Incidental Mutation 'R3109:Dennd1b'
ID 263687
Institutional Source Beutler Lab
Gene Symbol Dennd1b
Ensembl Gene ENSMUSG00000056268
Gene Name DENN domain containing 1B
Synonyms F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 138891447-139103781 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 138969654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000198759] [ENSMUST00000200429] [ENSMUST00000200533]
AlphaFold Q3U1T9
Predicted Effect probably benign
Transcript: ENSMUST00000094505
SMART Domains Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268

DomainStartEndE-ValueType
DENN 15 196 1.14e-74 SMART
dDENN 227 293 1.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168527
SMART Domains Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268

DomainStartEndE-ValueType
uDENN 9 89 7.86e-28 SMART
DENN 90 271 1.14e-74 SMART
dDENN 302 368 1.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198759
Predicted Effect probably benign
Transcript: ENSMUST00000200429
SMART Domains Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268

DomainStartEndE-ValueType
uDENN 9 89 3.2e-31 SMART
DENN 90 271 4.8e-78 SMART
low complexity region 307 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200533
SMART Domains Protein: ENSMUSP00000142738
Gene: ENSMUSG00000056268

DomainStartEndE-ValueType
uDENN 9 89 7.86e-28 SMART
DENN 90 232 4.61e-6 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous KO results in enhanced allergic responses to aerosolized antigen challenges caused by delayed TCR down-modulation following receptor activation in T helper 2 cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Dennd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Dennd1b APN 1 138,990,678 (GRCm39) missense probably damaging 1.00
IGL00510:Dennd1b APN 1 139,029,809 (GRCm39) missense probably damaging 1.00
IGL00671:Dennd1b APN 1 139,061,475 (GRCm39) missense possibly damaging 0.94
IGL00937:Dennd1b APN 1 139,097,977 (GRCm39) missense probably benign 0.01
IGL00959:Dennd1b APN 1 139,071,626 (GRCm39) splice site probably benign
IGL01446:Dennd1b APN 1 138,950,848 (GRCm39) missense possibly damaging 0.61
IGL01610:Dennd1b APN 1 139,097,504 (GRCm39) utr 3 prime probably benign
IGL02275:Dennd1b APN 1 139,008,992 (GRCm39) missense probably damaging 1.00
IGL02851:Dennd1b APN 1 139,096,705 (GRCm39) utr 3 prime probably benign
IGL02995:Dennd1b APN 1 139,008,980 (GRCm39) missense probably damaging 1.00
IGL03089:Dennd1b APN 1 139,029,767 (GRCm39) missense possibly damaging 0.94
IGL03240:Dennd1b APN 1 139,067,130 (GRCm39) missense possibly damaging 0.63
IGL03267:Dennd1b APN 1 138,990,599 (GRCm39) nonsense probably null
Dendrite UTSW 1 138,981,155 (GRCm39) critical splice donor site probably null
LCD18:Dennd1b UTSW 1 139,042,502 (GRCm39) intron probably benign
PIT4418001:Dennd1b UTSW 1 139,008,999 (GRCm39) missense
PIT4504001:Dennd1b UTSW 1 138,967,742 (GRCm39) missense probably benign 0.28
R0426:Dennd1b UTSW 1 139,097,934 (GRCm39) missense probably benign
R0445:Dennd1b UTSW 1 139,095,503 (GRCm39) splice site probably benign
R0497:Dennd1b UTSW 1 138,967,724 (GRCm39) splice site probably benign
R0627:Dennd1b UTSW 1 139,008,957 (GRCm39) missense probably damaging 1.00
R1027:Dennd1b UTSW 1 138,969,700 (GRCm39) missense probably damaging 1.00
R1599:Dennd1b UTSW 1 139,095,468 (GRCm39) missense probably benign 0.01
R1703:Dennd1b UTSW 1 139,097,492 (GRCm39) critical splice acceptor site probably null
R1844:Dennd1b UTSW 1 139,018,143 (GRCm39) splice site probably null
R1943:Dennd1b UTSW 1 139,096,690 (GRCm39) utr 3 prime probably benign
R2504:Dennd1b UTSW 1 139,097,908 (GRCm39) utr 3 prime probably benign
R2866:Dennd1b UTSW 1 139,098,019 (GRCm39) missense possibly damaging 0.58
R3843:Dennd1b UTSW 1 138,981,092 (GRCm39) missense probably damaging 1.00
R3926:Dennd1b UTSW 1 139,071,697 (GRCm39) missense probably benign 0.00
R4258:Dennd1b UTSW 1 138,990,678 (GRCm39) missense probably damaging 1.00
R4504:Dennd1b UTSW 1 139,013,665 (GRCm39) missense possibly damaging 0.82
R4805:Dennd1b UTSW 1 138,981,122 (GRCm39) missense probably damaging 1.00
R4922:Dennd1b UTSW 1 139,013,652 (GRCm39) missense probably damaging 0.99
R4954:Dennd1b UTSW 1 138,981,124 (GRCm39) missense probably damaging 1.00
R5098:Dennd1b UTSW 1 139,061,459 (GRCm39) missense probably damaging 0.97
R5205:Dennd1b UTSW 1 138,982,306 (GRCm39) missense probably benign 0.00
R5240:Dennd1b UTSW 1 138,990,615 (GRCm39) missense probably damaging 1.00
R5383:Dennd1b UTSW 1 139,095,409 (GRCm39) missense probably benign
R5504:Dennd1b UTSW 1 139,018,246 (GRCm39) missense probably benign 0.07
R5702:Dennd1b UTSW 1 139,061,413 (GRCm39) missense probably damaging 1.00
R5801:Dennd1b UTSW 1 138,967,727 (GRCm39) splice site probably null
R6144:Dennd1b UTSW 1 139,008,993 (GRCm39) missense probably damaging 1.00
R6190:Dennd1b UTSW 1 139,061,413 (GRCm39) missense probably damaging 1.00
R6192:Dennd1b UTSW 1 139,095,456 (GRCm39) missense probably benign 0.00
R6289:Dennd1b UTSW 1 139,096,683 (GRCm39) utr 3 prime probably benign
R6453:Dennd1b UTSW 1 139,071,686 (GRCm39) missense probably benign 0.07
R6479:Dennd1b UTSW 1 138,969,698 (GRCm39) intron probably benign
R6940:Dennd1b UTSW 1 138,981,155 (GRCm39) critical splice donor site probably null
R6954:Dennd1b UTSW 1 139,096,683 (GRCm39) utr 3 prime probably benign
R7183:Dennd1b UTSW 1 139,097,990 (GRCm39) missense unknown
R7710:Dennd1b UTSW 1 138,990,670 (GRCm39) missense probably damaging 1.00
R7742:Dennd1b UTSW 1 138,990,611 (GRCm39) missense probably damaging 1.00
R7796:Dennd1b UTSW 1 138,990,611 (GRCm39) missense probably damaging 1.00
R7871:Dennd1b UTSW 1 138,990,611 (GRCm39) missense probably damaging 1.00
R7920:Dennd1b UTSW 1 138,990,611 (GRCm39) missense probably damaging 1.00
R7921:Dennd1b UTSW 1 138,990,611 (GRCm39) missense probably damaging 1.00
R7991:Dennd1b UTSW 1 139,013,634 (GRCm39) missense
R8025:Dennd1b UTSW 1 139,038,158 (GRCm39) missense
R8239:Dennd1b UTSW 1 138,969,673 (GRCm39) missense probably benign 0.02
R8526:Dennd1b UTSW 1 138,950,858 (GRCm39) nonsense probably null
R8532:Dennd1b UTSW 1 139,097,912 (GRCm39) utr 3 prime probably benign
R8691:Dennd1b UTSW 1 138,969,774 (GRCm39) missense possibly damaging 0.93
R9229:Dennd1b UTSW 1 138,981,100 (GRCm39) nonsense probably null
R9577:Dennd1b UTSW 1 139,018,196 (GRCm39) missense
RF008:Dennd1b UTSW 1 138,981,135 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGTGCTCTCCCATAAGC -3'
(R):5'- CATGATATAGCTGGACAAAGACAC -3'

Sequencing Primer
(F):5'- GTGCTCTCCCATAAGCTGTTAGAAG -3'
(R):5'- GCTGGACAAAGACACAATCTATTTTG -3'
Posted On 2015-02-05