Mutagenetix > Incidental Mutation

Incidental Mutation 'RF061:Abi3bp'

605420

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

RF061 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

56477878-56690135 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCCCACGACCC to GCCCACGACCCACGACCC at 56627587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156096 (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

probably null
Transcript: ENSMUST00000231781

Predicted Effect

probably benign
Transcript: ENSMUST00000231832

Predicted Effect

probably benign
Transcript: ENSMUST00000231870

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	ACTT	ACTTACTT	8: 124,839,831		probably null	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	GAGGC	GAGGCGGAGGCATAGGC	10: 81,643,567		probably null	Het
Bpifb4	A	ACCTCCAC	2: 153,957,128		probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,413		probably benign	Het
Chga	G	GCAC	12: 102,561,427		probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 87,040,435		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,910,130		probably null	Het
Fbrsl1	GTGCTGGTGCGT	GTGCTGGTGCGTCTGCTGGTGCGT	5: 110,378,131		probably benign	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCTG	4: 59,610,657		probably benign	Het
Il2	GGG	GGGGCTTGAAGTGGG	3: 37,125,841		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGACACCACAGC	1: 83,042,281		probably benign	Het
Lrch1	GCTGGTGGT	G	14: 74,947,555		probably null	Het
Lrch1	GGTGGTGTTG	GG	14: 74,947,567		probably null	Het
Mamld1	AGC	AGCCGC	X: 71,118,850		probably benign	Het
Map1a	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	2: 121,306,287		probably benign	Het
Olfr964-ps1	GA	GATATA	9: 39,686,753		probably null	Het
Pdcd11	AGGAGGAGG	AG	19: 47,113,445		probably null	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,909,609		probably benign	Het
Rfx5	A	T	3: 94,955,759	K54I	probably damaging	Het
Rps19	AAAAAAT	AAAAAATAAAAAT	7: 24,889,180		probably benign	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150		probably benign	Het
Sbp	GACAACA	GACAACACAGATGCTAACAACA	17: 23,945,377		probably benign	Het
Stab2	CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	10: 86,866,758		probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,092		probably benign	Het
Trim33	GGCCCCCGC	GGC	3: 103,280,217		probably benign	Het
Zfp598	ACAACCAC	ACAACCACAACCAC	17: 24,680,770		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
R2118:Abi3bp	UTSW	16	56477864	unclassified	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TTCTAGCATTGAACGAGCAACTC -3'
(R):5'- CTGTTTACCACAAGCACTGC -3'

Sequencing Primer
(F):5'- GCAACTCAACAACAGGATTTTACTTC -3'
(R):5'- CACTGCTTTGAGCCTCTGATGG -3'

Posted On

2019-12-04