Incidental Mutation 'R8171:Dab2'
| ID |
634151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2
|
| Ensembl Gene |
ENSMUSG00000022150 |
| Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
| Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
| MMRRC Submission |
067597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R8171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6453407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 182
(V182I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000160134]
[ENSMUST00000161040]
[ENSMUST00000161812]
[ENSMUST00000162094]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078019
AA Change: V182I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
AA Change: V182I
| 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
AA Change: V182I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: V182I
| 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
AA Change: V182I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
AA Change: V182I
| 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
AA Change: V182I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: V182I
| 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: ENSMUST00000160134
AA Change: V182I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: V182I
| 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: ENSMUST00000161040
AA Change: V182I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
AA Change: V182I
| 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
AA Change: V182I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150
AA Change: V182I
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: V70I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,982 (GRCm39) |
A661E |
probably benign |
Het |
| Abhd14a |
T |
A |
9: 106,317,960 (GRCm39) |
T142S |
probably benign |
Het |
| Actn1 |
A |
G |
12: 80,243,167 (GRCm39) |
|
probably null |
Het |
| Adss2 |
T |
C |
1: 177,623,917 (GRCm39) |
N15S |
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,439,054 (GRCm39) |
S780P |
probably benign |
Het |
| Asap1 |
G |
T |
15: 63,982,815 (GRCm39) |
L830M |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,609,032 (GRCm39) |
V319A |
possibly damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,283,493 (GRCm39) |
I87N |
probably damaging |
Het |
| Bace2 |
G |
T |
16: 97,225,786 (GRCm39) |
V407L |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,029,862 (GRCm39) |
V2423A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,020,528 (GRCm39) |
Y317F |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,845,007 (GRCm39) |
E291G |
possibly damaging |
Het |
| Cct8l1 |
T |
A |
5: 25,721,552 (GRCm39) |
L89Q |
probably damaging |
Het |
| Cep83 |
T |
A |
10: 94,604,797 (GRCm39) |
N503K |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,873,839 (GRCm39) |
Y436C |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,258,287 (GRCm39) |
D579E |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,752,015 (GRCm39) |
V1751D |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,732,974 (GRCm39) |
T937S |
possibly damaging |
Het |
| Clock |
T |
A |
5: 76,414,261 (GRCm39) |
D17V |
possibly damaging |
Het |
| Cpm |
T |
C |
10: 117,519,220 (GRCm39) |
L376P |
probably damaging |
Het |
| Crocc2 |
T |
C |
1: 93,116,723 (GRCm39) |
|
probably null |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,636 (GRCm39) |
D401G |
probably damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,924,863 (GRCm39) |
L206F |
possibly damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,479 (GRCm39) |
W36R |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,022,584 (GRCm39) |
H30L |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,019,067 (GRCm39) |
F1342L |
probably damaging |
Het |
| Draxin |
A |
T |
4: 148,200,123 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,112 (GRCm39) |
V39M |
probably damaging |
Het |
| Erlin1 |
A |
G |
19: 44,057,768 (GRCm39) |
I19T |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,150 (GRCm39) |
S78T |
possibly damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,151 (GRCm39) |
V258A |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,949,822 (GRCm39) |
D445G |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,910,194 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
A |
8: 81,341,869 (GRCm39) |
D1387E |
probably damaging |
Het |
| Gdf3 |
T |
C |
6: 122,586,862 (GRCm39) |
T22A |
probably benign |
Het |
| Glcci1 |
C |
T |
6: 8,593,167 (GRCm39) |
A511V |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,111,161 (GRCm39) |
N538K |
probably benign |
Het |
| Glipr1l1 |
C |
T |
10: 111,914,289 (GRCm39) |
P217S |
probably benign |
Het |
| Gpr161 |
A |
G |
1: 165,134,005 (GRCm39) |
N89S |
probably damaging |
Het |
| Gypa |
T |
A |
8: 81,236,092 (GRCm39) |
S166T |
probably benign |
Het |
| Hcar1 |
A |
G |
5: 124,017,152 (GRCm39) |
S180P |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 117,739,270 (GRCm39) |
S11P |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,456,819 (GRCm39) |
E728G |
possibly damaging |
Het |
| Ints14 |
A |
T |
9: 64,880,532 (GRCm39) |
H213L |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,659,047 (GRCm39) |
M323K |
possibly damaging |
Het |
| Ivl |
A |
G |
3: 92,479,085 (GRCm39) |
S327P |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,437,203 (GRCm39) |
N545K |
probably benign |
Het |
| Kdm4b |
A |
T |
17: 56,696,534 (GRCm39) |
R417W |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,932,444 (GRCm39) |
E1083G |
probably damaging |
Het |
| Klhl40 |
A |
T |
9: 121,607,623 (GRCm39) |
H261L |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,066,573 (GRCm39) |
|
probably null |
Het |
| Lamc3 |
C |
A |
2: 31,804,983 (GRCm39) |
T621N |
probably benign |
Het |
| Lingo3 |
T |
C |
10: 80,670,595 (GRCm39) |
H445R |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,144,572 (GRCm39) |
T1297I |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,759 (GRCm39) |
T149M |
possibly damaging |
Het |
| Mcrs1 |
A |
T |
15: 99,146,613 (GRCm39) |
D139E |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,414,737 (GRCm39) |
S2561N |
unknown |
Het |
| Mybpc1 |
C |
T |
10: 88,358,865 (GRCm39) |
G1095R |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,093,398 (GRCm39) |
Y163C |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,801,483 (GRCm39) |
C1110* |
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,291 (GRCm39) |
V284E |
probably benign |
Het |
| Or12j2 |
A |
T |
7: 139,916,143 (GRCm39) |
I123F |
probably damaging |
Het |
| Or2ag1 |
C |
T |
7: 106,313,825 (GRCm39) |
S21N |
probably benign |
Het |
| Or2ag1 |
T |
A |
7: 106,313,826 (GRCm39) |
S21C |
|
Het |
| Or4c10b |
A |
G |
2: 89,711,409 (GRCm39) |
I80V |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,238,210 (GRCm39) |
C10* |
probably null |
Het |
| Pdlim5 |
A |
T |
3: 142,017,948 (GRCm39) |
S107T |
probably benign |
Het |
| Plac8l1 |
T |
A |
18: 42,313,445 (GRCm39) |
D99V |
probably damaging |
Het |
| Plin2 |
A |
T |
4: 86,575,349 (GRCm39) |
V400E |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,102 (GRCm39) |
P176S |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,117,223 (GRCm39) |
K238R |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,933 (GRCm39) |
E231G |
probably benign |
Het |
| Ppara |
A |
T |
15: 85,682,077 (GRCm39) |
M258L |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,097,882 (GRCm39) |
D1129N |
probably damaging |
Het |
| Rai14 |
G |
A |
15: 10,633,249 (GRCm39) |
T47M |
probably damaging |
Het |
| Rdh5 |
T |
C |
10: 128,753,969 (GRCm39) |
I117V |
probably benign |
Het |
| Rpain |
G |
A |
11: 70,864,724 (GRCm39) |
C137Y |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,361,154 (GRCm39) |
V126A |
possibly damaging |
Het |
| Senp7 |
G |
T |
16: 55,932,089 (GRCm39) |
L129F |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,390,399 (GRCm39) |
D1025G |
unknown |
Het |
| Sirt4 |
A |
T |
5: 115,621,082 (GRCm39) |
V30E |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,715,512 (GRCm39) |
R113L |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,028,416 (GRCm39) |
T549I |
noncoding transcript |
Het |
| Sytl2 |
A |
G |
7: 90,058,678 (GRCm39) |
M926V |
probably damaging |
Het |
| Tgfbr2 |
C |
T |
9: 115,959,074 (GRCm39) |
W113* |
probably null |
Het |
| Tmem86a |
A |
G |
7: 46,703,512 (GRCm39) |
Y213C |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,154,045 (GRCm39) |
Y220F |
probably damaging |
Het |
| Ttc6 |
C |
A |
12: 57,720,096 (GRCm39) |
A889E |
probably damaging |
Het |
| Tyw1 |
A |
G |
5: 130,328,855 (GRCm39) |
D547G |
probably benign |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,523 (GRCm39) |
K17R |
probably benign |
Het |
| Usp46 |
T |
A |
5: 74,163,354 (GRCm39) |
I331F |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,792,073 (GRCm39) |
H61R |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,861,706 (GRCm39) |
N715K |
probably benign |
Het |
| Wdr97 |
C |
A |
15: 76,247,819 (GRCm39) |
F1614L |
|
Het |
| Zfp772 |
A |
T |
7: 7,207,096 (GRCm39) |
C198* |
probably null |
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 |
|
IGL03054:Dab2
|
APN |
15 |
6,447,707 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGTTAAAGGACTTGACAGAGC -3'
(R):5'- CCATTGAGCTGTTATGACTTGGTC -3'
Sequencing Primer
(F):5'- TAGTGCTACTCCTACTAGGACAGG -3'
(R):5'- GCAGATAGCAAACATGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation