Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Dab2ip'

26832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dab2ip

Ensembl Gene

ENSMUSG00000026883

Gene Name

disabled 2 interacting protein

Synonyms

2310011D08Rik, AIP1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

35558266-35730994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35717112 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 523 (F523S)

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: F515S

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

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: F515S

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: F580S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: F580S

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: F456S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: F456S

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: F552S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: F552S

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: F523S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: F523S

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: F580S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: F580S

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: F473S

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: F473S

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: F523S

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

SMART Domains

Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: F523S

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: F205S

SMART Domains

Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: F205S

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dbnl	G	T	11: 5,798,105	A313S	probably benign	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Ric1	T	C	19: 29,567,231	V151A	probably benign	Het
Sgo2a	A	G	1: 58,016,099	T481A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Snx19	A	T	9: 30,428,732	I389F	possibly damaging	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly 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
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
R6235:Dab2ip	UTSW	2	35723087	missense	probably damaging	1.00
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
X0011:Dab2ip	UTSW	2	35723085	nonsense	probably null
Z1176:Dab2ip	UTSW	2	35708868	missense	probably damaging	1.00

Posted On

2013-04-17