Incidental Mutation 'IGL02726:Dnal4'
ID305226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnal4
Ensembl Gene ENSMUSG00000022420
Gene Namedynein, axonemal, light chain 4
SynonymsD15Ertd424e, Dnalc4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.370) question?
Stock #IGL02726
Quality Score
Status
Chromosome15
Chromosomal Location79761453-79777849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79763544 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000070325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023055] [ENSMUST00000069877] [ENSMUST00000162713] [ENSMUST00000229644] [ENSMUST00000230645]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023055
AA Change: V40A

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023055
Gene: ENSMUSG00000022420
AA Change: V40A

DomainStartEndE-ValueType
Pfam:Dynein_light 15 105 5.8e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069877
AA Change: V40A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070325
Gene: ENSMUSG00000022420
AA Change: V40A

DomainStartEndE-ValueType
Dynein_light 15 93 1.24e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162713
AA Change: V40A

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000229644
Predicted Effect probably damaging
Transcript: ENSMUST00000230645
AA Change: V39A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Dnal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Dnal4 APN 15 79762405 missense probably damaging 0.98
PIT4362001:Dnal4 UTSW 15 79763565 missense probably benign
R0926:Dnal4 UTSW 15 79762025 missense probably benign
R5134:Dnal4 UTSW 15 79763565 missense possibly damaging 0.89
R5431:Dnal4 UTSW 15 79762447 missense probably damaging 1.00
R6248:Dnal4 UTSW 15 79762513 missense probably damaging 0.97
Posted On2015-04-16