Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Dab2ip'

21998

Institutional Source

Beutler Lab

Gene Symbol

Dab2ip

Ensembl Gene

ENSMUSG00000026883

Gene Name

disabled 2 interacting protein

Synonyms

2310011D08Rik, AIP1

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35448285-35621006 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 35582388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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: S45P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: S45P

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

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883

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

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883

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

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883

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 benign
Transcript: ENSMUST00000112992

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883

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 null
Transcript: ENSMUST00000124098

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883

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 null
Transcript: ENSMUST00000124098

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883

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: 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 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

0.8366

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	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
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
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'- TTCAACGTGGTGGACACAGACATAG -3'
(R):5'- ACCTTCAAGGAGAACTAGCCCTCAG -3'

Sequencing Primer
(F):5'- CCAAAGGGTTCACCTCTTAAATGTC -3'
(R):5'- TAGCCCTCAGCCTCCAG -3'

Posted On

2013-04-12