Incidental Mutation 'R5513:Dab2ip'
ID |
440155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2ip
|
Ensembl Gene |
ENSMUSG00000026883 |
Gene Name |
disabled 2 interacting protein |
Synonyms |
2310011D08Rik, AIP1 |
MMRRC Submission |
043073-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.321)
|
Stock # |
R5513 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35600266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 294
(H294L)
|
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: H286L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000068832 Gene: ENSMUSG00000026883 AA Change: H286L
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: H351L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000088532 Gene: ENSMUSG00000026883 AA Change: H351L
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: H227L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108607 Gene: ENSMUSG00000026883 AA Change: H227L
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: H323L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000108610 Gene: ENSMUSG00000026883 AA Change: H323L
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: H294L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000108611 Gene: ENSMUSG00000026883 AA Change: H294L
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: H351L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108616 Gene: ENSMUSG00000026883 AA Change: H351L
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: H294L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122341 Gene: ENSMUSG00000026883 AA Change: H294L
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: H244L
|
SMART Domains |
Protein: ENSMUSP00000119058 Gene: ENSMUSG00000026883 AA Change: H244L
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 |
|
Meta Mutation Damage Score |
0.1245 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (59/61) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
T |
2: 103,539,623 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
A |
6: 34,293,581 (GRCm39) |
|
probably benign |
Het |
Alppl2 |
T |
A |
1: 87,015,060 (GRCm39) |
N434Y |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,982,983 (GRCm39) |
I648T |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,619,259 (GRCm39) |
E1510G |
probably benign |
Het |
Ano2 |
A |
C |
6: 126,016,285 (GRCm39) |
K939N |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,249,273 (GRCm39) |
Y8C |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,410,136 (GRCm39) |
I2609F |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,208,601 (GRCm39) |
S964T |
probably benign |
Het |
Cd22 |
C |
T |
7: 30,566,450 (GRCm39) |
R823Q |
probably damaging |
Het |
Cd74 |
T |
C |
18: 60,944,377 (GRCm39) |
C196R |
probably damaging |
Het |
Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
Cidec |
A |
T |
6: 113,405,140 (GRCm39) |
Y177N |
probably damaging |
Het |
Crb1 |
C |
T |
1: 139,164,559 (GRCm39) |
|
probably null |
Het |
Cts7 |
T |
C |
13: 61,503,398 (GRCm39) |
K189E |
possibly damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,691,850 (GRCm39) |
Y358N |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,167,402 (GRCm39) |
D502G |
probably null |
Het |
Dnah8 |
T |
A |
17: 30,971,890 (GRCm39) |
M2768K |
probably damaging |
Het |
Etl4 |
C |
A |
2: 20,748,638 (GRCm39) |
S405R |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,781,252 (GRCm39) |
L19F |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,542 (GRCm39) |
N3758K |
possibly damaging |
Het |
Fsip2 |
C |
G |
2: 82,781,256 (GRCm39) |
Q217E |
probably benign |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Hivep2 |
A |
T |
10: 14,008,417 (GRCm39) |
K1672* |
probably null |
Het |
Igkv2-137 |
G |
A |
6: 67,532,998 (GRCm39) |
G54S |
possibly damaging |
Het |
Ints8 |
A |
G |
4: 11,248,303 (GRCm39) |
V105A |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
Lrrc8b |
A |
G |
5: 105,633,850 (GRCm39) |
K774R |
probably damaging |
Het |
Mcm4 |
T |
A |
16: 15,448,378 (GRCm39) |
Y393F |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,309,479 (GRCm39) |
L324P |
probably damaging |
Het |
Or4d6 |
A |
G |
19: 12,086,745 (GRCm39) |
L55P |
probably damaging |
Het |
Or52n3 |
A |
T |
7: 104,530,706 (GRCm39) |
H264L |
probably damaging |
Het |
Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,102 (GRCm39) |
V158A |
probably benign |
Het |
Pld4 |
A |
G |
12: 112,728,988 (GRCm39) |
E19G |
probably benign |
Het |
Plvap |
T |
C |
8: 71,964,173 (GRCm39) |
E63G |
probably damaging |
Het |
Ppig |
A |
G |
2: 69,580,703 (GRCm39) |
T746A |
probably benign |
Het |
Prdm2 |
GCTCCTCCTCCTCCTCCTCCTCCTC |
GCTCCTCCTCCTCCTCCTCCTC |
4: 142,862,463 (GRCm39) |
|
probably benign |
Het |
Rbm15b |
A |
G |
9: 106,763,316 (GRCm39) |
L284P |
probably benign |
Het |
Relch |
G |
A |
1: 105,678,698 (GRCm39) |
V1130I |
probably damaging |
Het |
Rhbdl3 |
T |
C |
11: 80,222,668 (GRCm39) |
V239A |
probably damaging |
Het |
Sae1 |
T |
C |
7: 16,100,781 (GRCm39) |
E197G |
probably benign |
Het |
Sdhaf2 |
C |
T |
19: 10,494,394 (GRCm39) |
R105H |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,567,965 (GRCm39) |
D425G |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc46a1 |
T |
C |
11: 78,357,376 (GRCm39) |
F143S |
probably benign |
Het |
Tom1 |
T |
A |
8: 75,783,848 (GRCm39) |
N52K |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,114,617 (GRCm39) |
T94S |
probably damaging |
Het |
Zfp236 |
A |
G |
18: 82,676,147 (GRCm39) |
I390T |
probably damaging |
Het |
Zfp709 |
A |
T |
8: 72,643,900 (GRCm39) |
H443L |
probably damaging |
Het |
Zfp960 |
C |
T |
17: 17,307,996 (GRCm39) |
P237S |
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 |
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 |
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'- AGGAACGCAACAGCTACCTG -3'
(R):5'- CAGTCCTCCGAAATGAAGCAG -3'
Sequencing Primer
(F):5'- AACAGCTACCTGGGCCTG -3'
(R):5'- TCCGAAATGAAGCAGATCATAAC -3'
|
Posted On |
2016-11-08 |