Incidental Mutation 'IGL00937:Dennd1b'
ID 26660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd1b
Ensembl Gene ENSMUSG00000056268
Gene Name DENN domain containing 1B
Synonyms F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00937
Quality Score
Status
Chromosome 1
Chromosomal Location 138891447-139103781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139097977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 673 (C673S)
Ref Sequence ENSEMBL: ENSMUSP00000092082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000200429]
AlphaFold Q3U1T9
Predicted Effect probably benign
Transcript: ENSMUST00000094505
AA Change: C673S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: C673S

DomainStartEndE-ValueType
DENN 15 196 1.14e-74 SMART
dDENN 227 293 1.07e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168527
AA Change: C748S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: C748S

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: ENSMUST00000199634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200295
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
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,845,464 (GRCm39) probably null Het
Cd34 A G 1: 194,642,422 (GRCm39) E381G probably damaging Het
Chka A G 19: 3,942,189 (GRCm39) E381G probably benign Het
E130308A19Rik G A 4: 59,690,846 (GRCm39) A227T probably benign Het
F13b T A 1: 139,445,098 (GRCm39) probably benign Het
Hipk3 T C 2: 104,263,517 (GRCm39) N933D possibly damaging Het
Mmp27 T C 9: 7,578,900 (GRCm39) probably benign Het
Nod1 C T 6: 54,914,349 (GRCm39) V815I probably benign Het
Or2a5 T A 6: 42,873,568 (GRCm39) F61Y probably damaging Het
Or2ag15 T A 7: 106,340,364 (GRCm39) Y259F probably damaging Het
Or3a1d C T 11: 74,238,255 (GRCm39) V52I probably benign Het
Or51ab3 C A 7: 103,201,064 (GRCm39) A24E probably damaging Het
Or51h1 T A 7: 102,308,555 (GRCm39) S176T probably damaging Het
Or52k2 T A 7: 102,253,564 (GRCm39) M1K probably null Het
Pms1 T A 1: 53,314,410 (GRCm39) E45V possibly damaging Het
Prkcsh T C 9: 21,917,861 (GRCm39) S126P possibly damaging Het
Pros1 A T 16: 62,730,408 (GRCm39) L299F probably damaging Het
Scrn1 A G 6: 54,497,718 (GRCm39) I291T probably benign Het
Slc15a2 A T 16: 36,572,242 (GRCm39) Y676* probably null Het
Tenm2 A C 11: 35,915,450 (GRCm39) V2028G probably damaging Het
Trpa1 T C 1: 14,950,501 (GRCm39) 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
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
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
Posted On 2013-04-17