Incidental Mutation 'IGL02187:Dennd6a'
ID 283686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd6a
Ensembl Gene ENSMUSG00000040818
Gene Name DENN domain containing 6A
Synonyms A630054L15Rik, Fam116a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL02187
Quality Score
Status
Chromosome 14
Chromosomal Location 26295013-26355477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26328081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 35 (I35V)
Ref Sequence ENSEMBL: ENSMUSP00000153200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]
AlphaFold Q8BH65
Predicted Effect probably benign
Transcript: ENSMUST00000037585
AA Change: I259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: I259V

DomainStartEndE-ValueType
low complexity region 17 51 N/A INTRINSIC
Pfam:Avl9 59 200 2.9e-11 PFAM
Pfam:DENN 165 371 1.1e-7 PFAM
Pfam:SPA 265 373 4.2e-18 PFAM
low complexity region 379 390 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
low complexity region 526 541 N/A INTRINSIC
low complexity region 554 563 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203874
AA Change: I259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: I259V

DomainStartEndE-ValueType
low complexity region 17 51 N/A INTRINSIC
Pfam:Avl9 59 200 2.6e-11 PFAM
Pfam:DENN 165 371 9.7e-8 PFAM
Pfam:SPA 265 373 3.7e-18 PFAM
low complexity region 379 390 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
low complexity region 526 537 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224111
AA Change: I35V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224248
AA Change: I35V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224378
AA Change: I35V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225206
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
C8a C A 4: 104,719,933 (GRCm39) R15L probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cdhr2 C T 13: 54,881,523 (GRCm39) T1081I possibly damaging Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Gprasp1 T A X: 134,699,912 (GRCm39) V35E probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mrpl51 A G 6: 125,170,294 (GRCm39) N100S probably benign Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Ppp1r13b G T 12: 111,801,472 (GRCm39) T404K probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L probably damaging Het
Other mutations in Dennd6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Dennd6a APN 14 26,329,768 (GRCm39) missense probably damaging 1.00
IGL01011:Dennd6a APN 14 26,324,209 (GRCm39) missense probably damaging 0.99
IGL01395:Dennd6a APN 14 26,338,056 (GRCm39) nonsense probably null
IGL01559:Dennd6a APN 14 26,329,720 (GRCm39) missense probably damaging 1.00
IGL01590:Dennd6a APN 14 26,340,507 (GRCm39) missense probably benign 0.40
IGL03296:Dennd6a APN 14 26,338,115 (GRCm39) critical splice donor site probably null
R1831:Dennd6a UTSW 14 26,328,109 (GRCm39) missense probably damaging 1.00
R1833:Dennd6a UTSW 14 26,328,109 (GRCm39) missense probably damaging 1.00
R2020:Dennd6a UTSW 14 26,333,158 (GRCm39) missense probably damaging 0.99
R2032:Dennd6a UTSW 14 26,325,904 (GRCm39) missense probably benign 0.42
R2036:Dennd6a UTSW 14 26,329,274 (GRCm39) missense probably damaging 0.99
R3707:Dennd6a UTSW 14 26,313,546 (GRCm39) splice site probably benign
R4112:Dennd6a UTSW 14 26,349,673 (GRCm39) intron probably benign
R4728:Dennd6a UTSW 14 26,348,575 (GRCm39) missense probably null 1.00
R5053:Dennd6a UTSW 14 26,329,738 (GRCm39) missense probably damaging 1.00
R5760:Dennd6a UTSW 14 26,333,195 (GRCm39) missense probably damaging 0.99
R5774:Dennd6a UTSW 14 26,300,974 (GRCm39) missense probably benign
R5775:Dennd6a UTSW 14 26,340,528 (GRCm39) nonsense probably null
R6238:Dennd6a UTSW 14 26,337,813 (GRCm39) critical splice donor site probably null
R6446:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 1.00
R6734:Dennd6a UTSW 14 26,329,774 (GRCm39) missense possibly damaging 0.84
R7289:Dennd6a UTSW 14 26,333,193 (GRCm39) missense probably damaging 1.00
R7436:Dennd6a UTSW 14 26,300,865 (GRCm39) nonsense probably null
R7887:Dennd6a UTSW 14 26,320,812 (GRCm39) missense possibly damaging 0.50
R8348:Dennd6a UTSW 14 26,328,098 (GRCm39) missense possibly damaging 0.87
R8448:Dennd6a UTSW 14 26,328,098 (GRCm39) missense possibly damaging 0.87
R8847:Dennd6a UTSW 14 26,327,086 (GRCm39) missense probably benign 0.19
R9102:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 0.99
R9536:Dennd6a UTSW 14 26,329,758 (GRCm39) nonsense probably null
R9745:Dennd6a UTSW 14 26,320,818 (GRCm39) missense possibly damaging 0.94
RF003:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16