Mutagenetix > Incidental Mutations

Incidental Mutation 'R6235:Dab2ip'

504846

Institutional Source

Beutler Lab

Gene Symbol

Dab2ip

Ensembl Gene

ENSMUSG00000026883

Gene Name

disabled 2 interacting protein

Synonyms

2310011D08Rik, AIP1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R6235 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

35558266-35730994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35723087 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1003 (E1003G)

Ref Sequence

ENSEMBL: ENSMUSP00000122341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065001] [ENSMUST00000091010] [ENSMUST00000112983] [ENSMUST00000112986] [ENSMUST00000112987] [ENSMUST00000112992] [ENSMUST00000135741] [ENSMUST00000145698]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065001
AA Change: E995G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: E995G

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: E1060G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: E1060G

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: E936G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: E936G

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: E1032G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: E1032G

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: E1003G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: E1003G

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: E1009G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: E1009G

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

unknown
Transcript: ENSMUST00000124098
AA Change: E953G

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: E953G

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: E1003G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: E1003G

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

unknown
Transcript: ENSMUST00000156669
AA Change: E612G

SMART Domains

Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: E612G

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

Meta Mutation Damage Score

0.1252

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772		probably null	Het
Baiap2	A	T	11: 119,981,408	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792		probably null	Het
Cep78	T	C	19: 15,976,486		probably null	Het
Cldn3	T	C	5: 134,986,719	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606	V410D	probably damaging	Het
Ctps	G	A	4: 120,558,806	L207F	probably benign	Het
Ddx31	C	G	2: 28,844,842	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904		probably benign	Het
Fbxw28	C	A	9: 109,326,190	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457	T215K	probably benign	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706	I152V	probably damaging	Het
Itk	T	C	11: 46,336,428	E456G	probably benign	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880	V204A	probably damaging	Het
Lipo1	A	G	19: 33,783,563	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113	Y26*	probably null	Het
Ntng2	C	A	2: 29,227,979	E152D	probably damaging	Het
Olfr1036	T	C	2: 86,075,166	L142P	possibly damaging	Het
Olfr1490	C	A	19: 13,654,781	C117*	probably null	Het
Otud3	A	T	4: 138,901,901	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945	L151P	probably damaging	Het
Pth1r	C	T	9: 110,722,316	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,635,338	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161	Q291L	unknown	Het
Reck	T	C	4: 43,937,450	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	G	T	7: 29,116,181	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237		probably benign	Het
Syngap1	A	G	17: 26,958,130	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246	I109T	probably benign	Het
Vsig10l	T	A	7: 43,468,972	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,112,822	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603	E209V	probably damaging	Het

Other mutations in Dab2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Dab2ip	APN	2	35720013	missense	probably damaging	1.00
IGL00799:Dab2ip	APN	2	35707775	missense	probably benign	0.25
IGL00902:Dab2ip	APN	2	35717112	missense	probably damaging	1.00
IGL00929:Dab2ip	APN	2	35708877	missense	possibly damaging	0.91
IGL03052:Dab2ip	UTSW	2	35643897	missense	probably benign	0.27
R0097:Dab2ip	UTSW	2	35718916	missense	possibly damaging	0.95
R0137:Dab2ip	UTSW	2	35692376	critical splice donor site	probably null
R0184:Dab2ip	UTSW	2	35718791	missense	probably damaging	1.00
R1195:Dab2ip	UTSW	2	35718745	splice site	probably benign
R1195:Dab2ip	UTSW	2	35718745	splice site	probably benign
R1388:Dab2ip	UTSW	2	35721256	intron	probably benign
R1442:Dab2ip	UTSW	2	35710256	missense	probably damaging	0.97
R1496:Dab2ip	UTSW	2	35718791	missense	probably damaging	1.00
R1665:Dab2ip	UTSW	2	35720278	missense	probably damaging	1.00
R1909:Dab2ip	UTSW	2	35718815	missense	probably damaging	1.00
R3625:Dab2ip	UTSW	2	35643891	nonsense	probably null
R3819:Dab2ip	UTSW	2	35713210	missense	probably damaging	1.00
R4333:Dab2ip	UTSW	2	35661620	makesense	probably null
R4869:Dab2ip	UTSW	2	35720037	missense	probably damaging	1.00
R4894:Dab2ip	UTSW	2	35730527	utr 3 prime	probably benign
R5035:Dab2ip	UTSW	2	35709941	missense	probably benign	0.03
R5180:Dab2ip	UTSW	2	35720491	missense	possibly damaging	0.83
R5425:Dab2ip	UTSW	2	35709991	missense	probably benign	0.25
R5513:Dab2ip	UTSW	2	35710254	missense	probably benign	0.11
R5579:Dab2ip	UTSW	2	35715327	nonsense	probably null
R5829:Dab2ip	UTSW	2	35707775	unclassified	probably benign
R5840:Dab2ip	UTSW	2	35727499	missense	probably damaging	0.98
R5890:Dab2ip	UTSW	2	35715402	missense	probably damaging	1.00
R6057:Dab2ip	UTSW	2	35692255	nonsense	probably null
R6360:Dab2ip	UTSW	2	35710266	missense	probably benign	0.38
R6571:Dab2ip	UTSW	2	35712890	missense	probably damaging	1.00
R6813:Dab2ip	UTSW	2	35730473	nonsense	probably null
R7262:Dab2ip	UTSW	2	35622286	splice site	probably null
R7883:Dab2ip	UTSW	2	35720206	missense	possibly damaging	0.51
R8127:Dab2ip	UTSW	2	35644126	critical splice donor site	probably benign
R8313:Dab2ip	UTSW	2	35727428	missense	probably damaging	1.00
R8387:Dab2ip	UTSW	2	35719858	missense	probably damaging	0.97
R8422:Dab2ip	UTSW	2	35707755	missense	probably damaging	0.97
R8560:Dab2ip	UTSW	2	35713132	missense	probably damaging	1.00
X0011:Dab2ip	UTSW	2	35723085	nonsense	probably null
Z1176:Dab2ip	UTSW	2	35708868	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGGGTTGAGTCTTCACCC -3'
(R):5'- AGAGGCCCTGTGGACAAATG -3'

Sequencing Primer
(F):5'- CTTTGGCAGCCACAGAGTTGAATC -3'
(R):5'- ACAAATGGGCAGCCTGC -3'

Posted On

2018-02-28