Incidental Mutation 'IGL03054:Dab2'
| ID |
409184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dab2
|
| Ensembl Gene |
ENSMUSG00000022150 |
| Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
| Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
IGL03054 (G1)
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 6447707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000159046]
[ENSMUST00000159490]
[ENSMUST00000160134]
[ENSMUST00000162094]
[ENSMUST00000161040]
[ENSMUST00000161812]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078019
|
| SMART Domains |
Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
low complexity region
|
270 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
465 |
493 |
2e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080880
|
| SMART Domains |
Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
low complexity region
|
488 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
612 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
683 |
711 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110663
|
| SMART Domains |
Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
low complexity region
|
270 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
465 |
493 |
2e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110664
|
| SMART Domains |
Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
low complexity region
|
467 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
662 |
690 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159490
|
| SMART Domains |
Protein: ENSMUSP00000124145
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:1P3R|C
|
35 |
60 |
4e-11 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160134
|
| SMART Domains |
Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162094
|
| SMART Domains |
Protein: ENSMUSP00000125696
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
Pfam:PID
|
50 |
110 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161040
|
| SMART Domains |
Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161812
|
| SMART Domains |
Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
low complexity region
|
249 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
373 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
444 |
472 |
2e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163082
|
| SMART Domains |
Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
2 |
59 |
1e-33 |
BLAST |
|
PDB:1P3R|C
|
2 |
59 |
2e-34 |
PDB |
|
SCOP:d1ddma_
|
3 |
59 |
9e-12 |
SMART |
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
PDB:3H8D|H
|
551 |
579 |
3e-12 |
PDB |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants exhibit abnormal primitive endoderm structure and/or function, lack a proamniotic cavity and die prior to embryonic day 9.5. A conditional mutant survives, but shows kidney proximal tubule abnormality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,162,963 (GRCm39) |
L345P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
| Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
| Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
| Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,822,848 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
| Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,231,291 (GRCm39) |
G183D |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
| Tnfrsf22 |
A |
G |
7: 143,194,532 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,578,287 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
G |
T |
18: 63,958,192 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Dab2
|
APN |
15 |
6,459,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00731:Dab2
|
APN |
15 |
6,465,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02382:Dab2
|
APN |
15 |
6,466,468 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02598:Dab2
|
APN |
15 |
6,458,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03093:Dab2
|
APN |
15 |
6,465,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Dab2
|
APN |
15 |
6,464,790 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03372:Dab2
|
APN |
15 |
6,459,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0157:Dab2
|
UTSW |
15 |
6,459,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0326:Dab2
|
UTSW |
15 |
6,447,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Dab2
|
UTSW |
15 |
6,454,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Dab2
|
UTSW |
15 |
6,464,895 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0938:Dab2
|
UTSW |
15 |
6,464,865 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1433:Dab2
|
UTSW |
15 |
6,459,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Dab2
|
UTSW |
15 |
6,459,351 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1713:Dab2
|
UTSW |
15 |
6,459,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1757:Dab2
|
UTSW |
15 |
6,359,933 (GRCm39) |
intron |
probably benign |
|
|
R1800:Dab2
|
UTSW |
15 |
6,464,948 (GRCm39) |
missense |
probably benign |
|
|
R1837:Dab2
|
UTSW |
15 |
6,365,957 (GRCm39) |
intron |
probably benign |
|
|
R1999:Dab2
|
UTSW |
15 |
6,446,398 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2050:Dab2
|
UTSW |
15 |
6,464,696 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2117:Dab2
|
UTSW |
15 |
6,465,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Dab2
|
UTSW |
15 |
6,365,864 (GRCm39) |
nonsense |
probably null |
|
|
R2150:Dab2
|
UTSW |
15 |
6,446,398 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2329:Dab2
|
UTSW |
15 |
6,459,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2338:Dab2
|
UTSW |
15 |
6,464,733 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2680:Dab2
|
UTSW |
15 |
6,466,474 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3978:Dab2
|
UTSW |
15 |
6,464,644 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3979:Dab2
|
UTSW |
15 |
6,464,644 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3980:Dab2
|
UTSW |
15 |
6,464,644 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4551:Dab2
|
UTSW |
15 |
6,464,775 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4795:Dab2
|
UTSW |
15 |
6,459,092 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4829:Dab2
|
UTSW |
15 |
6,454,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Dab2
|
UTSW |
15 |
6,457,008 (GRCm39) |
missense |
probably benign |
|
|
R4832:Dab2
|
UTSW |
15 |
6,366,080 (GRCm39) |
splice site |
probably null |
|
|
R5168:Dab2
|
UTSW |
15 |
6,365,924 (GRCm39) |
intron |
probably benign |
|
|
R5620:Dab2
|
UTSW |
15 |
6,447,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5996:Dab2
|
UTSW |
15 |
6,464,792 (GRCm39) |
nonsense |
probably null |
|
|
R6159:Dab2
|
UTSW |
15 |
6,465,941 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6998:Dab2
|
UTSW |
15 |
6,454,130 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7002:Dab2
|
UTSW |
15 |
6,464,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7040:Dab2
|
UTSW |
15 |
6,451,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Dab2
|
UTSW |
15 |
6,458,780 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7448:Dab2
|
UTSW |
15 |
6,451,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Dab2
|
UTSW |
15 |
6,459,399 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8062:Dab2
|
UTSW |
15 |
6,456,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8124:Dab2
|
UTSW |
15 |
6,458,878 (GRCm39) |
nonsense |
probably null |
|
|
R8164:Dab2
|
UTSW |
15 |
6,460,449 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8171:Dab2
|
UTSW |
15 |
6,453,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8230:Dab2
|
UTSW |
15 |
6,451,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Dab2
|
UTSW |
15 |
6,446,406 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8427:Dab2
|
UTSW |
15 |
6,458,840 (GRCm39) |
nonsense |
probably null |
|
|
R8919:Dab2
|
UTSW |
15 |
6,465,271 (GRCm39) |
missense |
|
|
|
R9363:Dab2
|
UTSW |
15 |
6,460,481 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9461:Dab2
|
UTSW |
15 |
6,460,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9532:Dab2
|
UTSW |
15 |
6,451,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Dab2
|
UTSW |
15 |
6,460,525 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation