Mutagenetix > Incidental Mutation

Incidental Mutation 'R3952:Abi3bp'

308013

Institutional Source

Beutler Lab

Gene Symbol

Abi3bp

Ensembl Gene

ENSMUSG00000035258

Gene Name

ABI family member 3 binding protein

Synonyms

D930038M13Rik, TARSH, 5033411B22Rik, eratin

MMRRC Submission

040829-MU

Accession Numbers

Essential gene?

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

Stock #

R3952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56298241-56510498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56424401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 450 (T450I)

Ref Sequence

ENSEMBL: ENSMUSP00000093711 (fasta)

Gene Model

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

AlphaFold

A0A338P6S8

Predicted Effect

probably benign
Transcript: ENSMUST00000048471
AA Change: T450I

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T450I

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

possibly damaging
Transcript: ENSMUST00000096012
AA Change: T450I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T450I

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
AA Change: T450I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T450I

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

possibly damaging
Transcript: ENSMUST00000231781
AA Change: T450I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000231832

Predicted Effect

probably benign
Transcript: ENSMUST00000231870
AA Change: T450I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,451,158 (GRCm39)		probably benign	Het
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Abl1	A	T	2: 31,674,549 (GRCm39)	T213S	probably damaging	Het
Apc2	C	T	10: 80,150,318 (GRCm39)	R1762W	probably damaging	Het
Arl2	G	T	19: 6,184,707 (GRCm39)	T182N	probably benign	Het
Brd8	C	G	18: 34,747,497 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Clca3a2	A	G	3: 144,508,822 (GRCm39)	Y666H	probably damaging	Het
Cmya5	A	G	13: 93,225,707 (GRCm39)	V3127A	possibly damaging	Het
Copg1	G	A	6: 87,882,198 (GRCm39)	A598T	probably benign	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Epha1	C	A	6: 42,341,219 (GRCm39)	L535F	probably damaging	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fads2b	T	C	2: 85,330,548 (GRCm39)		probably benign	Het
Ggcx	G	A	6: 72,403,541 (GRCm39)	G363R	probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kpna1	A	T	16: 35,823,252 (GRCm39)	T35S	probably benign	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Mgat4a	A	G	1: 37,489,495 (GRCm39)		probably benign	Het
Mrpl48	T	A	7: 100,209,130 (GRCm39)		probably benign	Het
Ncapd2	T	C	6: 125,163,747 (GRCm39)	K78E	probably damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Or10a3n	C	A	7: 108,493,189 (GRCm39)	V142L	probably benign	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Or6c69	A	G	10: 129,747,505 (GRCm39)	I214T	probably benign	Het
Pacs2	T	C	12: 113,024,733 (GRCm39)	S408P	probably damaging	Het
Pcx	C	T	19: 4,667,995 (GRCm39)	H506Y	probably benign	Het
Pla2g6	G	T	15: 79,197,296 (GRCm39)	P93T	probably damaging	Het
Pramel28	C	T	4: 143,692,356 (GRCm39)	W215*	probably null	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rcor1	A	G	12: 111,006,169 (GRCm39)		probably benign	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Sytl2	T	A	7: 90,030,700 (GRCm39)		probably benign	Het
Tia1	T	C	6: 86,393,319 (GRCm39)	F53S	probably damaging	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Tmod1	A	G	4: 46,078,315 (GRCm39)	N41S	probably damaging	Het
Ttn	T	C	2: 76,583,139 (GRCm39)	I22585V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt1a10	C	A	1: 88,143,862 (GRCm39)	H361N	probably damaging	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Vps39	C	T	2: 120,180,656 (GRCm39)	R43Q	probably benign	Het
Vwa5b2	T	C	16: 20,417,111 (GRCm39)	*603Q	probably null	Het
Zeb1	G	A	18: 5,772,716 (GRCm39)	A1002T	probably benign	Het
Zxdc	A	G	6: 90,347,449 (GRCm39)		probably null	Het

Other mutations in Abi3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Abi3bp	APN	16	56,423,168 (GRCm39)	missense	probably null	0.99
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	56,433,566 (GRCm39)	missense	probably benign	0.06
R2202:Abi3bp	UTSW	16	56,471,088 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTGAGGCCATCTTCAGTG -3'
(R):5'- TGTCCATGCAGTTCTTAAAGATTGG -3'

Sequencing Primer
(F):5'- AGTGCCTATTGAATCACTGGC -3'
(R):5'- TCACTTAGTATGAGAGAAAGTGTCAG -3'

Posted On

2015-04-17