Mutagenetix > Incidental Mutation

Incidental Mutation 'R5897:Abi3bp'

457610

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

044096-MU

Accession Numbers

Essential gene?

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

Stock #

R5897 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56298241-56510498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56425032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 489 (T489A)

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
AA Change: T489A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T489A

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
AA Change: T489A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T489A

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: T489A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T489A

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: T489A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231832

Predicted Effect

probably benign
Transcript: ENSMUST00000231870
AA Change: T489A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,187,244 (GRCm39)	T416A	probably benign	Het
Agbl3	A	G	6: 34,780,508 (GRCm39)	I494V	probably benign	Het
Akap9	T	C	5: 4,127,904 (GRCm39)	S3747P	probably benign	Het
Arhgef18	G	T	8: 3,489,682 (GRCm39)	R338L	probably damaging	Het
Atg16l1	G	T	1: 87,713,719 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,010,339 (GRCm39)	S56P	possibly damaging	Het
Ccdc121	T	C	5: 31,643,308 (GRCm39)		probably benign	Het
Ccdc175	T	A	12: 72,206,578 (GRCm39)	I223L	probably benign	Het
Cdcp3	A	T	7: 130,798,280 (GRCm39)		probably null	Het
Cep76	T	A	18: 67,771,398 (GRCm39)	Q78L	probably benign	Het
Cyp20a1	A	C	1: 60,392,220 (GRCm39)	N92T	probably damaging	Het
Cyp2c68	T	C	19: 39,700,975 (GRCm39)	D281G	probably benign	Het
Cyp2j12	T	C	4: 95,990,279 (GRCm39)	N429S	probably damaging	Het
Dchs2	G	A	3: 83,192,717 (GRCm39)	V1721I	possibly damaging	Het
Elovl4	G	A	9: 83,672,157 (GRCm39)	T54M	possibly damaging	Het
Fam13b	A	G	18: 34,587,134 (GRCm39)	V542A	possibly damaging	Het
Gje1	A	T	10: 14,592,467 (GRCm39)	I105N	probably damaging	Het
Grm4	G	T	17: 27,654,137 (GRCm39)	F349L	probably benign	Het
Hsd17b3	A	G	13: 64,236,799 (GRCm39)		probably null	Het
Khdrbs1	A	T	4: 129,614,448 (GRCm39)	D368E	probably benign	Het
Klra10	T	A	6: 130,258,792 (GRCm39)	R32*	probably null	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Or2i1	A	T	17: 37,508,151 (GRCm39)	L161Q	probably damaging	Het
Or2t1	G	T	14: 14,328,120 (GRCm38)	G3V	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pbx3	A	T	2: 34,261,920 (GRCm39)	S5T	probably benign	Het
Pcdhb13	T	A	18: 37,576,264 (GRCm39)	V214E	probably benign	Het
Pkd1l1	T	C	11: 8,829,176 (GRCm39)	D1022G	probably benign	Het
Pla2g4a	T	A	1: 149,740,899 (GRCm39)	K380I	probably damaging	Het
Prl3b1	A	G	13: 27,429,858 (GRCm39)	T99A	probably benign	Het
Prr12	C	T	7: 44,692,808 (GRCm39)	V1575I	probably damaging	Het
Ptpn5	C	T	7: 46,729,262 (GRCm39)	V451I	probably benign	Het
Rab1a	C	T	11: 20,168,867 (GRCm39)	R51*	probably null	Het
Skint9	A	G	4: 112,271,113 (GRCm39)	I99T	possibly damaging	Het
Tbc1d8	A	G	1: 39,431,190 (GRCm39)	V394A	possibly damaging	Het
Tcf20	A	T	15: 82,735,984 (GRCm39)	C1822*	probably null	Het
Tdrd6	T	A	17: 43,935,768 (GRCm39)	D1760V	probably damaging	Het
Tinag	C	A	9: 76,952,726 (GRCm39)	C86F	probably damaging	Het
Tmtc2	A	T	10: 105,249,459 (GRCm39)	N91K	probably damaging	Het
Tmub1	G	A	5: 24,651,925 (GRCm39)	T13M	probably benign	Het
Txn2	G	A	15: 77,808,726 (GRCm39)	A135V	probably benign	Het
Ush2a	G	A	1: 188,553,935 (GRCm39)	G3475R	probably damaging	Het
Usp38	T	C	8: 81,732,082 (GRCm39)	D276G	probably benign	Het
Vax1	T	A	19: 59,158,233 (GRCm39)	I77F	unknown	Het
Vmn2r108	C	T	17: 20,691,580 (GRCm39)	M314I	probably benign	Het
Vmn2r4	C	A	3: 64,322,687 (GRCm39)	G11*	probably null	Het
Zcchc14	T	C	8: 122,331,899 (GRCm39)		probably benign	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
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
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'- GCCTGTTCTGAGCAATTAGC -3'
(R):5'- AACTCAGCTTCTTGAAGGATCCC -3'

Sequencing Primer
(F):5'- AGTGCCATCCATCAGCTGAG -3'
(R):5'- GCTTCTTGAAGGATCCCATGGTAAAG -3'

Posted On

2017-02-15