Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Abi3bp'

554300

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

045038-MU

Accession Numbers

Essential gene?

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

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56298241-56510498 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 56437684 bp (GRCm39)

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,768,876 (GRCm39)	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,521,164 (GRCm39)	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,115,951 (GRCm39)	E1018G	probably null	Het
Ccdc175	A	G	12: 72,231,679 (GRCm39)	S27P	probably damaging	Het
Ddx31	C	T	2: 28,782,421 (GRCm39)	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,997,215 (GRCm39)	W504R	probably damaging	Het
Echs1	T	G	7: 139,689,924 (GRCm39)	M239L	probably benign	Het
Eno1b	A	G	18: 48,180,656 (GRCm39)	D278G	probably benign	Het
Eno3	A	G	11: 70,552,262 (GRCm39)	T305A	probably benign	Het
Gm5591	T	A	7: 38,221,614 (GRCm39)	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680 (GRCm39)	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,502,681 (GRCm39)	T79A	probably damaging	Het
Ice1	A	T	13: 70,743,013 (GRCm39)	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,297,419 (GRCm39)	M311T	probably benign	Het
L1td1	T	C	4: 98,622,268 (GRCm39)	F277L	probably benign	Het
Lamp1	T	C	8: 13,222,563 (GRCm39)	I249T	probably damaging	Het
Ldb3	G	A	14: 34,277,321 (GRCm39)	A351V	probably null	Het
Lmo7	A	G	14: 102,155,446 (GRCm39)	E996G	probably damaging	Het
Lsr	T	C	7: 30,657,721 (GRCm39)	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,744,970 (GRCm39)	E290G	possibly damaging	Het
Nos2	C	T	11: 78,842,053 (GRCm39)	T735M	possibly damaging	Het
Or10ak12	A	T	4: 118,666,326 (GRCm39)	L245H	probably damaging	Het
Or11h6	A	G	14: 50,880,680 (GRCm39)	K314R	possibly damaging	Het
Or8g36	T	A	9: 39,422,495 (GRCm39)	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,841,899 (GRCm39)	L768P	probably benign	Het
Plod2	T	A	9: 92,475,823 (GRCm39)	V302D	possibly damaging	Het
Ptgdr	A	T	14: 45,096,067 (GRCm39)	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,770,159 (GRCm39)	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 180,980,070 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,825,388 (GRCm39)	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,088,578 (GRCm39)	T141N	probably damaging	Het
Sp4	G	T	12: 118,262,908 (GRCm39)	N379K	probably damaging	Het
Thrap3	A	G	4: 126,074,285 (GRCm39)		probably benign	Het
Thumpd2	T	G	17: 81,351,543 (GRCm39)	I293L	probably benign	Het
Tjp1	A	G	7: 64,949,436 (GRCm39)	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,889,864 (GRCm39)	S326G	probably benign	Het
Txndc9	A	C	1: 38,034,887 (GRCm39)	S6A	probably benign	Het
Uhrf1	T	C	17: 56,616,574 (GRCm39)	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,741,832 (GRCm39)	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,452,745 (GRCm39)	S105T	probably benign	Het
Zfp445	A	T	9: 122,691,359 (GRCm39)		probably null	Het
Zfp654	A	T	16: 64,606,834 (GRCm39)	M456K	probably damaging	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
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
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'- CCAGCTACTGGCAGTAATAGAG -3'
(R):5'- TCCCCTAACCCAGATAGATAGG -3'

Sequencing Primer
(F):5'- GCTACTGGCAGTAATAGAGTTTCCC -3'
(R):5'- CTAACCCAGATAGATAGGAACCAG -3'

Posted On

2019-05-17