Incidental Mutation 'R3625:Dab2ip'
| ID |
269365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2ip
|
| Ensembl Gene |
ENSMUSG00000026883 |
| Gene Name |
disabled 2 interacting protein |
| Synonyms |
2310011D08Rik, AIP1 |
| MMRRC Submission |
040679-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R3625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35448285-35621006 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 35533903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 43
(S43*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091010]
[ENSMUST00000112986]
[ENSMUST00000112987]
[ENSMUST00000112992]
[ENSMUST00000135741]
[ENSMUST00000145698]
|
| AlphaFold |
Q3UHC7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091010
AA Change: S43*
|
| SMART Domains |
Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: S43*
| 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 null
Transcript: ENSMUST00000112986
AA Change: S15*
|
| SMART Domains |
Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: S15*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
| 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 null
Transcript: ENSMUST00000112992
AA Change: S43*
|
| SMART Domains |
Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: S43*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
| 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 null
Transcript: ENSMUST00000145698
AA Change: S43*
|
| SMART Domains |
Protein: ENSMUSP00000114915
Gene: ENSMUSG00000026883
AA Change: S43*
| 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 |
0.9713 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
| Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
| Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
| Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
| Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,578,337 (GRCm39) |
L676S |
probably damaging |
Het |
| Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
| Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
| Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
| Pogk |
G |
A |
1: 166,231,081 (GRCm39) |
T82I |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,731 (GRCm39) |
S296G |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
| Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
| Thy1 |
A |
G |
9: 43,958,028 (GRCm39) |
E52G |
probably damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,177,768 (GRCm39) |
T76A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
| Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTTAAATCTGGTCTTCTGGTCC -3'
(R):5'- ATGTTCTCCCGGTCCATGAG -3'
Sequencing Primer
(F):5'- AAATCTGGTCTTCTGGTCCTTTTG -3'
(R):5'- TCCATGAGGCTCCAGGAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation