Incidental Mutation 'IGL00513:Dennd2d'
ID6789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd2d
Ensembl Gene ENSMUSG00000027901
Gene NameDENN/MADD domain containing 2D
Synonyms2010308M01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL00513
Quality Score
Status
Chromosome3
Chromosomal Location106482405-106503030 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106500545 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 457 (Q457L)
Ref Sequence ENSEMBL: ENSMUSP00000138462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000183271] [ENSMUST00000192438]
Predicted Effect probably benign
Transcript: ENSMUST00000029508
AA Change: Q447L

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: Q447L

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 benign
Transcript: ENSMUST00000039153
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 229 6.4e-23 PFAM
transmembrane domain 249 271 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
transmembrane domain 316 338 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061206
AA Change: Q450L

PolyPhen 2 Score 0.020 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: Q450L

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 probably benign
Transcript: ENSMUST00000068301
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 328 3.2e-21 PFAM
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121231
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 83 158 7.4e-18 PFAM
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183271
AA Change: Q457L

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: Q457L

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 probably benign
Transcript: ENSMUST00000192438
SMART Domains Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 215 2.3e-20 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,578,156 I157F possibly damaging Het
Adamts12 T A 15: 11,256,961 S467T probably benign Het
Cacna1a T C 8: 84,553,056 I680T probably damaging Het
Fndc1 T C 17: 7,765,254 Y1280C unknown Het
Gtpbp10 A T 5: 5,546,372 M112K possibly damaging Het
Kcnh7 C T 2: 62,764,691 M678I probably benign Het
Kif20b C A 19: 34,947,660 T739K possibly damaging Het
Plk2 T A 13: 110,398,764 M444K probably benign Het
Scn1a T G 2: 66,335,531 probably null Het
Sycp1 A T 3: 102,840,962 I838K probably benign Het
Ugt2b36 T C 5: 87,081,581 D341G possibly damaging Het
Vps13b A T 15: 35,793,884 L2235F probably damaging Het
Wdr7 T A 18: 63,720,775 L60I possibly damaging Het
Other mutations in Dennd2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Dennd2d APN 3 106487049 critical splice donor site probably null 0.00
IGL01410:Dennd2d APN 3 106491226 missense probably damaging 1.00
IGL02022:Dennd2d APN 3 106499904 missense probably benign 0.00
IGL02032:Dennd2d APN 3 106491227 missense probably damaging 1.00
IGL02309:Dennd2d APN 3 106494968 missense probably benign
R0140:Dennd2d UTSW 3 106492483 missense probably benign 0.08
R0648:Dennd2d UTSW 3 106500555 missense probably damaging 0.97
R1519:Dennd2d UTSW 3 106492559 missense probably damaging 1.00
R1539:Dennd2d UTSW 3 106486920 missense probably benign 0.00
R1652:Dennd2d UTSW 3 106487001 missense probably benign 0.00
R1674:Dennd2d UTSW 3 106492517 missense probably benign 0.17
R2179:Dennd2d UTSW 3 106492460 missense probably benign 0.00
R3731:Dennd2d UTSW 3 106499955 missense probably damaging 1.00
R4077:Dennd2d UTSW 3 106482623 unclassified probably benign
R4134:Dennd2d UTSW 3 106482661 missense probably benign 0.34
R4135:Dennd2d UTSW 3 106482661 missense probably benign 0.34
R5214:Dennd2d UTSW 3 106486321 critical splice donor site probably null
R5767:Dennd2d UTSW 3 106487815 intron probably benign
R6001:Dennd2d UTSW 3 106492460 missense probably benign 0.00
R6239:Dennd2d UTSW 3 106494877 missense probably damaging 1.00
R7312:Dennd2d UTSW 3 106491263 missense probably benign 0.38
R7593:Dennd2d UTSW 3 106499928 missense probably damaging 1.00
Z1088:Dennd2d UTSW 3 106499874 nonsense probably null
Posted On2012-04-20