Incidental Mutation 'R4805:Dennd1b'
ID 370598
Institutional Source Beutler Lab
Gene Symbol Dennd1b
Ensembl Gene ENSMUSG00000056268
Gene Name DENN domain containing 1B
Synonyms F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 138891447-139103781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138981122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 112 (N112I)
Ref Sequence ENSEMBL: ENSMUSP00000142738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000198759] [ENSMUST00000200429] [ENSMUST00000200533]
AlphaFold Q3U1T9
Predicted Effect probably damaging
Transcript: ENSMUST00000094505
AA Change: N37I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: N37I

DomainStartEndE-ValueType
DENN 15 196 1.14e-74 SMART
dDENN 227 293 1.07e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168527
AA Change: N112I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: N112I

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 noncoding transcript
Transcript: ENSMUST00000196816
Predicted Effect probably benign
Transcript: ENSMUST00000198759
Predicted Effect probably damaging
Transcript: ENSMUST00000200429
AA Change: N112I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268
AA Change: N112I

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 damaging
Transcript: ENSMUST00000200533
AA Change: N112I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142738
Gene: ENSMUSG00000056268
AA Change: N112I

DomainStartEndE-ValueType
uDENN 9 89 7.86e-28 SMART
DENN 90 232 4.61e-6 SMART
Meta Mutation Damage Score 0.6154 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly damaging 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
R3109:Dennd1b UTSW 1 138,969,654 (GRCm39) splice site probably benign
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
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'- AAAACCTGGCTGTAGTTCTTTTC -3'
(R):5'- ATGTCATGGTAGTTGAGAGGGGA -3'

Sequencing Primer
(F):5'- CTTTTCTGTTATCAGGATCAACCAG -3'
(R):5'- CATGGTAGTTGAGAGGGGAGAGAAG -3'
Posted On 2016-02-04