Incidental Mutation 'R0040:Dctn4'
ID15430
Institutional Source Beutler Lab
Gene Symbol Dctn4
Ensembl Gene ENSMUSG00000024603
Gene Namedynactin 4
Synonymsp62, 1110001K06Rik, 4930547K17Rik, C130039E17Rik
MMRRC Submission 038334-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.940) question?
Stock #R0040 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location60526185-60558766 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60544042 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 145 (N145D)
Ref Sequence ENSEMBL: ENSMUSP00000153008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025505] [ENSMUST00000223984]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025505
AA Change: N145D

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025505
Gene: ENSMUSG00000024603
AA Change: N145D

DomainStartEndE-ValueType
Pfam:Dynactin_p62 23 172 4.8e-24 PFAM
Pfam:Dynactin_p62 125 378 8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223794
Predicted Effect possibly damaging
Transcript: ENSMUST00000223984
AA Change: N145D

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225005
Meta Mutation Damage Score 0.132 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,645,206 L356R possibly damaging Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Arpp21 T C 9: 112,147,409 probably benign Het
Atcay C T 10: 81,210,519 probably null Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Cacng5 A T 11: 107,884,510 L11Q probably damaging Het
Ccdc73 T C 2: 104,992,084 S793P probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Csmd3 G A 15: 47,633,816 P3062S probably damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gucy2g T A 19: 55,217,302 T709S possibly damaging Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kri1 T C 9: 21,281,105 Y131C probably damaging Het
Krt71 T A 15: 101,738,433 H280L possibly damaging Het
Lox A T 18: 52,520,826 H399Q possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Mpp7 A T 18: 7,403,180 probably benign Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Olfml2b A G 1: 170,668,751 H317R probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Pira6 A G 7: 4,281,483 noncoding transcript Het
Pkhd1l1 T A 15: 44,573,625 Y3460N probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rnf168 T A 16: 32,278,173 probably null Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Scara5 C T 14: 65,762,717 probably benign Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Synpr G A 14: 13,563,024 A86T probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Wdpcp A G 11: 21,711,638 I303M probably damaging Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zfp867 C T 11: 59,463,865 A213T possibly damaging Het
Zkscan3 A T 13: 21,394,920 probably null Het
Other mutations in Dctn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Dctn4 APN 18 60544130 missense probably benign 0.12
R1406:Dctn4 UTSW 18 60556330 missense probably benign
R1406:Dctn4 UTSW 18 60556330 missense probably benign
R1464:Dctn4 UTSW 18 60538406 missense probably damaging 0.97
R1464:Dctn4 UTSW 18 60538406 missense probably damaging 0.97
R1785:Dctn4 UTSW 18 60546335 critical splice donor site probably null
R1786:Dctn4 UTSW 18 60546335 critical splice donor site probably null
R2035:Dctn4 UTSW 18 60538417 missense possibly damaging 0.91
R2064:Dctn4 UTSW 18 60538277 missense possibly damaging 0.60
R4020:Dctn4 UTSW 18 60538257 splice site probably benign
R4748:Dctn4 UTSW 18 60550236 missense probably damaging 1.00
R4786:Dctn4 UTSW 18 60555195 missense probably damaging 1.00
R4976:Dctn4 UTSW 18 60556392 missense probably benign 0.00
R5034:Dctn4 UTSW 18 60552884 missense probably benign 0.23
R5110:Dctn4 UTSW 18 60546315 missense probably damaging 0.96
R6210:Dctn4 UTSW 18 60546793 nonsense probably null
Posted On2012-12-21