Incidental Mutation 'R4829:Dab2'
| ID |
372702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2
|
| Ensembl Gene |
ENSMUSG00000022150 |
| Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
| Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
| MMRRC Submission |
042445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R4829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6454162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000160134]
[ENSMUST00000161040]
[ENSMUST00000162094]
[ENSMUST00000161812]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078019
AA Change: D224G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
AA Change: D224G
| 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 |
possibly damaging
Transcript: ENSMUST00000080880
AA Change: D224G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: D224G
| 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 damaging
Transcript: ENSMUST00000110663
AA Change: D224G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
AA Change: D224G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160134
AA Change: D224G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: D224G
| 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: D224G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
AA Change: D224G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
| 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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.1570 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
98% (109/111) |
| 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 |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,780 (GRCm39) |
V1323A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,773,214 (GRCm39) |
L814P |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,502,756 (GRCm39) |
G191V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,190,500 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,224,277 (GRCm39) |
D1184E |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,601,147 (GRCm39) |
L283P |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,070,272 (GRCm39) |
|
probably null |
Het |
| Arid4b |
T |
A |
13: 14,359,023 (GRCm39) |
D599E |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,057 (GRCm39) |
K353R |
possibly damaging |
Het |
| Axdnd1 |
G |
T |
1: 156,204,216 (GRCm39) |
R547S |
possibly damaging |
Het |
| Bcat1 |
A |
T |
6: 144,961,201 (GRCm39) |
F134Y |
probably damaging |
Het |
| Camk2d |
C |
A |
3: 126,573,646 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
G |
7: 29,400,550 (GRCm39) |
K268T |
probably damaging |
Het |
| Ccar1 |
A |
C |
10: 62,581,114 (GRCm39) |
F1103L |
unknown |
Het |
| Ccdc141 |
T |
A |
2: 76,905,260 (GRCm39) |
E395D |
probably damaging |
Het |
| Cdc37l1 |
A |
G |
19: 28,967,983 (GRCm39) |
T16A |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,202 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,420,952 (GRCm39) |
I159V |
probably damaging |
Het |
| Cntn5 |
T |
G |
9: 9,976,288 (GRCm39) |
K219Q |
probably damaging |
Het |
| Col23a1 |
C |
A |
11: 51,448,413 (GRCm39) |
A202E |
unknown |
Het |
| Csmd1 |
G |
A |
8: 16,177,310 (GRCm39) |
L1318F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,895 (GRCm39) |
A16V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,504,696 (GRCm39) |
I1942V |
probably benign |
Het |
| Ddr1 |
A |
T |
17: 35,996,005 (GRCm39) |
C625S |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,338 (GRCm39) |
V788A |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,660,617 (GRCm39) |
E402G |
possibly damaging |
Het |
| Dhcr7 |
T |
G |
7: 143,391,654 (GRCm39) |
I81S |
probably damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,489,199 (GRCm39) |
T3467I |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,312,020 (GRCm39) |
E235G |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,662 (GRCm39) |
M548L |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,489 (GRCm39) |
Y97H |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,176,994 (GRCm39) |
S481T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,056,407 (GRCm39) |
V22E |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,736 (GRCm39) |
S55P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,240 (GRCm39) |
D760G |
probably benign |
Het |
| Hpn |
A |
G |
7: 30,798,300 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,372,266 (GRCm39) |
V73A |
probably damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,788 (GRCm39) |
Y80C |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,346 (GRCm39) |
K57R |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,762,037 (GRCm39) |
I569T |
probably damaging |
Het |
| Klra3 |
T |
G |
6: 130,300,579 (GRCm39) |
K263N |
probably benign |
Het |
| Lrcol1 |
C |
A |
5: 110,502,393 (GRCm39) |
H90N |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,368 (GRCm39) |
E921G |
possibly damaging |
Het |
| Mark1 |
G |
A |
1: 184,637,724 (GRCm39) |
R622W |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,065,343 (GRCm39) |
S696P |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,370,729 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtnr1a |
T |
C |
8: 45,538,652 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,043,689 (GRCm39) |
I226T |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,257,147 (GRCm39) |
P799T |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,010 (GRCm39) |
|
probably null |
Het |
| Nxph3 |
T |
C |
11: 95,402,321 (GRCm39) |
E31G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,945,072 (GRCm39) |
I4649V |
probably null |
Het |
| Or10d4b |
A |
T |
9: 39,534,734 (GRCm39) |
H103L |
probably damaging |
Het |
| Or8b12b |
G |
T |
9: 37,684,243 (GRCm39) |
C96F |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,663 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8h10 |
G |
A |
2: 86,808,918 (GRCm39) |
S74L |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,818,601 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,797 (GRCm39) |
|
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,097,224 (GRCm39) |
S792P |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,129,240 (GRCm39) |
L76M |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,709 (GRCm39) |
S205T |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,519,939 (GRCm39) |
D1126N |
possibly damaging |
Het |
| Prrt4 |
G |
A |
6: 29,177,181 (GRCm39) |
S196L |
probably benign |
Het |
| Ptpn21 |
A |
C |
12: 98,655,555 (GRCm39) |
S471A |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,456,480 (GRCm39) |
S9* |
probably null |
Het |
| Rassf4 |
A |
T |
6: 116,622,103 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rgs22 |
C |
A |
15: 36,104,034 (GRCm39) |
R142S |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,345,726 (GRCm39) |
L73F |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,831,607 (GRCm39) |
S187A |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,956,583 (GRCm39) |
Y83* |
probably null |
Het |
| Scn5a |
C |
T |
9: 119,363,773 (GRCm39) |
V456M |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,382,057 (GRCm39) |
H290L |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,623 (GRCm39) |
I452T |
probably damaging |
Het |
| Smc2 |
T |
A |
4: 52,449,612 (GRCm39) |
I198K |
probably damaging |
Het |
| Smim14 |
G |
A |
5: 65,617,946 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,938,936 (GRCm39) |
N339K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,065,493 (GRCm39) |
E2014G |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,941,747 (GRCm39) |
|
probably null |
Het |
| Sypl1 |
C |
T |
12: 33,017,645 (GRCm39) |
T121M |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,331 (GRCm39) |
F138I |
probably benign |
Het |
| Tcstv4 |
G |
A |
13: 120,769,926 (GRCm39) |
C82Y |
possibly damaging |
Het |
| Tet2 |
A |
C |
3: 133,182,381 (GRCm39) |
C1194W |
possibly damaging |
Het |
| Tex29 |
T |
C |
8: 11,905,668 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
T |
A |
7: 143,197,067 (GRCm39) |
T91S |
possibly damaging |
Het |
| Tnik |
A |
T |
3: 28,593,690 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,685,974 (GRCm39) |
I402F |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,994,293 (GRCm39) |
S475C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,539,205 (GRCm39) |
E1937D |
probably benign |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,927 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,229 (GRCm39) |
V742I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,635 (GRCm39) |
L3P |
possibly damaging |
Het |
| Zfp882 |
T |
G |
8: 72,668,233 (GRCm39) |
H353Q |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACAAGCCTACACTGAC -3'
(R):5'- GGTTCCTATGGCCACTTAAGATTC -3'
Sequencing Primer
(F):5'- GCAGCCTGATATCAAATCTGTATG -3'
(R):5'- ATGCTCAAGCTCTCTGGT -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation