMUSG00000022420

DomainStartEndE-ValueType
Pfam:Dynein_light 15 105 5.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069877
AA Change: T112A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070325
Gene: ENSMUSG00000022420
AA Change: T112A

DomainStartEndE-ValueType
Dynein_light 15 93 1.24e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162713
Predicted Effect probably benign
Transcript: ENSMUST00000229644
Predicted Effect probably benign
Transcript: ENSMUST00000230645
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,765,035 (GRCm39) D675V probably benign Het
Adam21 T C 12: 81,607,211 (GRCm39) R184G probably benign Het
Adcy10 A G 1: 165,379,593 (GRCm39) K952E probably damaging Het
Allc A T 12: 28,605,351 (GRCm39) I316N probably damaging Het
Ano8 T C 8: 71,934,812 (GRCm39) T432A probably benign Het
Cadps2 C A 6: 23,412,942 (GRCm39) probably benign Het
Camsap2 T C 1: 136,208,985 (GRCm39) S168G Het
Ccl19 T C 4: 42,756,297 (GRCm39) S12G probably damaging Het
Cfap91 A G 16: 38,140,733 (GRCm39) S407P possibly damaging Het
Cltc A G 11: 86,616,031 (GRCm39) S412P probably damaging Het
Cwc25 A G 11: 97,641,696 (GRCm39) probably null Het
Cxcr4 A G 1: 128,517,535 (GRCm39) F42S probably damaging Het
Cyp4a12a A G 4: 115,183,412 (GRCm39) Q177R probably benign Het
Dock9 C A 14: 121,889,206 (GRCm39) G304C probably benign Het
Evpl T C 11: 116,113,758 (GRCm39) T1311A probably damaging Het
Fat4 T C 3: 39,035,815 (GRCm39) Y3156H probably damaging Het
Golgb1 A G 16: 36,733,841 (GRCm39) I1070M possibly damaging Het
Hcls1 A G 16: 36,771,511 (GRCm39) D139G probably damaging Het
Ighv1-7 A G 12: 114,502,390 (GRCm39) S26P probably benign Het
Il1r1 A T 1: 40,352,509 (GRCm39) T563S probably benign Het
Kcna1 C T 6: 126,619,703 (GRCm39) D206N probably benign Het
Kcnk4 A G 19: 6,904,995 (GRCm39) Y219H probably damaging Het
Kcnt2 G A 1: 140,377,955 (GRCm39) A403T probably damaging Het
Mdp1 T A 14: 55,897,523 (GRCm39) N44I probably benign Het
Nceh1 A G 3: 27,295,374 (GRCm39) N212D probably benign Het
Nynrin G A 14: 56,108,982 (GRCm39) G1363D probably benign Het
Or5d20-ps1 T A 2: 87,931,703 (GRCm39) R209S unknown Het
Or6n1 T C 1: 173,916,723 (GRCm39) I39T possibly damaging Het
Or6x1 A G 9: 40,098,717 (GRCm39) H102R probably damaging Het
Or8d1 T A 9: 38,766,460 (GRCm39) I34N probably damaging Het
Parp2 T A 14: 51,047,630 (GRCm39) M47K probably benign Het
Pfdn6 T C 17: 34,158,951 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plb1 T A 5: 32,430,413 (GRCm39) H123Q possibly damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Prodh2 A G 7: 30,205,836 (GRCm39) D238G probably damaging Het
Rad51ap2 T A 12: 11,508,792 (GRCm39) S905T probably benign Het
Sclt1 C T 3: 41,611,811 (GRCm39) R487H probably damaging Het
Serpina3b A G 12: 104,097,335 (GRCm39) I205M probably benign Het
Sowahb A G 5: 93,191,292 (GRCm39) S476P possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tent4a A G 13: 69,648,600 (GRCm39) Y719H probably damaging Het
Tnxb T C 17: 34,935,532 (GRCm39) Y2611H probably damaging Het
Uggt1 T C 1: 36,250,554 (GRCm39) E237G possibly damaging Het
Vmn1r87 T A 7: 12,866,086 (GRCm39) Y67F possibly damaging Het
Vmn2r107 G A 17: 20,595,808 (GRCm39) C787Y probably damaging Het
Zscan4-ps3 T A 7: 11,346,600 (GRCm39) I212N probably damaging Het
Other mutations in Dnal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Dnal4 APN 15 79,646,606 (GRCm39) missense probably damaging 0.98
IGL02726:Dnal4 APN 15 79,647,745 (GRCm39) missense probably damaging 1.00
PIT4362001:Dnal4 UTSW 15 79,647,766 (GRCm39) missense probably benign
R0926:Dnal4 UTSW 15 79,646,226 (GRCm39) missense probably benign
R5134:Dnal4 UTSW 15 79,647,766 (GRCm39) missense possibly damaging 0.89
R5431:Dnal4 UTSW 15 79,646,648 (GRCm39) missense probably damaging 1.00
R6248:Dnal4 UTSW 15 79,646,714 (GRCm39) missense probably damaging 0.97
R8309:Dnal4 UTSW 15 79,646,711 (GRCm39) missense probably benign 0.39
R9380:Dnal4 UTSW 15 79,647,790 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GTGAAAGGTTCATGTGGCCC -3'
(R):5'- TTGTCTCCAAGCTCTGAGC -3'

Sequencing Primer
(F):5'- TTCATGTGGCCCGAGCTG -3'
(R):5'- ACAGGCATCTCTGTGTGC -3'
Posted On 2020-01-23