Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Abi3bp'

8545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abi3bp

Ensembl Gene

ENSMUSG00000035258

Gene Name

ABI family member 3 binding protein

Synonyms

D930038M13Rik, TARSH, 5033411B22Rik, eratin

Accession Numbers

Essential gene?

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

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

56298241-56510498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56423168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 440 (D440G)

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 null
Transcript: ENSMUST00000048471
AA Change: D440G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: D440G

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 null
Transcript: ENSMUST00000096012
AA Change: D440G

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: D440G

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 null
Transcript: ENSMUST00000096013
AA Change: D440G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: D440G

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 null
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
AA Change: D440G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000231832

Predicted Effect

probably null
Transcript: ENSMUST00000231870
AA Change: D440G

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	T	A	15: 101,035,248 (GRCm39)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,209,367 (GRCm39)	S278P	probably damaging	Het
Aoc1l3	A	G	6: 48,964,673 (GRCm39)	D227G	probably damaging	Het
AW146154	T	C	7: 41,129,883 (GRCm39)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,922,890 (GRCm39)	K412M	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Dach1	A	T	14: 98,138,858 (GRCm39)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,086,818 (GRCm39)	W108R	probably damaging	Het
Elapor2	A	G	5: 9,472,367 (GRCm39)	T355A	probably damaging	Het
Fbn2	T	C	18: 58,229,060 (GRCm39)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,342,898 (GRCm39)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,165,117 (GRCm39)		probably null	Het
Gpr158	A	T	2: 21,831,629 (GRCm39)	K910*	probably null	Het
Grb14	G	A	2: 64,745,062 (GRCm39)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,615,729 (GRCm39)	D264G	probably benign	Het
Heatr3	A	G	8: 88,897,568 (GRCm39)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,880,490 (GRCm39)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,943,645 (GRCm39)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,705,345 (GRCm39)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,516,049 (GRCm39)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,904,637 (GRCm39)	N137S	probably damaging	Het
Lef1	T	C	3: 130,986,779 (GRCm39)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,188,359 (GRCm39)		probably benign	Het
Med15	G	A	16: 17,471,351 (GRCm39)	T642I	probably damaging	Het
Nasp	C	A	4: 116,461,196 (GRCm39)	E274*	probably null	Het
Nup210l	A	T	3: 90,098,156 (GRCm39)		probably benign	Het
Pgghg	T	C	7: 140,525,264 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,988,040 (GRCm39)	I54M	probably damaging	Het
Poldip3	C	T	15: 83,022,680 (GRCm39)	G35R	probably damaging	Het
Ppig	A	T	2: 69,563,268 (GRCm39)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,646,630 (GRCm39)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,482,310 (GRCm39)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,163,639 (GRCm39)	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,710,961 (GRCm39)		probably null	Het
Sema3d	G	A	5: 12,574,293 (GRCm39)	R265Q	probably damaging	Het
Tdp1	T	C	12: 99,859,907 (GRCm39)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,723,909 (GRCm39)	D145V	probably benign	Het
Trpc4	C	T	3: 54,209,596 (GRCm39)	P654S	probably damaging	Het
Yy1	T	G	12: 108,781,463 (GRCm39)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,136,113 (GRCm39)	Q161L	probably benign	Het

Other mutations in Abi3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Abi3bp	APN	16	56,495,573 (GRCm39)	missense	probably damaging	1.00
IGL01633:Abi3bp	APN	16	56,498,163 (GRCm39)	missense	probably damaging	1.00
IGL01783:Abi3bp	APN	16	56,353,332 (GRCm39)	critical splice donor site	probably null
IGL01866:Abi3bp	APN	16	56,492,336 (GRCm39)	missense	probably benign	0.19
IGL02022:Abi3bp	APN	16	56,412,999 (GRCm39)	missense	probably damaging	1.00
IGL02086:Abi3bp	APN	16	56,462,930 (GRCm39)	splice site	probably benign
IGL02122:Abi3bp	APN	16	56,507,491 (GRCm39)	splice site	probably benign
IGL02155:Abi3bp	APN	16	56,408,327 (GRCm39)	missense	probably damaging	0.99
IGL02351:Abi3bp	APN	16	56,474,418 (GRCm39)	missense	possibly damaging	0.91
IGL02358:Abi3bp	APN	16	56,474,418 (GRCm39)	missense	possibly damaging	0.91
IGL02418:Abi3bp	APN	16	56,424,479 (GRCm39)	splice site	probably benign
IGL02559:Abi3bp	APN	16	56,507,433 (GRCm39)	nonsense	probably null
IGL02617:Abi3bp	APN	16	56,394,807 (GRCm39)	nonsense	probably null
IGL02810:Abi3bp	APN	16	56,498,138 (GRCm39)	missense	probably damaging	1.00
IGL03057:Abi3bp	APN	16	56,488,754 (GRCm39)	missense	possibly damaging	0.95
IGL03174:Abi3bp	APN	16	56,435,110 (GRCm39)	missense	possibly damaging	0.64
R0389:Abi3bp	UTSW	16	56,491,670 (GRCm39)	missense	possibly damaging	0.79
R0485:Abi3bp	UTSW	16	56,424,375 (GRCm39)	splice site	probably null
R0557:Abi3bp	UTSW	16	56,488,750 (GRCm39)	missense	probably damaging	0.97
R0616:Abi3bp	UTSW	16	56,474,433 (GRCm39)	missense	probably damaging	0.99
R0685:Abi3bp	UTSW	16	56,353,316 (GRCm39)	missense	possibly damaging	0.90
R0783:Abi3bp	UTSW	16	56,415,601 (GRCm39)	critical splice acceptor site	probably null
R0828:Abi3bp	UTSW	16	56,498,193 (GRCm39)	missense	probably damaging	1.00
R0841:Abi3bp	UTSW	16	56,488,639 (GRCm39)	missense	possibly damaging	0.95
R1078:Abi3bp	UTSW	16	56,474,444 (GRCm39)	critical splice donor site	probably null
R1101:Abi3bp	UTSW	16	56,426,521 (GRCm39)	missense	probably damaging	1.00
R1116:Abi3bp	UTSW	16	56,506,792 (GRCm39)	splice site	probably benign
R1145:Abi3bp	UTSW	16	56,488,639 (GRCm39)	missense	possibly damaging	0.95
R1145:Abi3bp	UTSW	16	56,488,639 (GRCm39)	missense	possibly damaging	0.95
R1317:Abi3bp	UTSW	16	56,488,672 (GRCm39)	missense	possibly damaging	0.79
R1384:Abi3bp	UTSW	16	56,394,862 (GRCm39)	missense	probably damaging	1.00
R1460:Abi3bp	UTSW	16	56,382,780 (GRCm39)	missense	probably damaging	0.99
R1730:Abi3bp	UTSW	16	56,488,642 (GRCm39)	missense	possibly damaging	0.62
R1761:Abi3bp	UTSW	16	56,488,672 (GRCm39)	missense	possibly damaging	0.79
R1830:Abi3bp	UTSW	16	56,408,348 (GRCm39)	missense	probably damaging	1.00
R1873:Abi3bp	UTSW	16	56,394,862 (GRCm39)	missense	probably damaging	1.00
R1875:Abi3bp	UTSW	16	56,394,862 (GRCm39)	missense	probably damaging	1.00
R1996:Abi3bp	UTSW	16	56,491,720 (GRCm39)	missense	possibly damaging	0.61
R2018:Abi3bp	UTSW	16	56,498,159 (GRCm39)	missense	probably damaging	1.00
R2019:Abi3bp	UTSW	16	56,498,159 (GRCm39)	missense	probably damaging	1.00
R2035:Abi3bp	UTSW	16	56,480,581 (GRCm39)	missense	probably benign	0.21
R2118:Abi3bp	UTSW	16	56,298,227 (GRCm39)	unclassified	probably benign
R2202:Abi3bp	UTSW	16	56,471,088 (GRCm39)	nonsense	probably null
R2202:Abi3bp	UTSW	16	56,433,566 (GRCm39)	missense	probably benign	0.06
R2203:Abi3bp	UTSW	16	56,433,566 (GRCm39)	missense	probably benign	0.06
R3030:Abi3bp	UTSW	16	56,477,682 (GRCm39)	missense	possibly damaging	0.79
R3952:Abi3bp	UTSW	16	56,424,401 (GRCm39)	missense	possibly damaging	0.88
R4176:Abi3bp	UTSW	16	56,472,563 (GRCm39)	missense	probably damaging	0.96
R4296:Abi3bp	UTSW	16	56,488,673 (GRCm39)	missense	probably benign	0.05
R4301:Abi3bp	UTSW	16	56,377,266 (GRCm39)	missense	probably damaging	1.00
R4354:Abi3bp	UTSW	16	56,353,314 (GRCm39)	missense	probably benign	0.05
R4417:Abi3bp	UTSW	16	56,474,398 (GRCm39)	missense	probably damaging	1.00
R4716:Abi3bp	UTSW	16	56,471,088 (GRCm39)	nonsense	probably null
R4808:Abi3bp	UTSW	16	56,414,879 (GRCm39)	missense	probably damaging	0.96
R4814:Abi3bp	UTSW	16	56,471,116 (GRCm39)	missense	probably benign	0.06
R5016:Abi3bp	UTSW	16	56,491,631 (GRCm39)	missense	probably damaging	0.97
R5290:Abi3bp	UTSW	16	56,462,838 (GRCm39)	splice site	probably null
R5891:Abi3bp	UTSW	16	56,426,496 (GRCm39)	missense	probably damaging	1.00
R5897:Abi3bp	UTSW	16	56,425,032 (GRCm39)	missense	possibly damaging	0.53
R6146:Abi3bp	UTSW	16	56,491,628 (GRCm39)	missense	probably damaging	0.99
R6267:Abi3bp	UTSW	16	56,414,860 (GRCm39)	missense	probably damaging	0.97
R6905:Abi3bp	UTSW	16	56,394,880 (GRCm39)	missense	probably damaging	1.00
R6908:Abi3bp	UTSW	16	56,477,668 (GRCm39)	missense	probably benign	0.01
R6917:Abi3bp	UTSW	16	56,437,684 (GRCm39)	splice site	probably null
R7071:Abi3bp	UTSW	16	56,449,503 (GRCm39)	nonsense	probably null
R7194:Abi3bp	UTSW	16	56,382,734 (GRCm39)	missense	probably damaging	0.99
R7476:Abi3bp	UTSW	16	56,435,109 (GRCm39)	nonsense	probably null
R7554:Abi3bp	UTSW	16	56,438,575 (GRCm39)	splice site	probably null
R7571:Abi3bp	UTSW	16	56,451,345 (GRCm39)	splice site	probably null
R7661:Abi3bp	UTSW	16	56,453,263 (GRCm39)	splice site	probably null
R7662:Abi3bp	UTSW	16	56,437,686 (GRCm39)	splice site	probably null
R7910:Abi3bp	UTSW	16	56,498,105 (GRCm39)	nonsense	probably null
R8121:Abi3bp	UTSW	16	56,452,241 (GRCm39)	missense	unknown
R8781:Abi3bp	UTSW	16	56,426,512 (GRCm39)	missense	probably damaging	0.98
R8790:Abi3bp	UTSW	16	56,495,437 (GRCm39)	missense	probably damaging	1.00
R8828:Abi3bp	UTSW	16	56,507,455 (GRCm39)	missense	probably damaging	1.00
R9094:Abi3bp	UTSW	16	56,456,590 (GRCm39)	missense	probably benign	0.00
R9135:Abi3bp	UTSW	16	56,417,173 (GRCm39)	missense	probably benign	0.21
R9282:Abi3bp	UTSW	16	56,440,867 (GRCm39)	missense	unknown
R9363:Abi3bp	UTSW	16	56,438,575 (GRCm39)	splice site	probably null
R9464:Abi3bp	UTSW	16	56,409,046 (GRCm39)	missense	possibly damaging	0.48
R9506:Abi3bp	UTSW	16	56,437,773 (GRCm39)	missense	unknown
RF008:Abi3bp	UTSW	16	56,447,952 (GRCm39)	intron	probably benign
RF016:Abi3bp	UTSW	16	56,447,950 (GRCm39)	frame shift	probably null
RF052:Abi3bp	UTSW	16	56,447,948 (GRCm39)	intron	probably benign
RF061:Abi3bp	UTSW	16	56,447,950 (GRCm39)	frame shift	probably null

Posted On

2012-12-06