Incidental Mutation 'IGL01288:Dennd2b'
| ID |
72831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd2b
|
| Ensembl Gene |
ENSMUSG00000031024 |
| Gene Name |
DENN domain containing 2B |
| Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
IGL01288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109139029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 668
(I668T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
|
| AlphaFold |
Q924W7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077909
AA Change: I668T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: I668T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
|
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
|
DENN
|
788 |
972 |
7.84e-78 |
SMART |
|
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
|
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079282
AA Change: I668T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: I668T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
|
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
|
DENN
|
788 |
972 |
7.84e-78 |
SMART |
|
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
|
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084738
AA Change: I251T
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: I251T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
|
DENN
|
371 |
555 |
7.84e-78 |
SMART |
|
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
|
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168005
AA Change: I251T
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: I251T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
|
DENN
|
371 |
555 |
7.84e-78 |
SMART |
|
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
|
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
G |
T |
8: 123,507,381 (GRCm39) |
|
probably benign |
Het |
| Acsl3 |
G |
T |
1: 78,677,476 (GRCm39) |
W490L |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,858 (GRCm39) |
I381V |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,333,566 (GRCm39) |
Y261C |
probably damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,293,931 (GRCm39) |
T40A |
probably benign |
Het |
| Arfgef1 |
C |
T |
1: 10,283,436 (GRCm39) |
A158T |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,085,474 (GRCm39) |
E43G |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,936,205 (GRCm39) |
T584I |
probably benign |
Het |
| Cpa1 |
G |
A |
6: 30,640,582 (GRCm39) |
V75M |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,968,733 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,536,181 (GRCm39) |
I93T |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,696,604 (GRCm39) |
Y218C |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,032,865 (GRCm39) |
Y164C |
probably damaging |
Het |
| Etos1 |
C |
A |
7: 130,373,935 (GRCm39) |
|
probably benign |
Het |
| Fam13a |
A |
G |
6: 58,933,712 (GRCm39) |
Y293H |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,290,863 (GRCm39) |
V154D |
possibly damaging |
Het |
| Glyat |
A |
G |
19: 12,627,719 (GRCm39) |
T105A |
possibly damaging |
Het |
| Il36b |
A |
T |
2: 24,049,925 (GRCm39) |
I179L |
probably benign |
Het |
| Kif21b |
C |
T |
1: 136,099,922 (GRCm39) |
T1492M |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,762,925 (GRCm39) |
P282T |
probably damaging |
Het |
| Lgi4 |
A |
G |
7: 30,768,468 (GRCm39) |
E489G |
probably benign |
Het |
| Lipn |
A |
C |
19: 34,056,435 (GRCm39) |
E260D |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,730,864 (GRCm39) |
D2911G |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,500,978 (GRCm39) |
R38Q |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,798,139 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4c1 |
A |
T |
2: 89,133,816 (GRCm39) |
V40E |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,858 (GRCm39) |
T244A |
probably damaging |
Het |
| Or5t16 |
C |
A |
2: 86,818,598 (GRCm39) |
M307I |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,528 (GRCm39) |
L165P |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,395,167 (GRCm39) |
S337P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,330,921 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,022,543 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Plek2 |
T |
C |
12: 78,941,727 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,028 (GRCm39) |
R351H |
probably damaging |
Het |
| Shld2 |
A |
T |
14: 33,981,600 (GRCm39) |
Y513N |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,381,332 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,329,200 (GRCm39) |
|
probably null |
Het |
| Stradb |
C |
A |
1: 59,031,460 (GRCm39) |
H216N |
possibly damaging |
Het |
| Tex15 |
C |
T |
8: 34,061,412 (GRCm39) |
H281Y |
probably benign |
Het |
| Tg |
G |
T |
15: 66,608,125 (GRCm39) |
V237L |
possibly damaging |
Het |
| Tns1 |
T |
A |
1: 73,992,969 (GRCm39) |
T570S |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,049,857 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
A |
G |
9: 52,028,951 (GRCm39) |
|
probably benign |
Het |
| Zmynd8 |
T |
A |
2: 165,654,734 (GRCm39) |
S584C |
probably damaging |
Het |
|
| Other mutations in Dennd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Dennd2b
|
APN |
7 |
109,126,915 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01132:Dennd2b
|
APN |
7 |
109,169,212 (GRCm39) |
splice site |
probably null |
|
|
IGL01645:Dennd2b
|
APN |
7 |
109,126,841 (GRCm39) |
nonsense |
probably null |
|
|
IGL01714:Dennd2b
|
APN |
7 |
109,169,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02021:Dennd2b
|
APN |
7 |
109,156,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Dennd2b
|
APN |
7 |
109,124,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Dennd2b
|
APN |
7 |
109,155,442 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02795:Dennd2b
|
APN |
7 |
109,155,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bucolic
|
UTSW |
7 |
109,124,755 (GRCm39) |
nonsense |
probably null |
|
|
Halcyon
|
UTSW |
7 |
109,156,000 (GRCm39) |
nonsense |
probably null |
|
|
FR4340:Dennd2b
|
UTSW |
7 |
109,156,128 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Dennd2b
|
UTSW |
7 |
109,156,128 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4466001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Dennd2b
|
UTSW |
7 |
109,123,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Dennd2b
|
UTSW |
7 |
109,141,718 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0125:Dennd2b
|
UTSW |
7 |
109,155,545 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0365:Dennd2b
|
UTSW |
7 |
109,138,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Dennd2b
|
UTSW |
7 |
109,156,411 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0534:Dennd2b
|
UTSW |
7 |
109,140,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Dennd2b
|
UTSW |
7 |
109,156,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Dennd2b
|
UTSW |
7 |
109,156,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0772:Dennd2b
|
UTSW |
7 |
109,141,527 (GRCm39) |
splice site |
probably null |
|
|
R0774:Dennd2b
|
UTSW |
7 |
109,141,527 (GRCm39) |
splice site |
probably null |
|
|
R0787:Dennd2b
|
UTSW |
7 |
109,124,827 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0884:Dennd2b
|
UTSW |
7 |
109,156,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Dennd2b
|
UTSW |
7 |
109,156,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Dennd2b
|
UTSW |
7 |
109,124,533 (GRCm39) |
nonsense |
probably null |
|
|
R1909:Dennd2b
|
UTSW |
7 |
109,124,533 (GRCm39) |
nonsense |
probably null |
|
|
R2232:Dennd2b
|
UTSW |
7 |
109,156,414 (GRCm39) |
missense |
probably benign |
|
|
R2358:Dennd2b
|
UTSW |
7 |
109,155,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2847:Dennd2b
|
UTSW |
7 |
109,124,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2869:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2871:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2871:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2873:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2874:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4534:Dennd2b
|
UTSW |
7 |
109,130,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4536:Dennd2b
|
UTSW |
7 |
109,130,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Dennd2b
|
UTSW |
7 |
109,124,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Dennd2b
|
UTSW |
7 |
109,156,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4846:Dennd2b
|
UTSW |
7 |
109,156,043 (GRCm39) |
nonsense |
probably null |
|
|
R5110:Dennd2b
|
UTSW |
7 |
109,141,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5181:Dennd2b
|
UTSW |
7 |
109,155,997 (GRCm39) |
missense |
probably benign |
|
|
R5268:Dennd2b
|
UTSW |
7 |
109,156,519 (GRCm39) |
missense |
probably benign |
|
|
R5403:Dennd2b
|
UTSW |
7 |
109,156,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Dennd2b
|
UTSW |
7 |
109,140,552 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5932:Dennd2b
|
UTSW |
7 |
109,169,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:Dennd2b
|
UTSW |
7 |
109,156,478 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6180:Dennd2b
|
UTSW |
7 |
109,156,095 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6741:Dennd2b
|
UTSW |
7 |
109,144,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6781:Dennd2b
|
UTSW |
7 |
109,124,511 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7086:Dennd2b
|
UTSW |
7 |
109,124,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Dennd2b
|
UTSW |
7 |
109,124,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Dennd2b
|
UTSW |
7 |
109,156,000 (GRCm39) |
nonsense |
probably null |
|
|
R8354:Dennd2b
|
UTSW |
7 |
109,124,755 (GRCm39) |
nonsense |
probably null |
|
|
R8745:Dennd2b
|
UTSW |
7 |
109,156,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8859:Dennd2b
|
UTSW |
7 |
109,123,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Dennd2b
|
UTSW |
7 |
109,139,642 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9178:Dennd2b
|
UTSW |
7 |
109,156,291 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9361:Dennd2b
|
UTSW |
7 |
109,126,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Dennd2b
|
UTSW |
7 |
109,125,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Dennd2b
|
UTSW |
7 |
109,155,973 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF062:Dennd2b
|
UTSW |
7 |
109,156,153 (GRCm39) |
unclassified |
probably benign |
|
|
X0067:Dennd2b
|
UTSW |
7 |
109,155,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation