Incidental Mutation 'R5425:Dab2ip'
ID |
426795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2ip
|
Ensembl Gene |
ENSMUSG00000026883 |
Gene Name |
disabled 2 interacting protein |
Synonyms |
2310011D08Rik, AIP1 |
MMRRC Submission |
042991-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.321)
|
Stock # |
R5425 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 35600003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 206
(H206Q)
|
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: H198Q
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000068832 Gene: ENSMUSG00000026883 AA Change: H198Q
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: H263Q
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088532 Gene: ENSMUSG00000026883 AA Change: H263Q
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 benign
Transcript: ENSMUST00000112983
AA Change: H139Q
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108607 Gene: ENSMUSG00000026883 AA Change: H139Q
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: H235Q
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108610 Gene: ENSMUSG00000026883 AA Change: H235Q
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: H206Q
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108611 Gene: ENSMUSG00000026883 AA Change: H206Q
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: H263Q
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108616 Gene: ENSMUSG00000026883 AA Change: H263Q
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: H206Q
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000122341 Gene: ENSMUSG00000026883 AA Change: H206Q
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: H156Q
|
SMART Domains |
Protein: ENSMUSP00000119058 Gene: ENSMUSG00000026883 AA Change: H156Q
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: ENSMUST00000156465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138957
|
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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 |
Ace |
A |
G |
11: 105,864,254 (GRCm39) |
E465G |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Aida |
T |
A |
1: 183,103,201 (GRCm39) |
C174S |
possibly damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,160,286 (GRCm39) |
R104H |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,104,407 (GRCm39) |
L98P |
probably benign |
Het |
Ankmy1 |
G |
T |
1: 92,798,679 (GRCm39) |
Y20* |
probably null |
Het |
Arhgap9 |
C |
A |
10: 127,162,287 (GRCm39) |
N314K |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,417,119 (GRCm39) |
Y427H |
probably damaging |
Het |
Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
Bola3 |
G |
T |
6: 83,326,534 (GRCm39) |
G18W |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,731,334 (GRCm39) |
T138A |
probably benign |
Het |
Castor1 |
T |
A |
11: 4,171,689 (GRCm39) |
H304Q |
probably damaging |
Het |
Ccnd2 |
A |
G |
6: 127,127,580 (GRCm39) |
Y53H |
probably benign |
Het |
Cd101 |
T |
A |
3: 100,926,002 (GRCm39) |
D239V |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,052,428 (GRCm39) |
Q287L |
probably benign |
Het |
Cfap43 |
C |
T |
19: 47,885,371 (GRCm39) |
A415T |
possibly damaging |
Het |
Cfap74 |
A |
G |
4: 155,540,149 (GRCm39) |
|
probably benign |
Het |
Crnn |
A |
G |
3: 93,056,456 (GRCm39) |
K414R |
probably benign |
Het |
Csf1 |
A |
G |
3: 107,656,212 (GRCm39) |
L273P |
possibly damaging |
Het |
Dipk2a |
T |
C |
9: 94,419,745 (GRCm39) |
S62G |
probably damaging |
Het |
Diras2 |
A |
G |
13: 52,662,083 (GRCm39) |
S75P |
probably damaging |
Het |
Dst |
T |
C |
1: 34,218,831 (GRCm39) |
V1757A |
probably benign |
Het |
Dus4l |
A |
T |
12: 31,690,807 (GRCm39) |
H281Q |
probably damaging |
Het |
Faah |
A |
T |
4: 115,857,993 (GRCm39) |
M436K |
probably null |
Het |
Fat1 |
T |
C |
8: 45,478,922 (GRCm39) |
V2656A |
possibly damaging |
Het |
Ffar1 |
A |
C |
7: 30,560,204 (GRCm39) |
L231R |
probably damaging |
Het |
Gab1 |
T |
C |
8: 81,527,018 (GRCm39) |
K27E |
probably damaging |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
H2-T5 |
A |
C |
17: 36,479,377 (GRCm39) |
L8R |
probably damaging |
Het |
Irx6 |
T |
C |
8: 93,404,145 (GRCm39) |
|
probably null |
Het |
Mcrs1 |
C |
A |
15: 99,141,569 (GRCm39) |
R376L |
probably damaging |
Het |
Mrgprb1 |
T |
A |
7: 48,097,719 (GRCm39) |
L64F |
possibly damaging |
Het |
Nck2 |
T |
G |
1: 43,593,552 (GRCm39) |
V253G |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,566,702 (GRCm39) |
T12M |
possibly damaging |
Het |
Pdpk1 |
A |
T |
17: 24,317,095 (GRCm39) |
L256Q |
probably damaging |
Het |
Perm1 |
A |
G |
4: 156,302,752 (GRCm39) |
D432G |
probably benign |
Het |
Psg25 |
A |
T |
7: 18,258,709 (GRCm39) |
Y322* |
probably null |
Het |
Pzp |
G |
A |
6: 128,466,011 (GRCm39) |
A1223V |
probably damaging |
Het |
Rassf8 |
A |
T |
6: 145,761,268 (GRCm39) |
Y198F |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,573,365 (GRCm39) |
Q42R |
probably benign |
Het |
Sirpb1b |
A |
C |
3: 15,613,729 (GRCm39) |
C51G |
probably damaging |
Het |
Snx13 |
C |
T |
12: 35,150,643 (GRCm39) |
Q316* |
probably null |
Het |
Spesp1 |
A |
G |
9: 62,189,331 (GRCm39) |
V5A |
possibly damaging |
Het |
Sprr2e |
G |
A |
3: 92,260,370 (GRCm39) |
C67Y |
unknown |
Het |
Tcaf3 |
G |
A |
6: 42,573,697 (GRCm39) |
P172S |
probably damaging |
Het |
Tmem126b |
A |
G |
7: 90,120,155 (GRCm39) |
I72T |
probably benign |
Het |
Tmem17 |
G |
T |
11: 22,468,624 (GRCm39) |
V188L |
probably benign |
Het |
Tnfrsf1b |
T |
C |
4: 144,955,678 (GRCm39) |
|
probably null |
Het |
Tshz2 |
A |
T |
2: 169,725,944 (GRCm39) |
Q180L |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,612,494 (GRCm39) |
I1256F |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Ywhag |
G |
T |
5: 135,940,119 (GRCm39) |
H158Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTCTTATGCAGGACAACAG -3'
(R):5'- TAGCGTGCCTTGATTCGGATC -3'
Sequencing Primer
(F):5'- ACAACAGCCGGCGTGTG -3'
(R):5'- CCTTGATTCGGATCATGGGCC -3'
|
Posted On |
2016-09-01 |