Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Abi3'

454432

Institutional Source

Beutler Lab

Gene Symbol

Abi3

Ensembl Gene

ENSMUSG00000018381

Gene Name

ABI gene family, member 3

Synonyms

MMRRC Submission

044085-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5881 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

95830074-95842476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95834387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 159 (L159W)

Ref Sequence

ENSEMBL: ENSMUSP00000061893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054173] [ENSMUST00000059026] [ENSMUST00000107712] [ENSMUST00000133070] [ENSMUST00000150134]

AlphaFold

Q8BYZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000054173

SMART Domains

Protein: ENSMUSP00000057858
Gene: ENSMUSG00000050860

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	27	264	6.9e-103	PFAM
Pfam:HAD	29	211	1.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000059026
AA Change: L159W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: L159W

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
Pfam:Abi_HHR	96	168	4.3e-31	PFAM
low complexity region	206	225	N/A	INTRINSIC
low complexity region	233	252	N/A	INTRINSIC
low complexity region	259	303	N/A	INTRINSIC
SH3	312	367	1.41e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107712

SMART Domains

Protein: ENSMUSP00000103340
Gene: ENSMUSG00000038811

Domain	Start	End	E-Value	Type
G_gamma	5	69	6.71e-18	SMART
GGL	8	69	9.66e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131049

Predicted Effect

probably benign
Transcript: ENSMUST00000133070

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000137645
AA Change: L39W

SMART Domains

Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381
AA Change: L39W

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	1	49	8.8e-14	PFAM
low complexity region	87	106	N/A	INTRINSIC
low complexity region	114	133	N/A	INTRINSIC
low complexity region	140	183	N/A	INTRINSIC
SH3	192	244	2.89e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143492

Predicted Effect

probably benign
Transcript: ENSMUST00000150134

Predicted Effect

probably benign
Transcript: ENSMUST00000176538

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	C	11: 102,773,810	I406L	probably benign	Het
Ager	G	T	17: 34,600,077	V300L	probably damaging	Het
Ank3	C	T	10: 69,986,830	S1726L	probably benign	Het
Boc	A	G	16: 44,490,651	I740T	probably damaging	Het
C8a	T	A	4: 104,853,932	D178V	probably damaging	Het
Ces3a	G	A	8: 105,050,566	V174M	probably damaging	Het
Cisd1	A	T	10: 71,336,414	W13R	probably damaging	Het
Commd8	A	T	5: 72,162,764	D111E	probably benign	Het
Ddx60	A	T	8: 62,037,070	D1691V	probably damaging	Het
Desi2	A	G	1: 178,237,913	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,952,717	V24A	probably damaging	Het
Dock10	G	A	1: 80,560,923	T968M	probably benign	Het
Dsel	A	T	1: 111,859,438	F1122L	probably damaging	Het
Eml3	T	C	19: 8,933,443	F220L	probably damaging	Het
Entpd2	A	C	2: 25,400,812	N443H	probably damaging	Het
Epgn	A	G	5: 91,028,363	N36S	probably benign	Het
Fsip2	G	T	2: 82,984,441	S3506I	possibly damaging	Het
Gm10436	A	G	12: 88,176,341	L169P	probably damaging	Het
Gprin3	T	C	6: 59,354,786	S179G	probably benign	Het
Grifin	G	T	5: 140,563,587	H125N	possibly damaging	Het
Hils1	A	G	11: 94,968,163	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,630,327	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,498,170	F196L	probably benign	Het
Ice1	T	C	13: 70,606,501	K489E	probably benign	Het
Jmjd6	C	T	11: 116,839,856	W117*	probably null	Het
Lrit2	G	T	14: 37,072,235	A419S	probably benign	Het
Mc3r	T	C	2: 172,249,172	S105P	probably benign	Het
Mccc1	A	G	3: 35,964,382	V601A	probably benign	Het
Myo1f	A	G	17: 33,576,653	D91G	probably damaging	Het
Myo1f	G	A	17: 33,580,285	E255K	possibly damaging	Het
Necap1	T	A	6: 122,881,544	D115E	probably benign	Het
Olfr1271	A	T	2: 90,266,442		probably null	Het
Olfr65	T	A	7: 103,906,676	M79K	probably damaging	Het
Olfr725	G	A	14: 50,034,987	R139C	probably benign	Het
Papd4	A	T	13: 93,175,738	C180*	probably null	Het
Papln	A	G	12: 83,771,878	E78G	probably null	Het
Phldb3	T	C	7: 24,626,722		probably null	Het
Pkd1l2	A	G	8: 116,997,582	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,330,439	N118I	probably damaging	Het
Ppef2	A	T	5: 92,250,529	C43*	probably null	Het
Rab27a	G	A	9: 73,085,039		probably null	Het
Rabgap1l	A	T	1: 160,342,113	F47I	probably damaging	Het
Rala	A	G	13: 17,893,161	I95T	probably damaging	Het
Rgl2	A	G	17: 33,932,717	D245G	probably benign	Het
Rnf34	A	T	5: 122,864,083	T35S	probably damaging	Het
Ros1	C	T	10: 52,181,798	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,675,526	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,641,708		probably null	Het
Tdrd5	A	T	1: 156,294,500	S280T	probably damaging	Het
Tie1	T	C	4: 118,475,603	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,251,807	R194*	probably null	Het
Ybx3	A	C	6: 131,368,488	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,042,125	H1216L	probably damaging	Het

Other mutations in Abi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Abi3	APN	11	95835799	missense	probably damaging	1.00
R0045:Abi3	UTSW	11	95832715	makesense	probably null
R0626:Abi3	UTSW	11	95837111	missense	probably benign	0.28
R0690:Abi3	UTSW	11	95833634	unclassified	probably benign
R4653:Abi3	UTSW	11	95832811	missense	probably benign	0.34
R5358:Abi3	UTSW	11	95842108	missense	probably benign	0.21
R5881:Abi3	UTSW	11	95834388	missense	probably damaging	1.00
R6020:Abi3	UTSW	11	95842025	nonsense	probably null
R6036:Abi3	UTSW	11	95832858	unclassified	probably benign
R6036:Abi3	UTSW	11	95832858	unclassified	probably benign
R6130:Abi3	UTSW	11	95837095	missense	probably damaging	1.00
R6388:Abi3	UTSW	11	95833638	critical splice donor site	probably null
R6963:Abi3	UTSW	11	95832741	unclassified	probably benign
R7867:Abi3	UTSW	11	95834025	missense	possibly damaging	0.85
R7922:Abi3	UTSW	11	95832793	missense	unknown
R9641:Abi3	UTSW	11	95833677	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACTCAAGTGCTCACCCTG -3'
(R):5'- GCAAAGGGCAACTCAGTCAC -3'

Sequencing Primer
(F):5'- ATCCGGGGTGGTCTCCTAG -3'
(R):5'- AGGGCAACTCAGTCACTGTGG -3'

Posted On

2017-02-10