Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Dab2ip'

168833

Institutional Source

Beutler Lab

Gene Symbol

Dab2ip

Ensembl Gene

ENSMUSG00000026883

Gene Name

disabled 2 interacting protein

Synonyms

2310011D08Rik, AIP1

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35448285-35621006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35608803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 579 (R579H)

Ref Sequence

ENSEMBL: ENSMUSP00000068832 (fasta)

Gene Model

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

AlphaFold

Q3UHC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000065001
AA Change: R579H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: R579H

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: R644H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: R644H

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: R520H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: R520H

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: R616H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: R616H

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: R587H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: R587H

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: R644H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: R644H

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: ENSMUST00000156669
AA Change: R269H

SMART Domains

Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: R269H

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 damaging
Transcript: ENSMUST00000135741
AA Change: R587H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: R587H

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: R537H

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: R537H

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 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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,221,552 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,041,489 (GRCm39)	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,266,298 (GRCm39)	L832Q	probably damaging	Het
Acan	T	A	7: 78,750,552 (GRCm39)	H1774Q	probably benign	Het
Adss2	T	C	1: 177,599,760 (GRCm39)	T275A	probably benign	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Araf	G	T	X: 20,725,943 (GRCm39)	R522L	probably damaging	Het
Arhgef28	C	T	13: 98,102,054 (GRCm39)	V807I	possibly damaging	Het
Bin1	T	C	18: 32,545,757 (GRCm39)	I103T	probably damaging	Het
C4b	C	T	17: 34,958,995 (GRCm39)	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,568,047 (GRCm39)	P1015S	probably benign	Het
Capn1	A	G	19: 6,057,528 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,374,828 (GRCm39)	Q1358R	probably damaging	Het
Cfap126	T	C	1: 170,953,386 (GRCm39)		probably benign	Het
Chn1	T	C	2: 73,509,951 (GRCm39)		probably benign	Het
Cldn8	T	C	16: 88,359,289 (GRCm39)	E212G	probably benign	Het
Cpb1	T	C	3: 20,317,696 (GRCm39)	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,639,412 (GRCm39)	I138F	probably benign	Het
Dcaf8	T	C	1: 172,021,422 (GRCm39)	M538T	probably benign	Het
Dhrs4	T	G	14: 55,725,107 (GRCm39)	L201V	probably damaging	Het
Dnah12	C	T	14: 26,431,403 (GRCm39)	A407V	probably benign	Het
Elavl3	T	A	9: 21,937,461 (GRCm39)		probably benign	Het
Elp4	T	C	2: 105,662,506 (GRCm39)	H88R	probably benign	Het
Ercc3	T	C	18: 32,394,350 (GRCm39)		probably benign	Het
Eri1	A	G	8: 35,936,335 (GRCm39)	S329P	possibly damaging	Het
Erich2	A	T	2: 70,343,117 (GRCm39)		probably benign	Het
Esyt1	A	G	10: 128,348,297 (GRCm39)	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,557,588 (GRCm39)	E141G	probably damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,151,415 (GRCm39)	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,887,094 (GRCm39)	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,495,372 (GRCm39)	D194G	probably damaging	Het
Gpr89	A	G	3: 96,812,526 (GRCm39)	I5T	probably benign	Het
Gpx6	A	T	13: 21,503,090 (GRCm39)	H168L	probably benign	Het
Gusb	T	C	5: 130,027,385 (GRCm39)	T307A	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,477,193 (GRCm39)	D118G	probably benign	Het
Ipcef1	A	T	10: 6,885,173 (GRCm39)		probably null	Het
Kbtbd3	A	T	9: 4,330,276 (GRCm39)	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,374,880 (GRCm39)	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,213,674 (GRCm39)	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Map1lc3b	C	T	8: 122,323,339 (GRCm39)	R70C	possibly damaging	Het
Meiob	T	A	17: 25,032,026 (GRCm39)	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330 (GRCm39)	Y183*	probably null	Het
Mrs2	T	C	13: 25,189,017 (GRCm39)	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,396,387 (GRCm39)	K151R	probably benign	Het
Neb	T	G	2: 52,218,746 (GRCm39)	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,797,944 (GRCm39)	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,893,417 (GRCm39)	T122I	probably damaging	Het
Nuggc	A	T	14: 65,861,582 (GRCm39)	N476I	probably damaging	Het
Obscn	T	A	11: 58,921,862 (GRCm39)	H5978L	probably benign	Het
Oc90	G	T	15: 65,748,370 (GRCm39)	A412D	probably damaging	Het
Or2l13b	T	A	16: 19,349,133 (GRCm39)	D179V	possibly damaging	Het
Or3a4	A	G	11: 73,944,650 (GRCm39)	*312Q	probably null	Het
Or4a76	A	G	2: 89,460,358 (GRCm39)	S295P	possibly damaging	Het
Or5w18	T	G	2: 87,633,212 (GRCm39)	S160A	probably benign	Het
Or7a42	T	A	10: 78,791,682 (GRCm39)	S214R	probably benign	Het
Or8k33	A	T	2: 86,384,096 (GRCm39)	V124E	probably damaging	Het
Pdzrn3	A	T	6: 101,127,930 (GRCm39)	V912E	probably benign	Het
Phactr1	T	A	13: 43,248,466 (GRCm39)	Y387N	probably damaging	Het
Picalm	T	A	7: 89,779,859 (GRCm39)	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,891,077 (GRCm39)	I314F	possibly damaging	Het
Pold2	T	C	11: 5,824,175 (GRCm39)	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,523 (GRCm39)		probably benign	Het
Rac1	G	T	5: 143,493,093 (GRCm39)	A165E	probably damaging	Het
Rpap3	G	T	15: 97,584,364 (GRCm39)	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,357,232 (GRCm39)	T1012I	probably benign	Het
Sdad1	A	G	5: 92,457,682 (GRCm39)	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,903,127 (GRCm39)	K180T	probably damaging	Het
Sgpl1	T	C	10: 60,938,368 (GRCm39)	N475S	probably damaging	Het
Shroom3	T	C	5: 93,090,693 (GRCm39)	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,026,442 (GRCm39)	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489 (GRCm39)	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,251,997 (GRCm39)	I36V	probably benign	Het
Smarca2	C	G	19: 26,608,501 (GRCm39)	P263A	possibly damaging	Het
Sp100	T	C	1: 85,591,242 (GRCm39)		probably benign	Het
Spag6l	A	G	16: 16,598,478 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,071,498 (GRCm39)	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,245,115 (GRCm39)	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,845,719 (GRCm39)	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,668,313 (GRCm39)		probably null	Het
Tnfrsf9	T	A	4: 151,017,561 (GRCm39)		probably null	Het
Tnni3k	T	C	3: 154,645,295 (GRCm39)	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,989,934 (GRCm39)	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,780,714 (GRCm39)	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,782,071 (GRCm39)	H541P	probably damaging	Het
Zfp84	A	G	7: 29,476,039 (GRCm39)	I244V	possibly damaging	Het
Zyx	A	G	6: 42,333,246 (GRCm39)	Y393C	probably 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
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'- AGCCCACCTCCTTGATGAAGTAGG -3'
(R):5'- TTCCCAAAGAGCAGAGGCATTCC -3'

Sequencing Primer
(F):5'- GCTACCAGAGATGCCTCTTG -3'
(R):5'- AGAGGCATTCCTCCTTCAAG -3'

Posted On

2014-04-13