Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Dab2ip'

513047

Institutional Source

Beutler Lab

Gene Symbol

Dab2ip

Ensembl Gene

ENSMUSG00000026883

Gene Name

disabled 2 interacting protein

Synonyms

2310011D08Rik, AIP1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.407) question?

Stock #

R6360 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

35558266-35730994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35710266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 355 (H355R)

Ref Sequence

ENSEMBL: ENSMUSP00000108616 (fasta)

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: H290R

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068832
Gene: ENSMUSG00000026883
AA Change: H290R

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
AA Change: H355R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088532
Gene: ENSMUSG00000026883
AA Change: H355R

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
AA Change: H231R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108607
Gene: ENSMUSG00000026883
AA Change: H231R

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
AA Change: H327R

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108610
Gene: ENSMUSG00000026883
AA Change: H327R

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
AA Change: H298R

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108611
Gene: ENSMUSG00000026883
AA Change: H298R

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
AA Change: H355R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108616
Gene: ENSMUSG00000026883
AA Change: H355R

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: H248R

SMART Domains

Protein: ENSMUSP00000119058
Gene: ENSMUSG00000026883
AA Change: H248R

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: ENSMUST00000135741
AA Change: H298R

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122341
Gene: ENSMUSG00000026883
AA Change: H298R

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

noncoding transcript
Transcript: ENSMUST00000138957

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

noncoding transcript
Transcript: ENSMUST00000156465

Predicted Effect

probably benign
Transcript: ENSMUST00000156669

SMART Domains

Protein: ENSMUSP00000121506
Gene: ENSMUSG00000026883

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	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
R6235:Dab2ip	UTSW	2	35723087	missense	probably damaging	1.00
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
R9263:Dab2ip	UTSW	2	35712879	missense	probably damaging	1.00
R9342:Dab2ip	UTSW	2	35723093	missense	possibly damaging	0.75
R9353:Dab2ip	UTSW	2	35708839	missense	probably damaging	1.00
R9423:Dab2ip	UTSW	2	35709954	missense	probably damaging	1.00
R9551:Dab2ip	UTSW	2	35715318	missense	possibly damaging	0.60
R9563:Dab2ip	UTSW	2	35719903	nonsense	probably null
X0011:Dab2ip	UTSW	2	35723085	nonsense	probably null
Z1176:Dab2ip	UTSW	2	35708868	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAACGCAACAGCTACCTG -3'
(R):5'- CCAGTCCTCCGAAATGAAGCAG -3'

Sequencing Primer
(F):5'- AACAGCTACCTGGGCCTG -3'
(R):5'- TCCGAAATGAAGCAGATCATAAC -3'

Posted On

2018-04-27