Incidental Mutation 'R8422:Dab2ip'
ID |
653235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2ip
|
Ensembl Gene |
ENSMUSG00000026883 |
Gene Name |
disabled 2 interacting protein |
Synonyms |
2310011D08Rik, AIP1 |
MMRRC Submission |
067817-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.321)
|
Stock # |
R8422 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35597767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 157
(I157N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088532
(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: I92N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068832 Gene: ENSMUSG00000026883 AA Change: I92N
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: I157N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088532 Gene: ENSMUSG00000026883 AA Change: I157N
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 |
possibly damaging
Transcript: ENSMUST00000112981
AA Change: I64N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108605 Gene: ENSMUSG00000026883 AA Change: I64N
Domain | Start | End | E-Value | Type |
Blast:PH
|
2 |
80 |
6e-35 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112983
AA Change: I33N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108607 Gene: ENSMUSG00000026883 AA Change: I33N
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: I129N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108610 Gene: ENSMUSG00000026883 AA Change: I129N
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: I100N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108611 Gene: ENSMUSG00000026883 AA Change: I100N
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: I157N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108616 Gene: ENSMUSG00000026883 AA Change: I157N
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: ENSMUST00000124098
AA Change: I50N
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119058 Gene: ENSMUSG00000026883 AA Change: I50N
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 |
probably damaging
Transcript: ENSMUST00000135741
AA Change: I100N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122341 Gene: ENSMUSG00000026883 AA Change: I100N
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 |
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,384,254 (GRCm39) |
S570R |
possibly damaging |
Het |
4921517D22Rik |
T |
C |
13: 59,839,443 (GRCm39) |
M1V |
probably null |
Het |
4921524J17Rik |
T |
G |
8: 86,138,918 (GRCm39) |
K57T |
possibly damaging |
Het |
4930596D02Rik |
G |
T |
14: 35,532,009 (GRCm39) |
Q189K |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,517,757 (GRCm39) |
T296A |
probably benign |
Het |
Aqp7 |
T |
A |
4: 41,035,622 (GRCm39) |
M78L |
probably benign |
Het |
C1qtnf5 |
C |
A |
9: 44,019,961 (GRCm39) |
A195E |
possibly damaging |
Het |
Calhm2 |
T |
C |
19: 47,121,579 (GRCm39) |
I197V |
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,801,617 (GRCm39) |
L167F |
probably benign |
Het |
Ccr3 |
T |
C |
9: 123,828,799 (GRCm39) |
Y45H |
probably damaging |
Het |
Cct3 |
G |
C |
3: 88,208,126 (GRCm39) |
R38P |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,239 (GRCm39) |
D711G |
probably benign |
Het |
Dchs2 |
T |
C |
3: 83,232,570 (GRCm39) |
V2185A |
probably benign |
Het |
Dis3l2 |
A |
G |
1: 86,782,099 (GRCm39) |
T219A |
probably benign |
Het |
F2rl3 |
G |
T |
8: 73,489,813 (GRCm39) |
V347L |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,532,778 (GRCm39) |
S530P |
probably damaging |
Het |
Fgfr3 |
T |
A |
5: 33,892,249 (GRCm39) |
Y689* |
probably null |
Het |
Gm10521 |
A |
G |
1: 171,724,026 (GRCm39) |
I112M |
unknown |
Het |
Gm9736 |
C |
A |
10: 77,586,714 (GRCm39) |
V159F |
unknown |
Het |
Hba-x |
A |
T |
11: 32,227,736 (GRCm39) |
H88L |
probably benign |
Het |
Il12rb2 |
A |
T |
6: 67,337,800 (GRCm39) |
V27E |
probably benign |
Het |
Imp4 |
G |
T |
1: 34,482,997 (GRCm39) |
G196V |
probably damaging |
Het |
Itga11 |
A |
C |
9: 62,674,960 (GRCm39) |
I831L |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,303,279 (GRCm39) |
V408I |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,649,964 (GRCm39) |
D771E |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,795,547 (GRCm39) |
Y413C |
probably benign |
Het |
Npas3 |
C |
A |
12: 54,115,292 (GRCm39) |
T738K |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,133,715 (GRCm39) |
D498V |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,734,083 (GRCm39) |
T317A |
probably benign |
Het |
Or10g7 |
T |
C |
9: 39,905,850 (GRCm39) |
L248P |
probably damaging |
Het |
Or14a256 |
T |
A |
7: 86,265,466 (GRCm39) |
H129L |
probably benign |
Het |
Or4c107 |
T |
C |
2: 88,789,341 (GRCm39) |
M177T |
probably benign |
Het |
Or5d47 |
T |
A |
2: 87,804,143 (GRCm39) |
I289L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,637,849 (GRCm39) |
D125V |
probably damaging |
Het |
Phc3 |
G |
A |
3: 30,984,039 (GRCm39) |
Q692* |
probably null |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,077,042 (GRCm39) |
H339Q |
probably benign |
Het |
Ppp1r3a |
G |
A |
6: 14,718,434 (GRCm39) |
Q827* |
probably null |
Het |
Ptpra |
T |
A |
2: 130,374,091 (GRCm39) |
I265N |
possibly damaging |
Het |
Rabggta |
G |
T |
14: 55,955,915 (GRCm39) |
H447Q |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,062,442 (GRCm39) |
D277G |
possibly damaging |
Het |
Riok3 |
A |
T |
18: 12,269,869 (GRCm39) |
E100V |
probably null |
Het |
Rtcb |
C |
T |
10: 85,779,168 (GRCm39) |
V362M |
probably benign |
Het |
Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,053,508 (GRCm39) |
E131G |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,726,014 (GRCm39) |
M393V |
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,290 (GRCm39) |
I279N |
probably damaging |
Het |
Tbx3 |
G |
T |
5: 119,818,581 (GRCm39) |
K405N |
possibly damaging |
Het |
Thumpd2 |
A |
T |
17: 81,334,373 (GRCm39) |
V405D |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,510,427 (GRCm39) |
S608P |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,131,219 (GRCm39) |
K165E |
probably benign |
Het |
Zfp810 |
C |
A |
9: 22,194,518 (GRCm39) |
E57* |
probably null |
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 |
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 |
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'- TGGACACCTGTTTGATGCAG -3'
(R):5'- ACTAGGCTCATTCCTCTACCAGAG -3'
Sequencing Primer
(F):5'- TGATGCAGGTATTCTCAGGCCC -3'
(R):5'- CCCCCAAAGTATAATTATTGGGAGTG -3'
|
Posted On |
2020-10-20 |