Incidental Mutation 'IGL00929:Dab2ip'
| ID |
26904 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dab2ip
|
| Ensembl Gene |
ENSMUSG00000026883 |
| Gene Name |
disabled 2 interacting protein |
| Synonyms |
2310011D08Rik, AIP1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
IGL00929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35598889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 137
(M137L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065001]
[ENSMUST00000091010]
[ENSMUST00000112983]
[ENSMUST00000112986]
[ENSMUST00000112987]
[ENSMUST00000112992]
[ENSMUST00000135741]
[ENSMUST00000145698]
|
| AlphaFold |
Q3UHC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065001
AA Change: M129L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: M129L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
10 |
139 |
3.63e-2 |
SMART |
|
C2
|
149 |
245 |
1.34e-7 |
SMART |
|
RasGAP
|
255 |
592 |
1.08e-126 |
SMART |
|
low complexity region
|
604 |
616 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
629 |
694 |
4e-29 |
BLAST |
|
low complexity region
|
733 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
873 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1095 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091010
AA Change: M194L
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: M194L
| 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: ENSMUST00000112981
|
| SMART Domains |
Protein: ENSMUSP00000108605
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
80 |
6e-35 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112983
AA Change: M70L
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: M70L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
C2
|
90 |
186 |
1.34e-7 |
SMART |
|
RasGAP
|
196 |
533 |
1.08e-126 |
SMART |
|
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
570 |
635 |
3e-29 |
BLAST |
|
low complexity region
|
674 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
814 |
N/A |
INTRINSIC |
|
coiled coil region
|
902 |
1036 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112986
AA Change: M166L
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: M166L
| 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
AA Change: M137L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: M137L
| 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 |
possibly damaging
Transcript: ENSMUST00000112992
AA Change: M194L
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: M194L
| 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 |
possibly damaging
Transcript: ENSMUST00000135741
AA Change: M137L
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: M137L
| 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 |
unknown
Transcript: ENSMUST00000124098
AA Change: M87L
|
| SMART Domains |
Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: M87L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
C2
|
108 |
204 |
1.34e-7 |
SMART |
|
RasGAP
|
214 |
551 |
1.08e-126 |
SMART |
|
low complexity region
|
563 |
575 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
588 |
653 |
3e-29 |
BLAST |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
919 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156465
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156669
|
| SMART Domains |
Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
1 |
283 |
1.97e-88 |
SMART |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
Pfam:DUF3498
|
317 |
594 |
2.9e-78 |
PFAM |
|
Pfam:DUF3498
|
591 |
712 |
4.2e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
A |
T |
12: 30,954,899 (GRCm39) |
H67Q |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,363,578 (GRCm39) |
S247P |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,656 (GRCm39) |
G275E |
probably benign |
Het |
| Arhgef15 |
A |
T |
11: 68,844,928 (GRCm39) |
L223Q |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,427 (GRCm39) |
Y209C |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,257 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
A |
1: 115,988,004 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,159,648 (GRCm39) |
M1V |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lemd1 |
A |
G |
1: 132,184,447 (GRCm39) |
D73G |
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,623,700 (GRCm39) |
S228L |
probably benign |
Het |
| Mtcl3 |
C |
A |
10: 29,024,288 (GRCm39) |
N401K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,946 (GRCm39) |
L48P |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,893,529 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,694 (GRCm39) |
N372K |
probably benign |
Het |
| Ndufa2 |
A |
G |
18: 36,877,228 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
A |
T |
11: 102,950,902 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
A |
T |
7: 102,861,892 (GRCm39) |
H264L |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,758 (GRCm39) |
Y489H |
probably damaging |
Het |
| Rttn |
A |
T |
18: 89,047,059 (GRCm39) |
K907M |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,716,025 (GRCm39) |
Y979C |
probably damaging |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,233 (GRCm39) |
I266N |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,637 (GRCm39) |
L1600P |
probably benign |
Het |
| Tiam1 |
T |
A |
16: 89,591,627 (GRCm39) |
I1358F |
probably damaging |
Het |
| Usp37 |
G |
T |
1: 74,529,313 (GRCm39) |
T122N |
probably benign |
Het |
| Vit |
T |
C |
17: 78,886,830 (GRCm39) |
S153P |
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 |
|
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 |
|
R8127:Dab2ip
|
UTSW |
2 |
35,534,138 (GRCm39) |
critical splice donor site |
probably benign |
|
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation