Incidental Mutation 'R8127:Dab2ip'
| ID |
651982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2ip
|
| Ensembl Gene |
ENSMUSG00000026883 |
| Gene Name |
disabled 2 interacting protein |
| Synonyms |
2310011D08Rik, AIP1 |
| MMRRC Submission |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R8127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
T to C
at 35534138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091010]
[ENSMUST00000112986]
[ENSMUST00000112987]
[ENSMUST00000112992]
[ENSMUST00000135741]
[ENSMUST00000145698]
|
| AlphaFold |
Q3UHC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091010
|
| SMART Domains |
Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
39 |
N/A |
INTRINSIC |
|
PH
|
73 |
204 |
5.58e-3 |
SMART |
|
C2
|
214 |
310 |
1.34e-7 |
SMART |
|
RasGAP
|
320 |
657 |
1.08e-126 |
SMART |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
694 |
759 |
4e-29 |
BLAST |
|
low complexity region
|
798 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
938 |
N/A |
INTRINSIC |
|
coiled coil region
|
1026 |
1160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112986
|
| SMART Domains |
Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
45 |
176 |
5.58e-3 |
SMART |
|
C2
|
186 |
282 |
1.34e-7 |
SMART |
|
RasGAP
|
292 |
629 |
1.08e-126 |
SMART |
|
low complexity region
|
641 |
653 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
666 |
731 |
4e-29 |
BLAST |
|
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
910 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112987
|
| SMART Domains |
Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
147 |
5.58e-3 |
SMART |
|
C2
|
157 |
253 |
1.34e-7 |
SMART |
|
RasGAP
|
263 |
600 |
1.08e-126 |
SMART |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
637 |
702 |
4e-29 |
BLAST |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112992
|
| SMART Domains |
Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
39 |
N/A |
INTRINSIC |
|
PH
|
73 |
204 |
5.58e-3 |
SMART |
|
C2
|
214 |
310 |
1.34e-7 |
SMART |
|
RasGAP
|
320 |
657 |
1.08e-126 |
SMART |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
694 |
759 |
4e-29 |
BLAST |
|
low complexity region
|
798 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
938 |
N/A |
INTRINSIC |
|
Pfam:DUF3498
|
986 |
1108 |
3.3e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135741
|
| SMART Domains |
Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
147 |
5.58e-3 |
SMART |
|
C2
|
157 |
253 |
1.34e-7 |
SMART |
|
RasGAP
|
263 |
600 |
1.08e-126 |
SMART |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
637 |
702 |
4e-29 |
BLAST |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
969 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145698
|
| SMART Domains |
Protein: ENSMUSP00000114915
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
3e-18 |
BLAST |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
135 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses. Mice homozygous for a gene trap allele exhibit delayed Purkinje cell dendritogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,249 (GRCm39) |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,367,638 (GRCm39) |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,348,214 (GRCm39) |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,474,547 (GRCm39) |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,127,876 (GRCm39) |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,359,067 (GRCm39) |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,396 (GRCm39) |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,701 (GRCm39) |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,598,009 (GRCm39) |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,122 (GRCm39) |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,627,481 (GRCm39) |
I95K |
unknown |
Het |
| Dnaaf6rt |
T |
C |
1: 31,262,201 (GRCm39) |
F61S |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,244,345 (GRCm39) |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,217,310 (GRCm39) |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,330,736 (GRCm39) |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,290,902 (GRCm39) |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,684,999 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,487 (GRCm39) |
R434S |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,630,334 (GRCm39) |
P66S |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,031 (GRCm39) |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,052,567 (GRCm39) |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,042,834 (GRCm39) |
C1033S |
probably damaging |
Het |
| Or6k4 |
C |
T |
1: 173,965,155 (GRCm39) |
P282S |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,731,613 (GRCm39) |
F176Y |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,515,653 (GRCm39) |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,910 (GRCm39) |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,005,093 (GRCm39) |
Q1406K |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,423,747 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,633,578 (GRCm39) |
G385D |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,528,714 (GRCm39) |
S155P |
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,796,970 (GRCm39) |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,691,271 (GRCm39) |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,122,284 (GRCm39) |
I128V |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,024,798 (GRCm39) |
D262G |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,146,262 (GRCm39) |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,239,043 (GRCm39) |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,716,463 (GRCm39) |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,845 (GRCm39) |
I197T |
probably benign |
Het |
| Wdtc1 |
C |
T |
4: 133,029,693 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
G |
T |
7: 6,326,821 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,642,185 (GRCm39) |
I1213F |
probably damaging |
Het |
|
| Other mutations in Dab2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Dab2ip
|
APN |
2 |
35,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00799:Dab2ip
|
APN |
2 |
35,597,787 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00902:Dab2ip
|
APN |
2 |
35,607,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00929:Dab2ip
|
APN |
2 |
35,598,889 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03052:Dab2ip
|
UTSW |
2 |
35,533,909 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0097:Dab2ip
|
UTSW |
2 |
35,608,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0137:Dab2ip
|
UTSW |
2 |
35,582,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0184:Dab2ip
|
UTSW |
2 |
35,608,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Dab2ip
|
UTSW |
2 |
35,608,757 (GRCm39) |
splice site |
probably benign |
|
|
R1195:Dab2ip
|
UTSW |
2 |
35,608,757 (GRCm39) |
splice site |
probably benign |
|
|
R1388:Dab2ip
|
UTSW |
2 |
35,611,268 (GRCm39) |
intron |
probably benign |
|
|
R1442:Dab2ip
|
UTSW |
2 |
35,600,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1496:Dab2ip
|
UTSW |
2 |
35,608,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Dab2ip
|
UTSW |
2 |
35,610,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Dab2ip
|
UTSW |
2 |
35,608,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Dab2ip
|
UTSW |
2 |
35,533,903 (GRCm39) |
nonsense |
probably null |
|
|
R3819:Dab2ip
|
UTSW |
2 |
35,603,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4333:Dab2ip
|
UTSW |
2 |
35,551,632 (GRCm39) |
makesense |
probably null |
|
|
R4869:Dab2ip
|
UTSW |
2 |
35,610,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Dab2ip
|
UTSW |
2 |
35,620,539 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5035:Dab2ip
|
UTSW |
2 |
35,599,953 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5180:Dab2ip
|
UTSW |
2 |
35,610,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5425:Dab2ip
|
UTSW |
2 |
35,600,003 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5513:Dab2ip
|
UTSW |
2 |
35,600,266 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5579:Dab2ip
|
UTSW |
2 |
35,605,339 (GRCm39) |
nonsense |
probably null |
|
|
R5829:Dab2ip
|
UTSW |
2 |
35,597,787 (GRCm39) |
unclassified |
probably benign |
|
|
R5840:Dab2ip
|
UTSW |
2 |
35,617,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5890:Dab2ip
|
UTSW |
2 |
35,605,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Dab2ip
|
UTSW |
2 |
35,582,267 (GRCm39) |
nonsense |
probably null |
|
|
R6235:Dab2ip
|
UTSW |
2 |
35,613,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Dab2ip
|
UTSW |
2 |
35,600,278 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6571:Dab2ip
|
UTSW |
2 |
35,602,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Dab2ip
|
UTSW |
2 |
35,620,485 (GRCm39) |
nonsense |
probably null |
|
|
R7262:Dab2ip
|
UTSW |
2 |
35,512,298 (GRCm39) |
splice site |
probably null |
|
|
R7883:Dab2ip
|
UTSW |
2 |
35,610,218 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8313:Dab2ip
|
UTSW |
2 |
35,617,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Dab2ip
|
UTSW |
2 |
35,609,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8422:Dab2ip
|
UTSW |
2 |
35,597,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8560:Dab2ip
|
UTSW |
2 |
35,603,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Dab2ip
|
UTSW |
2 |
35,602,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Dab2ip
|
UTSW |
2 |
35,613,105 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9353:Dab2ip
|
UTSW |
2 |
35,598,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Dab2ip
|
UTSW |
2 |
35,599,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Dab2ip
|
UTSW |
2 |
35,605,330 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9563:Dab2ip
|
UTSW |
2 |
35,609,915 (GRCm39) |
nonsense |
probably null |
|
|
X0011:Dab2ip
|
UTSW |
2 |
35,613,097 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Dab2ip
|
UTSW |
2 |
35,598,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTTGACAGAGTCGCCCC -3'
(R):5'- ATGACATGCCCTAGACTGTTC -3'
Sequencing Primer
(F):5'- TTCCCGGCAGCATGTCAGAG -3'
(R):5'- CATGCCCTAGACTGTTCTATAAAAG -3'
|
| Posted On |
2020-09-18 |
Incidental Mutation