Mutagenetix > Incidental Mutations

Incidental Mutation 'R8313:Dab2ip'

641481

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: 0.269) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35558266-35730994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35727428 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1106 (L1106S)

Ref Sequence

ENSEMBL: ENSMUSP00000088532 (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: L1041S

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

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: L1041S

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: L1106S

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

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: L1106S

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: L982S

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

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: L982S

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: L1078S

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

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: L1078S

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: L1049S

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

SMART Domains

Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: L1049S

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: L1055S

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

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: L1055S

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

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: L999S

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: L1049S

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

SMART Domains

Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: L1049S

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

SMART Domains

Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883
AA Change: L658S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl2	C	T	17: 79,852,604	W518*	probably null	Het
Atp13a2	G	A	4: 141,002,735	V646I	probably benign	Het
Bcar1	A	T	8: 111,713,638	F575I	probably benign	Het
Bpifa6	T	A	2: 153,989,258	L248*	probably null	Het
Ccdc38	T	C	10: 93,563,249	L193P	probably damaging	Het
Ch25h	A	C	19: 34,474,738	I130S	probably benign	Het
Chaf1a	C	A	17: 56,044,109	Q30K	unknown	Het
Dnah3	A	G	7: 119,951,152	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,175,296	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,910,691	Q200R	probably benign	Het
Epx	C	T	11: 87,872,731	R221Q	possibly damaging	Het
Exosc7	T	C	9: 123,127,877	L109P	probably damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fbxo22	T	A	9: 55,221,060	F222I	probably damaging	Het
Fcgbp	A	G	7: 28,086,344	D402G	probably benign	Het
Foxr1	A	G	9: 44,436,054	V62A	probably damaging	Het
Gm2016	A	T	12: 87,876,994	D137V	unknown	Het
Gm8267	A	T	14: 44,724,058	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,439,209	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,696,312	F76S	probably damaging	Het
Gpr33	A	G	12: 52,024,124	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599	T1012I	probably benign	Het
Itga1	T	A	13: 114,966,584	T1104S	probably benign	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Lama1	A	G	17: 67,750,520	T530A		Het
Lysmd2	A	T	9: 75,625,758		probably benign	Het
Mdk	T	C	2: 91,930,833	K128E	unknown	Het
Mphosph8	AC	A	14: 56,678,605		probably null	Het
Muc16	A	C	9: 18,525,147	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423	T1100S	probably benign	Het
Mxra7	T	C	11: 116,804,550	Y176C	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Myo18b	A	G	5: 112,875,179	S116P	unknown	Het
Noc3l	A	G	19: 38,795,810	L543P	probably damaging	Het
Olfr1355	C	T	10: 78,879,336	P55S	probably benign	Het
Olfr192	C	T	16: 59,098,641	G117D	unknown	Het
Olfr250	T	A	9: 38,368,050	V168E	probably damaging	Het
Pkm	G	T	9: 59,668,619	R106L	probably benign	Het
Prkab2	G	T	3: 97,663,595	V112F	probably benign	Het
Prkaca	A	T	8: 83,990,522	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,689,850	V387A	probably benign	Het
Rad17	T	C	13: 100,624,566	T485A	probably benign	Het
Rita1	G	T	5: 120,609,651	T194K	possibly damaging	Het
Rogdi	C	A	16: 5,013,449		probably benign	Het
Senp5	T	C	16: 31,989,299	D379G	probably benign	Het
Slc4a4	A	G	5: 89,046,263	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,580,360		probably benign	Het
Tmem175	T	A	5: 108,643,209	S208R	probably benign	Het
Tmem237	A	T	1: 59,108,078	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 123,170,713	N575K	possibly damaging	Het
Trak2	A	T	1: 58,921,147	C232*	probably null	Het
Ubr3	A	G	2: 69,945,134	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn1r231	C	T	17: 20,890,027	V209I	probably benign	Het
Vmn1r80	T	C	7: 12,193,067	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,872,528	I48N	probably benign	Het
Vstm2a	T	A	11: 16,281,898	V231E	probably damaging	Het
Zfp108	A	C	7: 24,260,662	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,853,630	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,225,588	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,910,969	H464Y	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCACTGGAATGGAAATAGCC -3'
(R):5'- TTAGCATCCTCAGAGCCCAGAG -3'

Sequencing Primer
(F):5'- TAGCCCCAGAGAGCAGAGTTG -3'
(R):5'- CAGAGACCTTGGTTCCTGGTC -3'

Posted On

2020-07-28