Incidental Mutation 'IGL01124:Dennd4b'
ID50769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene NameDENN/MADD domain containing 4B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL01124
Quality Score
Status
Chromosome3
Chromosomal Location90265185-90280669 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 90269074 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 243 (T243S)
Ref Sequence ENSEMBL: ENSMUSP00000117354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000098914] [ENSMUST00000129564] [ENSMUST00000184882]
Predicted Effect probably benign
Transcript: ENSMUST00000029545
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
Pfam:TORC_N 18 72 1.8e-20 PFAM
low complexity region 127 141 N/A INTRINSIC
Pfam:TORC_M 168 323 3.7e-71 PFAM
low complexity region 335 384 N/A INTRINSIC
low complexity region 391 416 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 484 494 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Pfam:TORC_C 614 691 4.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098914
AA Change: T254S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: T254S

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
uDENN 183 290 1.15e-29 SMART
DENN 324 508 5.26e-70 SMART
dDENN 573 647 1.75e-25 SMART
low complexity region 672 690 N/A INTRINSIC
low complexity region 740 752 N/A INTRINSIC
coiled coil region 902 928 N/A INTRINSIC
low complexity region 1022 1038 N/A INTRINSIC
low complexity region 1086 1096 N/A INTRINSIC
low complexity region 1114 1127 N/A INTRINSIC
low complexity region 1131 1148 N/A INTRINSIC
low complexity region 1338 1350 N/A INTRINSIC
low complexity region 1424 1439 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129564
AA Change: T243S

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: T243S

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
uDENN 172 279 1.15e-29 SMART
DENN 313 497 5.26e-70 SMART
dDENN 562 636 1.75e-25 SMART
low complexity region 661 679 N/A INTRINSIC
low complexity region 729 741 N/A INTRINSIC
coiled coil region 891 917 N/A INTRINSIC
low complexity region 1011 1027 N/A INTRINSIC
low complexity region 1075 1085 N/A INTRINSIC
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1120 1137 N/A INTRINSIC
low complexity region 1327 1339 N/A INTRINSIC
low complexity region 1413 1428 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149422
Predicted Effect unknown
Transcript: ENSMUST00000151648
AA Change: T20S
SMART Domains Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404
AA Change: T20S

DomainStartEndE-ValueType
uDENN 2 57 3.71e-6 SMART
Pfam:DENN 91 157 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156358
SMART Domains Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
Blast:uDENN 39 97 9e-6 BLAST
Blast:uDENN 164 207 1e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183900
Predicted Effect probably benign
Transcript: ENSMUST00000184882
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:TORC_M 83 239 6.5e-65 PFAM
low complexity region 250 299 N/A INTRINSIC
low complexity region 306 331 N/A INTRINSIC
low complexity region 347 354 N/A INTRINSIC
low complexity region 399 409 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T C 10: 50,732,473 I1477T probably damaging Het
Baat A G 4: 49,490,391 I231T possibly damaging Het
Cactin T C 10: 81,324,350 S426P possibly damaging Het
Cfh A T 1: 140,183,261 F6I probably benign Het
Clec4a2 C T 6: 123,139,078 probably benign Het
Col12a1 A G 9: 79,703,847 S148P probably damaging Het
Cubn G T 2: 13,478,093 Q281K possibly damaging Het
Cyp2c65 T A 19: 39,093,510 probably benign Het
Epha8 C T 4: 136,936,083 G518D probably damaging Het
Fmo3 G A 1: 162,958,261 R387C probably damaging Het
Foxo6 T C 4: 120,269,152 T149A probably benign Het
Fthl17d T C X: 8,986,588 E3G probably benign Het
Gm10521 A G 1: 171,896,443 Y107C unknown Het
Ipo8 T A 6: 148,777,376 E908V probably benign Het
Kcnd2 T C 6: 21,217,217 S307P probably damaging Het
Klf3 A G 5: 64,816,780 M3V possibly damaging Het
Ldb3 T A 14: 34,544,200 E417D probably damaging Het
Lrch1 A T 14: 74,757,063 D673E probably benign Het
Map3k4 T C 17: 12,255,200 K865E probably benign Het
Muc4 G A 16: 32,768,730 V754I possibly damaging Het
Nek4 A G 14: 30,970,262 N223D probably benign Het
Nell2 G A 15: 95,296,179 T551M probably damaging Het
Nup155 T A 15: 8,153,679 M1241K probably damaging Het
Olfr152 T C 2: 87,783,376 F279L probably benign Het
Olfr331 A T 11: 58,502,194 S121T possibly damaging Het
Orc1 T C 4: 108,588,787 probably benign Het
Pclo T C 5: 14,714,329 I4272T unknown Het
Ppp1r12c A G 7: 4,497,345 probably benign Het
Prcp A G 7: 92,910,208 E160G probably benign Het
Prl3d3 G A 13: 27,159,107 R92Q possibly damaging Het
Prl6a1 T A 13: 27,316,364 M106K possibly damaging Het
Slc22a1 T A 17: 12,650,862 probably benign Het
Slco3a1 A G 7: 74,284,547 Y626H probably damaging Het
Smtn A G 11: 3,526,326 probably null Het
Snx30 T C 4: 59,886,404 probably benign Het
Spock2 A G 10: 60,131,387 D393G unknown Het
Trem3 T G 17: 48,249,801 L100R probably damaging Het
Trpm2 A T 10: 77,945,825 probably benign Het
Ubr1 T C 2: 120,914,905 M901V probably benign Het
Usp28 T A 9: 49,037,213 S873T probably damaging Het
Vmn1r86 T C 7: 13,102,929 I7V probably benign Het
Xirp2 T C 2: 67,508,615 L400P probably damaging Het
Other mutations in Dennd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Dennd4b APN 3 90271207 missense possibly damaging 0.83
IGL00834:Dennd4b APN 3 90279686 critical splice donor site probably null
IGL01792:Dennd4b APN 3 90279845 missense probably damaging 0.96
IGL01895:Dennd4b APN 3 90275567 missense probably benign 0.00
IGL02533:Dennd4b APN 3 90272310 missense probably benign 0.02
IGL02630:Dennd4b APN 3 90272977 missense probably benign 0.00
R0107:Dennd4b UTSW 3 90272736 missense possibly damaging 0.92
R0143:Dennd4b UTSW 3 90272364 missense probably damaging 1.00
R1079:Dennd4b UTSW 3 90271178 missense probably benign
R1306:Dennd4b UTSW 3 90271165 missense probably benign 0.00
R1525:Dennd4b UTSW 3 90270870 missense probably damaging 0.97
R1756:Dennd4b UTSW 3 90271605 missense probably damaging 1.00
R1959:Dennd4b UTSW 3 90268773 missense probably damaging 1.00
R1976:Dennd4b UTSW 3 90273055 missense probably damaging 1.00
R2184:Dennd4b UTSW 3 90275540 missense probably damaging 1.00
R2296:Dennd4b UTSW 3 90275514 missense probably damaging 1.00
R2406:Dennd4b UTSW 3 90275488 missense probably damaging 1.00
R2408:Dennd4b UTSW 3 90271575 nonsense probably null
R4691:Dennd4b UTSW 3 90272312 missense probably damaging 1.00
R5376:Dennd4b UTSW 3 90278056 missense probably benign 0.00
R5466:Dennd4b UTSW 3 90268500 splice site probably null
R5555:Dennd4b UTSW 3 90268368 missense probably damaging 1.00
R5556:Dennd4b UTSW 3 90268368 missense probably damaging 1.00
R5557:Dennd4b UTSW 3 90268368 missense probably damaging 1.00
R5605:Dennd4b UTSW 3 90268368 missense probably damaging 1.00
R5617:Dennd4b UTSW 3 90275626 missense probably benign
R5692:Dennd4b UTSW 3 90277783 missense probably damaging 1.00
R5790:Dennd4b UTSW 3 90277450 missense probably damaging 1.00
R5957:Dennd4b UTSW 3 90270965 missense probably damaging 1.00
R6130:Dennd4b UTSW 3 90276259 missense probably damaging 1.00
R6183:Dennd4b UTSW 3 90275568 utr 3 prime probably benign
R6505:Dennd4b UTSW 3 90267611 missense probably damaging 1.00
R6631:Dennd4b UTSW 3 90277732 splice site probably null
R6801:Dennd4b UTSW 3 90268779 missense probably damaging 0.98
R7409:Dennd4b UTSW 3 90273952 missense probably benign 0.15
R7457:Dennd4b UTSW 3 90269315 missense probably benign
X0024:Dennd4b UTSW 3 90270971 missense possibly damaging 0.78
Posted On2013-06-21