Mutagenetix > Incidental Mutation

Incidental Mutation 'R5016:Abi3bp'

385596

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

042607-MU

Accession Numbers

Essential gene?

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

Stock #

R5016 (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 56491631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 768 (P768S)

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
AA Change: P848S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: P848S

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: P748S

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: P748S

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: P784S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: P784S

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
AA Change: P578S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: P578S

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 damaging
Transcript: ENSMUST00000231781
AA Change: P1306S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000231832
AA Change: P553S

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231870
AA Change: P768S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 95.1%
20x: 91.0%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	A	G	8: 13,274,889 (GRCm39)	L623P	possibly damaging	Het
Anapc1	A	T	2: 128,449,095 (GRCm39)		probably benign	Het
Ankzf1	C	A	1: 75,172,622 (GRCm39)		probably benign	Het
Ash1l	A	G	3: 88,889,630 (GRCm39)	D503G	probably damaging	Het
Atp7b	T	C	8: 22,505,885 (GRCm39)		probably null	Het
Bach1	T	A	16: 87,516,206 (GRCm39)	V249D	possibly damaging	Het
Ccdc158	A	G	5: 92,805,751 (GRCm39)	S335P	probably benign	Het
Chd9	T	A	8: 91,733,254 (GRCm39)	C1374*	probably null	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cygb	A	G	11: 116,540,840 (GRCm39)	F49L	probably benign	Het
Dnah17	G	C	11: 117,971,592 (GRCm39)	T2147S	probably damaging	Het
Drd3	C	A	16: 43,582,609 (GRCm39)	A34E	possibly damaging	Het
Ephb6	G	A	6: 41,595,041 (GRCm39)	R685Q	probably benign	Het
Ezh1	G	A	11: 101,090,063 (GRCm39)		probably benign	Het
Gpr19	T	A	6: 134,846,880 (GRCm39)	K231*	probably null	Het
Gpr61	A	G	3: 108,057,983 (GRCm39)	V226A	possibly damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hnrnpul2	A	G	19: 8,800,189 (GRCm39)	K185R	possibly damaging	Het
Igsf9	A	C	1: 172,318,279 (GRCm39)	T140P	probably damaging	Het
Ksr2	A	G	5: 117,638,857 (GRCm39)	D87G	probably benign	Het
Llgl2	A	G	11: 115,744,250 (GRCm39)	E843G	probably damaging	Het
Ltbp4	GT	G	7: 27,027,110 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,562,036 (GRCm39)	I20V	possibly damaging	Het
Mcm6	G	A	1: 128,271,164 (GRCm39)	T485M	probably damaging	Het
Miox	A	G	15: 89,219,767 (GRCm39)	D85G	probably null	Het
Nudt18	T	C	14: 70,816,903 (GRCm39)	F169S	probably benign	Het
Nxpe4	A	G	9: 48,304,185 (GRCm39)	N91D	probably benign	Het
Or13c7	T	C	4: 43,854,596 (GRCm39)	S96P	probably benign	Het
Or6c215	A	G	10: 129,637,662 (GRCm39)	V244A	probably benign	Het
Or8k39	T	G	2: 86,563,090 (GRCm39)	I289L	probably benign	Het
Pdss2	G	T	10: 43,098,001 (GRCm39)	A82S	probably damaging	Het
Ptprs	T	C	17: 56,726,070 (GRCm39)	D998G	probably damaging	Het
Rasd2	C	A	8: 75,948,603 (GRCm39)	N176K	probably damaging	Het
Serpinb3a	A	G	1: 106,974,060 (GRCm39)	F284L	probably damaging	Het
Skint6	T	A	4: 113,028,730 (GRCm39)		probably null	Het
Slc12a6	C	T	2: 112,186,972 (GRCm39)		probably benign	Het
Slc22a19	G	A	19: 7,651,737 (GRCm39)	T490M	probably benign	Het
Sp2	A	T	11: 96,846,658 (GRCm39)	C562S	probably damaging	Het
Specc1	A	G	11: 62,009,783 (GRCm39)	E433G	possibly damaging	Het
Sspo	C	T	6: 48,429,214 (GRCm39)	Q451*	probably null	Het
St6galnac1	A	T	11: 116,656,706 (GRCm39)	S478T	probably damaging	Het
Steap4	C	T	5: 8,026,699 (GRCm39)	R221*	probably null	Het
Ugt1a5	C	G	1: 88,093,963 (GRCm39)	R64G	probably benign	Het
Vmn1r202	A	T	13: 22,686,375 (GRCm39)	F14Y	probably damaging	Het
Vmn2r79	T	C	7: 86,686,548 (GRCm39)	V643A	probably benign	Het
Vmn2r91	C	A	17: 18,330,322 (GRCm39)	Y535*	probably null	Het
Wdr3	A	T	3: 100,048,936 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,468,266 (GRCm39)	M41T	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
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'- CAAGAACCAGGTCTTGCGTG -3'
(R):5'- TGCCAAGGAAAGGAGCGTATTC -3'

Sequencing Primer
(F):5'- AGGTCTTGCGTGCTCTCCAAG -3'
(R):5'- TTGATGAAAATTGAGGACCCCC -3'

Posted On

2016-05-10