Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Abi3bp'

231239

Institutional Source

Beutler Lab

Gene Symbol

Abi3bp

Ensembl Gene

ENSMUSG00000035258

Gene Name

ABI gene family, member 3 (NESH) binding protein

Synonyms

D930038M13Rik, eratin, TARSH, 5033411B22Rik

MMRRC Submission

040122-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R2118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56477878-56690135 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 56477864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]

AlphaFold

A0A338P6S8

Predicted Effect

probably benign
Transcript: ENSMUST00000048471

SMART Domains

Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	114	203	3.08e-2	SMART
low complexity region	433	446	N/A	INTRINSIC
low complexity region	516	528	N/A	INTRINSIC
low complexity region	579	591	N/A	INTRINSIC
low complexity region	734	747	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC
FN3	941	1024	6.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096012

SMART Domains

Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	114	203	3.08e-2	SMART
low complexity region	433	446	N/A	INTRINSIC
low complexity region	634	647	N/A	INTRINSIC
low complexity region	651	664	N/A	INTRINSIC
FN3	841	924	6.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096013

SMART Domains

Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	114	203	3.08e-2	SMART
low complexity region	433	446	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
low complexity region	687	700	N/A	INTRINSIC
FN3	877	960	6.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171000

SMART Domains

Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	114	203	3.08e-2	SMART
low complexity region	464	477	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
FN3	671	754	6.29e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231337

Predicted Effect

probably benign
Transcript: ENSMUST00000231781

Predicted Effect

probably benign
Transcript: ENSMUST00000231832

Predicted Effect

probably benign
Transcript: ENSMUST00000231870

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,440,364	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adamts8	T	C	9: 30,943,063	F76S	probably damaging	Het
Agpat3	T	C	10: 78,278,084	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
AI593442	T	C	9: 52,677,693	T195A	probably benign	Het
Aipl1	A	T	11: 72,029,369	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Arap2	G	A	5: 62,706,685	T532I	probably damaging	Het
Arg1	T	C	10: 24,920,723	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687	T27S	probably benign	Het
Ash1l	C	G	3: 88,985,295	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,713,892	V15A	probably benign	Het
Cdc20b	A	G	13: 113,078,698	I267V	probably benign	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Cenpe	T	A	3: 135,246,884	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,770,438	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,550,904	Q243E	probably benign	Het
Cnih2	C	A	19: 5,098,248	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,188,657	M1240I	probably benign	Het
Cntrl	T	C	2: 35,161,965	S1050P	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dbx2	A	C	15: 95,624,800	L342R	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,237,477	W30R	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancd2	A	G	6: 113,560,074		probably benign	Het
Fbxw14	T	C	9: 109,274,624		probably benign	Het
Gimap4	G	T	6: 48,690,971	C92F	probably benign	Het
Gm5828	A	G	1: 16,769,975		noncoding transcript	Het
Gnpat	T	C	8: 124,876,941	V186A	probably damaging	Het
Gnptab	T	C	10: 88,436,398	S967P	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Ints12	T	C	3: 133,109,160	V376A	probably damaging	Het
Kalrn	C	T	16: 34,332,230	S309N	possibly damaging	Het
Kel	T	A	6: 41,689,300	I471L	probably benign	Het
Klhl25	T	C	7: 75,866,732	V462A	probably damaging	Het
Ksr1	A	T	11: 79,045,193	M77K	probably benign	Het
Leo1	T	A	9: 75,445,812	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Mast4	A	G	13: 102,754,205	V855A	probably damaging	Het
Mdga2	T	A	12: 66,868,752	E43V	probably damaging	Het
Mmaa	A	T	8: 79,267,959	L406*	probably null	Het
Nlrp12	A	T	7: 3,241,449	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1314	C	A	2: 112,092,330	V124L	probably benign	Het
Olfr186	A	G	16: 59,027,815	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pappa2	T	C	1: 158,857,266	T768A	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,371,421	M373V	possibly damaging	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg16	C	A	7: 17,090,623	H111N	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,166	F569L	probably benign	Het
Rbpms2	T	A	9: 65,650,947	D116E	probably damaging	Het
Rgs20	A	G	1: 4,916,890		probably benign	Het
Rnf114	T	C	2: 167,510,883	L101P	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
RP23-114B10.6	A	C	8: 69,372,290		noncoding transcript	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,516,476	V181A	probably damaging	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Spag17	A	G	3: 100,049,240	E884G	possibly damaging	Het
Sycn	T	C	7: 28,541,288	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,803,166	I89K	probably damaging	Het
Tep1	C	A	14: 50,855,572		probably null	Het
Tex14	T	C	11: 87,519,743		probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Vmn1r200	C	T	13: 22,395,183	T43I	probably damaging	Het
Wars2	T	C	3: 99,216,567	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,617,443	R142C	probably benign	Het
Zfp729a	A	T	13: 67,621,494		probably null	Het
Zfp759	C	A	13: 67,139,514		probably benign	Het

Other mutations in Abi3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Abi3bp	APN	16	56602805	missense	probably null	0.99
IGL01580:Abi3bp	APN	16	56675210	missense	probably damaging	1.00
IGL01633:Abi3bp	APN	16	56677800	missense	probably damaging	1.00
IGL01783:Abi3bp	APN	16	56532969	critical splice donor site	probably null
IGL01866:Abi3bp	APN	16	56671973	missense	probably benign	0.19
IGL02022:Abi3bp	APN	16	56592636	missense	probably damaging	1.00
IGL02086:Abi3bp	APN	16	56642567	splice site	probably benign
IGL02122:Abi3bp	APN	16	56687128	splice site	probably benign
IGL02155:Abi3bp	APN	16	56587964	missense	probably damaging	0.99
IGL02351:Abi3bp	APN	16	56654055	missense	possibly damaging	0.91
IGL02358:Abi3bp	APN	16	56654055	missense	possibly damaging	0.91
IGL02418:Abi3bp	APN	16	56604116	splice site	probably benign
IGL02559:Abi3bp	APN	16	56687070	nonsense	probably null
IGL02617:Abi3bp	APN	16	56574444	nonsense	probably null
IGL02810:Abi3bp	APN	16	56677775	missense	probably damaging	1.00
IGL03057:Abi3bp	APN	16	56668391	missense	possibly damaging	0.95
IGL03174:Abi3bp	APN	16	56614747	missense	possibly damaging	0.64
R0389:Abi3bp	UTSW	16	56671307	missense	possibly damaging	0.79
R0485:Abi3bp	UTSW	16	56604012	splice site	probably null
R0557:Abi3bp	UTSW	16	56668387	missense	probably damaging	0.97
R0616:Abi3bp	UTSW	16	56654070	missense	probably damaging	0.99
R0685:Abi3bp	UTSW	16	56532953	missense	possibly damaging	0.90
R0783:Abi3bp	UTSW	16	56595238	critical splice acceptor site	probably null
R0828:Abi3bp	UTSW	16	56677830	missense	probably damaging	1.00
R0841:Abi3bp	UTSW	16	56668276	missense	possibly damaging	0.95
R1078:Abi3bp	UTSW	16	56654081	critical splice donor site	probably null
R1101:Abi3bp	UTSW	16	56606158	missense	probably damaging	1.00
R1116:Abi3bp	UTSW	16	56686429	splice site	probably benign
R1145:Abi3bp	UTSW	16	56668276	missense	possibly damaging	0.95
R1145:Abi3bp	UTSW	16	56668276	missense	possibly damaging	0.95
R1317:Abi3bp	UTSW	16	56668309	missense	possibly damaging	0.79
R1384:Abi3bp	UTSW	16	56574499	missense	probably damaging	1.00
R1460:Abi3bp	UTSW	16	56562417	missense	probably damaging	0.99
R1730:Abi3bp	UTSW	16	56668279	missense	possibly damaging	0.62
R1761:Abi3bp	UTSW	16	56668309	missense	possibly damaging	0.79
R1830:Abi3bp	UTSW	16	56587985	missense	probably damaging	1.00
R1873:Abi3bp	UTSW	16	56574499	missense	probably damaging	1.00
R1875:Abi3bp	UTSW	16	56574499	missense	probably damaging	1.00
R1996:Abi3bp	UTSW	16	56671357	missense	possibly damaging	0.61
R2018:Abi3bp	UTSW	16	56677796	missense	probably damaging	1.00
R2019:Abi3bp	UTSW	16	56677796	missense	probably damaging	1.00
R2035:Abi3bp	UTSW	16	56660218	missense	probably benign	0.21
R2202:Abi3bp	UTSW	16	56613203	missense	probably benign	0.06
R2202:Abi3bp	UTSW	16	56650725	nonsense	probably null
R2203:Abi3bp	UTSW	16	56613203	missense	probably benign	0.06
R3030:Abi3bp	UTSW	16	56657319	missense	possibly damaging	0.79
R3952:Abi3bp	UTSW	16	56604038	missense	possibly damaging	0.88
R4176:Abi3bp	UTSW	16	56652200	missense	probably damaging	0.96
R4296:Abi3bp	UTSW	16	56668310	missense	probably benign	0.05
R4301:Abi3bp	UTSW	16	56556903	missense	probably damaging	1.00
R4354:Abi3bp	UTSW	16	56532951	missense	probably benign	0.05
R4417:Abi3bp	UTSW	16	56654035	missense	probably damaging	1.00
R4716:Abi3bp	UTSW	16	56650725	nonsense	probably null
R4808:Abi3bp	UTSW	16	56594516	missense	probably damaging	0.96
R4814:Abi3bp	UTSW	16	56650753	missense	probably benign	0.06
R5016:Abi3bp	UTSW	16	56671268	missense	probably damaging	0.97
R5290:Abi3bp	UTSW	16	56642475	splice site	probably null
R5891:Abi3bp	UTSW	16	56606133	missense	probably damaging	1.00
R5897:Abi3bp	UTSW	16	56604669	missense	possibly damaging	0.53
R6146:Abi3bp	UTSW	16	56671265	missense	probably damaging	0.99
R6267:Abi3bp	UTSW	16	56594497	missense	probably damaging	0.97
R6905:Abi3bp	UTSW	16	56574517	missense	probably damaging	1.00
R6908:Abi3bp	UTSW	16	56657305	missense	probably benign	0.01
R6917:Abi3bp	UTSW	16	56617321	splice site	probably null
R7071:Abi3bp	UTSW	16	56629140	nonsense	probably null
R7194:Abi3bp	UTSW	16	56562371	missense	probably damaging	0.99
R7476:Abi3bp	UTSW	16	56614746	nonsense	probably null
R7554:Abi3bp	UTSW	16	56618212	splice site	probably null
R7571:Abi3bp	UTSW	16	56630982	splice site	probably null
R7661:Abi3bp	UTSW	16	56632900	splice site	probably null
R7662:Abi3bp	UTSW	16	56617323	splice site	probably null
R7910:Abi3bp	UTSW	16	56677742	nonsense	probably null
R8121:Abi3bp	UTSW	16	56631878	missense	unknown
R8781:Abi3bp	UTSW	16	56606149	missense	probably damaging	0.98
R8790:Abi3bp	UTSW	16	56675074	missense	probably damaging	1.00
R8828:Abi3bp	UTSW	16	56687092	missense	probably damaging	1.00
R9094:Abi3bp	UTSW	16	56636227	missense	probably benign	0.00
R9135:Abi3bp	UTSW	16	56596810	missense	probably benign	0.21
R9282:Abi3bp	UTSW	16	56620504	missense	unknown
R9363:Abi3bp	UTSW	16	56618212	splice site	probably null
R9464:Abi3bp	UTSW	16	56588683	missense	possibly damaging	0.48
R9506:Abi3bp	UTSW	16	56617410	missense	unknown
RF008:Abi3bp	UTSW	16	56627589	intron	probably benign
RF016:Abi3bp	UTSW	16	56627587	frame shift	probably null
RF052:Abi3bp	UTSW	16	56627585	intron	probably benign
RF061:Abi3bp	UTSW	16	56627587	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTTGCAGCATTGGAGAGG -3'
(R):5'- AGGACCTTTGACTCTCTGCAG -3'

Sequencing Primer
(F):5'- AGGGAAATGTGATGATATGTTTTTGC -3'
(R):5'- ATTCCCCCATATTGTACAGCAG -3'

Posted On

2014-09-18