Incidental Mutation 'R6238:Dennd6a'
ID 505077
Institutional Source Beutler Lab
Gene Symbol Dennd6a
Ensembl Gene ENSMUSG00000040818
Gene Name DENN domain containing 6A
Synonyms A630054L15Rik, Fam116a
MMRRC Submission 044401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R6238 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 26295013-26355477 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 26337813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224248] [ENSMUST00000224378] [ENSMUST00000224378]
AlphaFold Q8BH65
Predicted Effect probably null
Transcript: ENSMUST00000037585
SMART Domains Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818

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 null
Transcript: ENSMUST00000037585
SMART Domains Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818

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 null
Transcript: ENSMUST00000203874
SMART Domains Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818

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 null
Transcript: ENSMUST00000203874
SMART Domains Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818

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 null
Transcript: ENSMUST00000224111
Predicted Effect probably null
Transcript: ENSMUST00000224111
Predicted Effect probably null
Transcript: ENSMUST00000224248
Predicted Effect probably null
Transcript: ENSMUST00000224248
Predicted Effect probably null
Transcript: ENSMUST00000224378
Predicted Effect probably null
Transcript: ENSMUST00000224378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225206
Meta Mutation Damage Score 0.9472 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,096 (GRCm39) T2P possibly damaging Het
2610042L04Rik A G 14: 4,348,962 (GRCm38) N41S probably damaging Het
4933402N03Rik T C 7: 130,747,863 (GRCm39) D43G probably benign Het
Adcy10 C A 1: 165,403,297 (GRCm39) Y1598* probably null Het
Adgrv1 G A 13: 81,614,402 (GRCm39) T3997M probably benign Het
Amfr A C 8: 94,726,992 (GRCm39) F74V probably damaging Het
Ankrd13a T C 5: 114,924,787 (GRCm39) Y91H probably benign Het
Baiap3 A G 17: 25,464,732 (GRCm39) S767P probably benign Het
Car12 C T 9: 66,661,008 (GRCm39) T124I probably damaging Het
Casp9 G T 4: 141,534,448 (GRCm39) G286V probably damaging Het
Cc2d2a T A 5: 43,828,577 (GRCm39) D18E probably benign Het
Cdc27 T C 11: 104,419,270 (GRCm39) N221D probably damaging Het
Cebpz A G 17: 79,244,339 (GRCm39) S41P possibly damaging Het
Cenpo T A 12: 4,281,968 (GRCm39) S10C possibly damaging Het
Chid1 A G 7: 141,076,049 (GRCm39) V368A probably benign Het
Clca3a1 C A 3: 144,714,716 (GRCm39) V634L probably benign Het
Cmtr1 A G 17: 29,901,122 (GRCm39) D683G probably damaging Het
Cpsf3 G T 12: 21,350,163 (GRCm39) R294L probably damaging Het
Ddrgk1 G A 2: 130,496,599 (GRCm39) T255M possibly damaging Het
Dnah10 A G 5: 124,820,743 (GRCm39) R526G probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Efcab10 T C 12: 33,448,433 (GRCm39) Y89H probably damaging Het
Etl4 T A 2: 20,806,379 (GRCm39) D1200E probably damaging Het
Fbn1 T A 2: 125,166,865 (GRCm39) D2017V probably damaging Het
Ftmt G A 18: 52,465,307 (GRCm39) V208M probably damaging Het
Fzd10 T C 5: 128,679,995 (GRCm39) Y572H probably damaging Het
Gcc1 T C 6: 28,420,742 (GRCm39) K39E probably damaging Het
Hydin A G 8: 111,118,743 (GRCm39) probably null Het
Lif A G 11: 4,218,940 (GRCm39) E73G possibly damaging Het
Lrtm1 C A 14: 28,749,628 (GRCm39) Q357K probably benign Het
Mef2d T A 3: 88,066,852 (GRCm39) L205Q probably damaging Het
Naalad2 T A 9: 18,296,361 (GRCm39) E96D probably damaging Het
Nbas T C 12: 13,532,596 (GRCm39) I1768T probably benign Het
Nodal T C 10: 61,259,258 (GRCm39) S232P probably damaging Het
Or52ab7 A T 7: 102,978,115 (GRCm39) I141F possibly damaging Het
Or8b12c A G 9: 37,715,317 (GRCm39) T37A probably benign Het
Parl G A 16: 20,120,963 (GRCm39) R39C possibly damaging Het
Pcdha9 G A 18: 37,132,028 (GRCm39) V366I probably benign Het
Pdzd8 A G 19: 59,288,994 (GRCm39) V802A probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Plxna2 T A 1: 194,472,504 (GRCm39) S1083T probably benign Het
Polr2a G T 11: 69,638,047 (GRCm39) L141I possibly damaging Het
Ptpre C A 7: 135,272,909 (GRCm39) R468S probably damaging Het
Raet1e T A 10: 22,056,770 (GRCm39) N115K probably benign Het
Rfx8 C A 1: 39,709,554 (GRCm39) S491I probably damaging Het
Rpe T A 1: 66,740,807 (GRCm39) L48* probably null Het
Skint5 A T 4: 113,800,064 (GRCm39) probably null Het
Spata24 C A 18: 35,793,389 (GRCm39) S111I possibly damaging Het
Suz12 G C 11: 79,893,006 (GRCm39) probably benign Het
Taf4 T A 2: 179,573,832 (GRCm39) I679F probably damaging Het
Tlr1 G T 5: 65,084,472 (GRCm39) P35Q possibly damaging Het
Tonsl T C 15: 76,520,418 (GRCm39) probably null Het
Tsen54 G A 11: 115,711,513 (GRCm39) R310H probably benign Het
Ttc7b A G 12: 100,461,681 (GRCm39) S99P probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uhmk1 T A 1: 170,027,563 (GRCm39) N378I probably damaging Het
Vmn2r107 A G 17: 20,565,849 (GRCm39) T55A probably benign Het
Vmn2r74 C T 7: 85,601,280 (GRCm39) C786Y probably damaging Het
Wdr20rt C T 12: 65,272,964 (GRCm39) probably benign Het
Zfand2a T A 5: 139,467,746 (GRCm39) H42L probably damaging Het
Zfp990 T A 4: 145,264,483 (GRCm39) C494S probably damaging Het
Zkscan4 A T 13: 21,668,757 (GRCm39) R403W possibly 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
IGL02187:Dennd6a APN 14 26,328,081 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACTGAGTGAGCGGAGTTGAC -3'
(R):5'- AGCCAACAACCTAGGTGAGTATATAC -3'

Sequencing Primer
(F):5'- GAGCAGAGGTCCTAAAATTCAGTTCC -3'
(R):5'- GATTGTGCAAGCCACACT -3'
Posted On 2018-02-28