Incidental Mutation 'R8691:Dennd1b'
ID 668350
Institutional Source Beutler Lab
Gene Symbol Dennd1b
Ensembl Gene ENSMUSG00000056268
Gene Name DENN domain containing 1B
Synonyms F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik
MMRRC Submission 068545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8691 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 138891447-139103781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138969774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 97 (I97F)
Ref Sequence ENSEMBL: ENSMUSP00000142738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000198759] [ENSMUST00000200429] [ENSMUST00000200533]
AlphaFold Q3U1T9
Predicted Effect
SMART Domains Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: I22F

DomainStartEndE-ValueType
DENN 15 196 1.14e-74 SMART
dDENN 227 293 1.07e-20 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: I97F

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 possibly damaging
Transcript: ENSMUST00000200429
AA Change: I97F

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268
AA Change: I97F

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 possibly damaging
Transcript: ENSMUST00000200533
AA Change: I97F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142738
Gene: ENSMUSG00000056268
AA Change: I97F

DomainStartEndE-ValueType
uDENN 9 89 7.86e-28 SMART
DENN 90 232 4.61e-6 SMART
Meta Mutation Damage Score 0.1137 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik G T 5: 30,310,287 (GRCm39) A24E unknown Het
Acap1 A G 11: 69,781,003 (GRCm39) L117P probably damaging Het
Actl6b G A 5: 137,565,585 (GRCm39) G394S probably damaging Het
Actr3b G T 5: 26,030,202 (GRCm39) V177F possibly damaging Het
Adamts6 A G 13: 104,450,839 (GRCm39) T341A probably benign Het
Agbl4 G T 4: 111,520,156 (GRCm39) V474F probably benign Het
Atosa A T 9: 74,917,335 (GRCm39) T652S probably benign Het
Bach1 T C 16: 87,516,517 (GRCm39) S353P probably benign Het
C1qtnf9 G A 14: 61,017,141 (GRCm39) D224N probably damaging Het
Camkmt A T 17: 85,421,260 (GRCm39) N121Y probably damaging Het
Card6 A T 15: 5,129,078 (GRCm39) Y773N possibly damaging Het
Cbfa2t2 C A 2: 154,342,403 (GRCm39) P40T possibly damaging Het
Colec10 A C 15: 54,298,420 (GRCm39) E60D probably benign Het
Cspg4 T C 9: 56,800,280 (GRCm39) V1647A probably benign Het
Cyp2d34 A G 15: 82,502,471 (GRCm39) F222L probably benign Het
Deptor A C 15: 55,083,596 (GRCm39) D388A possibly damaging Het
Dhx40 T C 11: 86,690,419 (GRCm39) K201E possibly damaging Het
Dnah6 G A 6: 73,145,850 (GRCm39) R854C probably damaging Het
Dock9 T C 14: 121,877,517 (GRCm39) I409V possibly damaging Het
Eif1ad16 T G 12: 87,985,278 (GRCm39) K88N probably damaging Het
Esp31 G T 17: 38,955,592 (GRCm39) L78F possibly damaging Het
Fam98c A T 7: 28,852,889 (GRCm39) V48E probably damaging Het
Fcgbpl1 A T 7: 27,853,264 (GRCm39) E1517V possibly damaging Het
Fgfr1 A T 8: 26,052,253 (GRCm39) D193V possibly damaging Het
Furin C T 7: 80,041,775 (GRCm39) probably benign Het
Gm17078 A T 14: 51,848,693 (GRCm39) F15I probably damaging Het
Grid2 G T 6: 63,480,321 (GRCm39) R45L probably damaging Het
Hecw2 A G 1: 53,904,223 (GRCm39) V1175A probably benign Het
Hspa1b T C 17: 35,176,072 (GRCm39) I638V possibly damaging Het
Ighv6-7 A G 12: 114,419,304 (GRCm39) V100A probably benign Het
Itch G T 2: 155,052,478 (GRCm39) E693* probably null Het
Ivl G A 3: 92,478,823 (GRCm39) S414L unknown Het
Kif5b T A 18: 6,225,787 (GRCm39) N160I probably benign Het
Klhl5 A G 5: 65,306,881 (GRCm39) probably benign Het
Lpin1 C T 12: 16,623,660 (GRCm39) probably benign Het
Malsu1 C A 6: 49,052,171 (GRCm39) H130Q probably benign Het
Naip2 A C 13: 100,297,676 (GRCm39) L787V probably damaging Het
Nynrin C T 14: 56,110,106 (GRCm39) R1738W probably damaging Het
Or11g27 A G 14: 50,770,910 (GRCm39) T14A probably benign Het
Or4e1 A T 14: 52,701,358 (GRCm39) I36N possibly damaging Het
Or51d1 C T 7: 102,347,777 (GRCm39) Q111* probably null Het
Or7e176 T A 9: 20,171,747 (GRCm39) S204T probably benign Het
Pclo A G 5: 14,571,706 (GRCm39) T364A unknown Het
Phlda2 A C 7: 143,056,206 (GRCm39) S8A probably benign Het
Pou3f1 G A 4: 124,551,549 (GRCm39) G17E unknown Het
Ppfibp2 A G 7: 107,346,785 (GRCm39) D899G probably damaging Het
Pskh1 T C 8: 106,639,833 (GRCm39) V171A probably damaging Het
Rictor A G 15: 6,816,513 (GRCm39) T1262A probably damaging Het
Rnf41 T C 10: 128,274,077 (GRCm39) V243A probably benign Het
Slc9c1 T A 16: 45,427,182 (GRCm39) N1162K probably benign Het
Spef2 A T 15: 9,602,005 (GRCm39) L1419* probably null Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tnc A G 4: 63,880,313 (GRCm39) C1954R probably damaging Het
Ttll11 T A 2: 35,674,161 (GRCm39) I622F probably damaging Het
Utp25 T C 1: 192,796,110 (GRCm39) E673G probably benign Het
Vmn2r104 A G 17: 20,262,110 (GRCm39) I340T probably damaging Het
Vmn2r110 G T 17: 20,803,404 (GRCm39) D390E 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
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
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
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'- ACCCAGTATTAGAAAGGTGAAGCC -3'
(R):5'- TGGTACAGAAGGGAGACTATTTCTAAC -3'

Sequencing Primer
(F):5'- GTGAAGCCAATGACAAGTAAGTCTTC -3'
(R):5'- CCTTCCTTGGATTTAGACTGAACAAG -3'
Posted On 2021-04-30