Incidental Mutation 'R5555:Dennd4b'
ID 435322
Institutional Source Beutler Lab
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene Name DENN domain containing 4B
Synonyms
MMRRC Submission 043112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5555 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90172492-90187976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90175675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 148 (R148Q)
Ref Sequence ENSEMBL: ENSMUSP00000117354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000098914] [ENSMUST00000129564] [ENSMUST00000184882]
AlphaFold Q3U1Y4
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 damaging
Transcript: ENSMUST00000098914
AA Change: R159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: R159Q

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 probably damaging
Transcript: ENSMUST00000129564
AA Change: R148Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: R148Q

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: ENSMUST00000156358
AA Change: R139Q
SMART Domains Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
AA Change: R139Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000151648
SMART Domains Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404

DomainStartEndE-ValueType
uDENN 2 57 3.71e-6 SMART
Pfam:DENN 91 157 2.9e-13 PFAM
Meta Mutation Damage Score 0.1589 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg7 T C 6: 114,679,014 (GRCm39) V366A probably damaging Het
Cadm2 A T 16: 66,581,702 (GRCm39) V192E probably damaging Het
Chil6 C T 3: 106,297,268 (GRCm39) S291N possibly damaging Het
D7Ertd443e T C 7: 133,951,320 (GRCm39) T118A probably benign Het
Dnah1 T A 14: 31,012,776 (GRCm39) T1837S probably damaging Het
Elapor2 T A 5: 9,472,296 (GRCm39) probably null Het
Ext1 A G 15: 52,951,539 (GRCm39) V515A probably damaging Het
Fer1l4 T C 2: 155,890,109 (GRCm39) E272G probably damaging Het
Fras1 T A 5: 96,825,236 (GRCm39) H1475Q probably benign Het
Grid1 T C 14: 35,242,662 (GRCm39) S672P possibly damaging Het
Gtpbp4 A G 13: 9,029,463 (GRCm39) probably null Het
Hsp90aa1 A T 12: 110,659,168 (GRCm39) V543E probably damaging Het
Irf5 T C 6: 29,531,145 (GRCm39) S4P probably benign Het
Kif2b G T 11: 91,466,286 (GRCm39) Q666K probably benign Het
Macc1 A T 12: 119,414,110 (GRCm39) H762L probably benign Het
Map1s C T 8: 71,369,751 (GRCm39) T941M probably damaging Het
Mrgprb1 T A 7: 48,097,523 (GRCm39) I130F probably benign Het
Nbeal1 T G 1: 60,276,311 (GRCm39) V684G possibly damaging Het
Ngly1 C T 14: 16,270,508 (GRCm38) Q173* probably null Het
Plcb3 A T 19: 6,943,587 (GRCm39) M104K probably benign Het
Plcg2 T A 8: 118,339,734 (GRCm39) Y1048* probably null Het
Ptprf T C 4: 118,082,121 (GRCm39) Y1039C probably damaging Het
Rab38 A G 7: 88,079,695 (GRCm39) Y29C probably damaging Het
Rcan2 T A 17: 44,347,921 (GRCm39) V210E probably damaging Het
Rptn A T 3: 93,304,008 (GRCm39) Q447L probably benign Het
Scel G A 14: 103,839,642 (GRCm39) R495K probably benign Het
Scn11a G T 9: 119,584,304 (GRCm39) P1437Q probably damaging Het
Sim2 A G 16: 93,910,315 (GRCm39) D239G probably damaging Het
Skap2 A G 6: 51,836,998 (GRCm39) Y356H probably damaging Het
Skint11 A G 4: 114,051,798 (GRCm39) T49A probably benign Het
Snx33 G A 9: 56,832,681 (GRCm39) H463Y probably benign Het
Steap2 T C 5: 5,727,544 (GRCm39) T264A possibly damaging Het
Stk40 T A 4: 126,028,852 (GRCm39) V238E probably damaging Het
Sun2 T C 15: 79,618,328 (GRCm39) D277G probably benign Het
Ttll9 T C 2: 152,832,020 (GRCm39) probably null Het
Vmn1r54 G A 6: 90,246,347 (GRCm39) C87Y probably benign Het
Other mutations in Dennd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Dennd4b APN 3 90,178,514 (GRCm39) missense possibly damaging 0.83
IGL00834:Dennd4b APN 3 90,186,993 (GRCm39) critical splice donor site probably null
IGL01124:Dennd4b APN 3 90,176,381 (GRCm39) missense possibly damaging 0.61
IGL01792:Dennd4b APN 3 90,187,152 (GRCm39) missense probably damaging 0.96
IGL01895:Dennd4b APN 3 90,182,874 (GRCm39) missense probably benign 0.00
IGL02533:Dennd4b APN 3 90,179,617 (GRCm39) missense probably benign 0.02
IGL02630:Dennd4b APN 3 90,180,284 (GRCm39) missense probably benign 0.00
R0107:Dennd4b UTSW 3 90,180,043 (GRCm39) missense possibly damaging 0.92
R0143:Dennd4b UTSW 3 90,179,671 (GRCm39) missense probably damaging 1.00
R1079:Dennd4b UTSW 3 90,178,485 (GRCm39) missense probably benign
R1306:Dennd4b UTSW 3 90,178,472 (GRCm39) missense probably benign 0.00
R1525:Dennd4b UTSW 3 90,178,177 (GRCm39) missense probably damaging 0.97
R1756:Dennd4b UTSW 3 90,178,912 (GRCm39) missense probably damaging 1.00
R1959:Dennd4b UTSW 3 90,176,080 (GRCm39) missense probably damaging 1.00
R1976:Dennd4b UTSW 3 90,180,362 (GRCm39) missense probably damaging 1.00
R2184:Dennd4b UTSW 3 90,182,847 (GRCm39) missense probably damaging 1.00
R2296:Dennd4b UTSW 3 90,182,821 (GRCm39) missense probably damaging 1.00
R2406:Dennd4b UTSW 3 90,182,795 (GRCm39) missense probably damaging 1.00
R2408:Dennd4b UTSW 3 90,178,882 (GRCm39) nonsense probably null
R4691:Dennd4b UTSW 3 90,179,619 (GRCm39) missense probably damaging 1.00
R5376:Dennd4b UTSW 3 90,185,363 (GRCm39) missense probably benign 0.00
R5466:Dennd4b UTSW 3 90,175,807 (GRCm39) splice site probably null
R5556:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5557:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5605:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5617:Dennd4b UTSW 3 90,182,933 (GRCm39) missense probably benign
R5692:Dennd4b UTSW 3 90,185,090 (GRCm39) missense probably damaging 1.00
R5790:Dennd4b UTSW 3 90,184,757 (GRCm39) missense probably damaging 1.00
R5957:Dennd4b UTSW 3 90,178,272 (GRCm39) missense probably damaging 1.00
R6130:Dennd4b UTSW 3 90,183,566 (GRCm39) missense probably damaging 1.00
R6183:Dennd4b UTSW 3 90,182,875 (GRCm39) utr 3 prime probably benign
R6505:Dennd4b UTSW 3 90,174,918 (GRCm39) missense probably damaging 1.00
R6631:Dennd4b UTSW 3 90,185,039 (GRCm39) splice site probably null
R6801:Dennd4b UTSW 3 90,176,086 (GRCm39) missense probably damaging 0.98
R7409:Dennd4b UTSW 3 90,181,259 (GRCm39) missense probably benign 0.15
R7457:Dennd4b UTSW 3 90,176,622 (GRCm39) missense probably benign
R7650:Dennd4b UTSW 3 90,176,056 (GRCm39) nonsense probably null
R8196:Dennd4b UTSW 3 90,178,904 (GRCm39) missense probably damaging 1.00
R8208:Dennd4b UTSW 3 90,178,278 (GRCm39) missense possibly damaging 0.78
R8444:Dennd4b UTSW 3 90,181,259 (GRCm39) missense probably benign 0.27
R8502:Dennd4b UTSW 3 90,181,165 (GRCm39) missense probably damaging 0.98
R8735:Dennd4b UTSW 3 90,185,172 (GRCm39) missense probably damaging 1.00
R8933:Dennd4b UTSW 3 90,186,523 (GRCm39) missense probably benign 0.05
R9031:Dennd4b UTSW 3 90,178,188 (GRCm39) missense probably benign
R9335:Dennd4b UTSW 3 90,175,611 (GRCm39) missense probably damaging 1.00
R9456:Dennd4b UTSW 3 90,178,515 (GRCm39) missense probably damaging 1.00
R9747:Dennd4b UTSW 3 90,177,828 (GRCm39) missense possibly damaging 0.76
X0024:Dennd4b UTSW 3 90,178,278 (GRCm39) missense possibly damaging 0.78
Z1176:Dennd4b UTSW 3 90,186,802 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCAGGTAGGAAGATCCAGC -3'
(R):5'- AAATACCCTTTGTGCCGCCC -3'

Sequencing Primer
(F):5'- AGCAGGATCCAAGACTCTTTCTATC -3'
(R):5'- ATACCCTTACACTAGTTCTTCAGG -3'
Posted On 2016-10-24