Incidental Mutation 'IGL00799:Dab2ip'
ID |
10050 |
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 # |
IGL00799
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35597787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 99
(I99V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068832
(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: I99V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000068832 Gene: ENSMUSG00000026883 AA Change: I99V
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 |
probably benign
Transcript: ENSMUST00000091010
AA Change: I164V
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000088532 Gene: ENSMUSG00000026883 AA Change: I164V
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 |
unknown
Transcript: ENSMUST00000112981
AA Change: I71V
|
SMART Domains |
Protein: ENSMUSP00000108605 Gene: ENSMUSG00000026883 AA Change: I71V
Domain | Start | End | E-Value | Type |
Blast:PH
|
2 |
80 |
6e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112983
AA Change: I40V
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000108607 Gene: ENSMUSG00000026883 AA Change: I40V
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: I136V
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108610 Gene: ENSMUSG00000026883 AA Change: I136V
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: I107V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000108611 Gene: ENSMUSG00000026883 AA Change: I107V
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
AA Change: I164V
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000108616 Gene: ENSMUSG00000026883 AA Change: I164V
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
AA Change: I107V
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122341 Gene: ENSMUSG00000026883 AA Change: I107V
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: I57V
|
SMART Domains |
Protein: ENSMUSP00000119058 Gene: ENSMUSG00000026883 AA Change: I57V
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: 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 |
|
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 |
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
A |
T |
4: 144,281,843 (GRCm39) |
H316Q |
probably benign |
Het |
Boc |
G |
T |
16: 44,313,318 (GRCm39) |
D515E |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,934,678 (GRCm39) |
|
probably null |
Het |
Ctcf |
A |
G |
8: 106,403,968 (GRCm39) |
D608G |
unknown |
Het |
Ecpas |
T |
A |
4: 58,828,047 (GRCm39) |
I981F |
possibly damaging |
Het |
Ehd2 |
C |
T |
7: 15,697,392 (GRCm39) |
A139T |
possibly damaging |
Het |
Fam151b |
C |
A |
13: 92,614,361 (GRCm39) |
K42N |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,589,872 (GRCm39) |
D1002E |
probably benign |
Het |
Gusb |
T |
C |
5: 130,028,222 (GRCm39) |
Y290C |
probably damaging |
Het |
Hoxd10 |
A |
G |
2: 74,522,786 (GRCm39) |
S155G |
probably benign |
Het |
Hp |
A |
G |
8: 110,302,250 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
C |
6: 115,854,497 (GRCm39) |
S112P |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,794,452 (GRCm39) |
|
probably benign |
Het |
Mtbp |
T |
A |
15: 55,480,904 (GRCm39) |
L290* |
probably null |
Het |
Nr5a2 |
T |
A |
1: 136,818,536 (GRCm39) |
D330V |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,102,700 (GRCm39) |
L157Q |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,839,521 (GRCm39) |
D116E |
possibly damaging |
Het |
Slc23a3 |
A |
T |
1: 75,109,925 (GRCm39) |
I114N |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,347,878 (GRCm38) |
I1140L |
probably benign |
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 |
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 |
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 |
2012-12-06 |