Incidental Mutation 'R3843:Dennd1b'
| ID |
277228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd1b
|
| Ensembl Gene |
ENSMUSG00000056268 |
| Gene Name |
DENN domain containing 1B |
| Synonyms |
F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
138891447-139103781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 138981092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 102
(P102Q)
|
| 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: P27Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: P27Q
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
15 |
196 |
1.14e-74 |
SMART |
|
dDENN
|
227 |
293 |
1.07e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168527
AA Change: P102Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: P102Q
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
silent
Transcript: ENSMUST00000198759
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200429
AA Change: P102Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268
AA Change: P102Q
| Domain | Start | End | E-Value | Type |
|---|
|
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: P102Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142738
Gene: ENSMUSG00000056268
AA Change: P102Q
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
9 |
89 |
7.86e-28 |
SMART |
|
DENN
|
90 |
232 |
4.61e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly damaging |
Het |
|
| Other mutations in Dennd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- TCAAGCAGTGGTTGAGTTGAG -3'
(R):5'- AGATGTGTCGTATTGGTGGTTAAAA -3'
Sequencing Primer
(F):5'- AAGTCATTTTGAAGAGGCTTTTGATG -3'
(R):5'- GGTGGTTAAAAACAATATGACTGTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation