Incidental Mutation 'IGL00902:Dab2ip'
| ID |
26832 |
| 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: 0.380)
|
| Stock # |
IGL00902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35607124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 523
(F523S)
|
| 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 damaging
Transcript: ENSMUST00000065001
AA Change: F515S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: F515S
| 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 damaging
Transcript: ENSMUST00000091010
AA Change: F580S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: F580S
| 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 |
probably damaging
Transcript: ENSMUST00000112983
AA Change: F456S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: F456S
| 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 damaging
Transcript: ENSMUST00000112986
AA Change: F552S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: F552S
| 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 damaging
Transcript: ENSMUST00000112987
AA Change: F523S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: F523S
| 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 damaging
Transcript: ENSMUST00000112992
AA Change: F580S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: F580S
| 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 damaging
Transcript: ENSMUST00000135741
AA Change: F523S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: F523S
| 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: F473S
|
| SMART Domains |
Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: F473S
| 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 |
unknown
Transcript: ENSMUST00000156669
AA Change: F205S
|
| SMART Domains |
Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: F205S
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
| Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
| Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
| Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
| Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
| Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
| Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
| Ndufs7 |
T |
G |
10: 80,091,839 (GRCm39) |
Y190* |
probably null |
Het |
| Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,055,258 (GRCm39) |
T481A |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
| Smg5 |
G |
A |
3: 88,260,392 (GRCm39) |
V661I |
probably benign |
Het |
| Snx19 |
A |
T |
9: 30,340,028 (GRCm39) |
I389F |
possibly damaging |
Het |
| Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,316,161 (GRCm39) |
D32G |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
| Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
possibly 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 |
|
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 |
2013-04-17 |
Incidental Mutation