Incidental Mutation 'IGL01410:Dennd2d'
ID 79946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd2d
Ensembl Gene ENSMUSG00000027901
Gene Name DENN domain containing 2D
Synonyms 2010308M01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL01410
Quality Score
Status
Chromosome 3
Chromosomal Location 106389745-106410346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106398542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 169 (I169L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000149225] [ENSMUST00000183271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029508
AA Change: I166L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: I166L

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
uDENN 47 139 4.15e-27 SMART
DENN 146 330 8.1e-71 SMART
dDENN 368 435 3.38e-18 SMART
low complexity region 447 461 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061206
AA Change: I169L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: I169L

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
uDENN 50 142 4.15e-27 SMART
DENN 149 333 8.1e-71 SMART
dDENN 371 438 3.38e-18 SMART
low complexity region 450 464 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139062
Predicted Effect probably benign
Transcript: ENSMUST00000149225
Predicted Effect probably damaging
Transcript: ENSMUST00000183271
AA Change: I176L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: I176L

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
uDENN 57 149 4.15e-27 SMART
DENN 156 340 8.1e-71 SMART
dDENN 378 445 3.38e-18 SMART
low complexity region 457 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195305
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,145,184 (GRCm39) probably null Het
Aspm C T 1: 139,410,182 (GRCm39) T1359I probably benign Het
Atp13a2 A G 4: 140,719,509 (GRCm39) D26G probably benign Het
Atrnl1 G A 19: 58,119,536 (GRCm39) A1343T probably damaging Het
Ccsap A C 8: 124,585,969 (GRCm39) S61A probably damaging Het
Cdh1 A T 8: 107,384,485 (GRCm39) M318L probably benign Het
Cfap69 G A 5: 5,696,979 (GRCm39) P106S probably damaging Het
Cfp G A X: 20,795,963 (GRCm39) T88I probably damaging Het
Chst1 A T 2: 92,444,475 (GRCm39) I316F probably damaging Het
Col7a1 A T 9: 108,793,686 (GRCm39) D1382V unknown Het
Cr2 T A 1: 194,845,542 (GRCm39) M514L possibly damaging Het
Cubn G A 2: 13,470,719 (GRCm39) H558Y probably benign Het
Cul9 A T 17: 46,839,572 (GRCm39) M802K probably damaging Het
Dnah11 T A 12: 118,010,991 (GRCm39) K162* probably null Het
Dnah3 T A 7: 119,566,943 (GRCm39) T2428S possibly damaging Het
Dock11 T A X: 35,301,296 (GRCm39) H1284Q probably damaging Het
Flrt2 T A 12: 95,745,966 (GRCm39) D101E probably damaging Het
Gabrr2 G A 4: 33,085,626 (GRCm39) V349M probably damaging Het
Gli2 C A 1: 118,764,621 (GRCm39) V1177L probably benign Het
Gm16506 A G 14: 43,961,630 (GRCm39) Y206H probably benign Het
Gm5612 C T 9: 18,338,869 (GRCm39) probably benign Het
Gvin3 C T 7: 106,202,258 (GRCm39) noncoding transcript Het
Heg1 C T 16: 33,545,936 (GRCm39) T460I possibly damaging Het
Lgals9 T G 11: 78,863,977 (GRCm39) D56A probably damaging Het
Lpgat1 A T 1: 191,508,544 (GRCm39) probably null Het
Megf6 T A 4: 154,337,020 (GRCm39) probably null Het
Megf8 G A 7: 25,059,296 (GRCm39) M2265I probably benign Het
Memo1 G A 17: 74,548,976 (GRCm39) R121* probably null Het
Morc1 T C 16: 48,432,677 (GRCm39) V715A probably benign Het
Mycbp2 A T 14: 103,466,928 (GRCm39) probably null Het
Ncapg2 T A 12: 116,388,270 (GRCm39) V318D possibly damaging Het
Ndst1 T C 18: 60,833,517 (GRCm39) Y498C probably damaging Het
Nod1 C T 6: 54,921,341 (GRCm39) A326T probably damaging Het
Or2ag15 A G 7: 106,340,706 (GRCm39) V145A probably benign Het
Or4c11 T A 2: 88,695,864 (GRCm39) M305K probably benign Het
Peg3 T C 7: 6,710,624 (GRCm39) S1533G probably benign Het
Pgc G T 17: 48,045,165 (GRCm39) G361V probably damaging Het
Phka1 C T X: 101,629,712 (GRCm39) R477H probably damaging Het
Plagl2 C T 2: 153,074,574 (GRCm39) R109Q probably damaging Het
Prr36 T A 8: 4,266,230 (GRCm39) I107F probably benign Het
Ptpdc1 T A 13: 48,740,080 (GRCm39) R450S probably damaging Het
Ptprb A T 10: 116,138,179 (GRCm39) D361V possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Scrn2 T G 11: 96,921,396 (GRCm39) V52G probably benign Het
Sdk1 C T 5: 142,197,875 (GRCm39) T2176I probably benign Het
Serpina1d T A 12: 103,729,993 (GRCm39) E396D probably benign Het
Slc38a5 A C X: 8,146,070 (GRCm39) Q465P probably benign Het
Slc38a5 G T X: 8,146,071 (GRCm39) Q465H probably benign Het
Smarca1 T C X: 46,981,255 (GRCm39) T48A possibly damaging Het
Trak2 A T 1: 58,962,766 (GRCm39) I132N probably damaging Het
Trank1 A G 9: 111,194,117 (GRCm39) T714A probably benign Het
Trank1 T C 9: 111,194,327 (GRCm39) S784P probably benign Het
Trp53i13 G A 11: 77,399,083 (GRCm39) probably benign Het
Trrap A C 5: 144,767,831 (GRCm39) D2596A probably benign Het
Ttyh1 A T 7: 4,127,656 (GRCm39) T19S probably damaging Het
Tyk2 C T 9: 21,020,660 (GRCm39) V947M probably damaging Het
Ugt2b34 G A 5: 87,040,689 (GRCm39) A411V possibly damaging Het
Virma T A 4: 11,518,929 (GRCm39) Y725* probably null Het
Vmn1r192 A G 13: 22,372,079 (GRCm39) L47P probably damaging Het
Vmn2r74 T C 7: 85,610,500 (GRCm39) D64G possibly damaging Het
Other mutations in Dennd2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Dennd2d APN 3 106,407,861 (GRCm39) missense possibly damaging 0.45
IGL01397:Dennd2d APN 3 106,394,365 (GRCm39) critical splice donor site probably null 0.00
IGL02022:Dennd2d APN 3 106,407,220 (GRCm39) missense probably benign 0.00
IGL02032:Dennd2d APN 3 106,398,543 (GRCm39) missense probably damaging 1.00
IGL02309:Dennd2d APN 3 106,402,284 (GRCm39) missense probably benign
R0140:Dennd2d UTSW 3 106,399,799 (GRCm39) missense probably benign 0.08
R0648:Dennd2d UTSW 3 106,407,871 (GRCm39) missense probably damaging 0.97
R1519:Dennd2d UTSW 3 106,399,875 (GRCm39) missense probably damaging 1.00
R1539:Dennd2d UTSW 3 106,394,236 (GRCm39) missense probably benign 0.00
R1652:Dennd2d UTSW 3 106,394,317 (GRCm39) missense probably benign 0.00
R1674:Dennd2d UTSW 3 106,399,833 (GRCm39) missense probably benign 0.17
R2179:Dennd2d UTSW 3 106,399,776 (GRCm39) missense probably benign 0.00
R3731:Dennd2d UTSW 3 106,407,271 (GRCm39) missense probably damaging 1.00
R4077:Dennd2d UTSW 3 106,389,939 (GRCm39) unclassified probably benign
R4134:Dennd2d UTSW 3 106,389,977 (GRCm39) missense probably benign 0.34
R4135:Dennd2d UTSW 3 106,389,977 (GRCm39) missense probably benign 0.34
R5214:Dennd2d UTSW 3 106,393,637 (GRCm39) critical splice donor site probably null
R5767:Dennd2d UTSW 3 106,395,131 (GRCm39) intron probably benign
R6001:Dennd2d UTSW 3 106,399,776 (GRCm39) missense probably benign 0.00
R6239:Dennd2d UTSW 3 106,402,193 (GRCm39) missense probably damaging 1.00
R7312:Dennd2d UTSW 3 106,398,579 (GRCm39) missense probably benign 0.38
R7593:Dennd2d UTSW 3 106,407,244 (GRCm39) missense probably damaging 1.00
R8841:Dennd2d UTSW 3 106,393,580 (GRCm39) missense probably benign
R9103:Dennd2d UTSW 3 106,397,684 (GRCm39) missense
R9341:Dennd2d UTSW 3 106,397,730 (GRCm39) critical splice donor site probably null
R9343:Dennd2d UTSW 3 106,397,730 (GRCm39) critical splice donor site probably null
R9388:Dennd2d UTSW 3 106,395,915 (GRCm39) missense possibly damaging 0.93
Z1088:Dennd2d UTSW 3 106,407,190 (GRCm39) nonsense probably null
Posted On 2013-11-05