Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Abi3'

479226

Institutional Source

Beutler Lab

Gene Symbol

Abi3

Ensembl Gene

ENSMUSG00000018381

Gene Name

ABI family member 3

Synonyms

2210414K06Rik

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6036 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

95720900-95733302 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 95723684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

unknown
Transcript: ENSMUST00000059026
AA Change: Y320C

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: Y320C

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: Y199C

SMART Domains

Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381
AA Change: Y199C

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: ENSMUST00000176538

Predicted Effect

probably benign
Transcript: ENSMUST00000150134

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Alpk3	G	A	7: 80,743,005 (GRCm39)	V941M	probably benign	Het
Ano4	A	G	10: 88,818,127 (GRCm39)	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 43,919,194 (GRCm39)	Y464H	probably benign	Het
Barx2	A	T	9: 31,824,304 (GRCm39)	D28E	probably damaging	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Col10a1	A	G	10: 34,271,278 (GRCm39)	T417A	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,189,420 (GRCm39)	S227P	probably damaging	Het
Erv3	G	A	2: 131,697,925 (GRCm39)	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,251,779 (GRCm39)	T591A	possibly damaging	Het
F5	A	T	1: 164,012,565 (GRCm39)	E493V	probably damaging	Het
Gm8444	G	T	15: 81,727,794 (GRCm39)		probably benign	Het
Gria4	T	A	9: 4,537,646 (GRCm39)	I221L	probably benign	Het
H2bc13	A	T	13: 21,900,148 (GRCm39)	S56T	probably damaging	Het
Hc	T	C	2: 34,929,696 (GRCm39)	T249A	probably benign	Het
Herc2	A	G	7: 55,717,801 (GRCm39)	T48A	probably benign	Het
Hp	A	G	8: 110,303,406 (GRCm39)		probably null	Het
Ifna15	T	G	4: 88,476,310 (GRCm39)	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,308,421 (GRCm39)	M262L	probably benign	Het
Krt87	A	C	15: 101,385,412 (GRCm39)	I320S	possibly damaging	Het
Megf10	A	G	18: 57,375,799 (GRCm39)	N242D	probably damaging	Het
Nup155	A	G	15: 8,157,895 (GRCm39)	T451A	probably benign	Het
Or2ag2b	A	T	7: 106,417,667 (GRCm39)	I126F	probably damaging	Het
Or4g7	T	C	2: 111,309,333 (GRCm39)	L68P	probably damaging	Het
Or4k35	C	T	2: 111,099,957 (GRCm39)	G252R	probably damaging	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Or8d23	A	G	9: 38,842,216 (GRCm39)	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,293,641 (GRCm39)	P403S	probably damaging	Het
Piezo2	G	A	18: 63,248,019 (GRCm39)	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618 (GRCm39)	E191G	possibly damaging	Het
Pou4f2	A	T	8: 79,162,103 (GRCm39)	S167T	probably damaging	Het
Scd4	G	A	19: 44,333,231 (GRCm39)	D319N	probably damaging	Het
Senp2	A	T	16: 21,847,308 (GRCm39)	R279*	probably null	Het
Sh3rf3	G	A	10: 58,649,806 (GRCm39)	G137D	probably benign	Het
Simc1	C	T	13: 54,672,434 (GRCm39)	P261S	probably benign	Het
Slc26a1	T	A	5: 108,821,436 (GRCm39)	D151V	probably damaging	Het
Snx29	A	G	16: 11,556,301 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,530,556 (GRCm39)	A2271V	probably benign	Het
Stat6	A	G	10: 127,491,313 (GRCm39)	N485D	possibly damaging	Het
Tpcn2	T	C	7: 144,822,606 (GRCm39)	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,361,114 (GRCm39)	I378V	possibly damaging	Het
Ttc29	A	G	8: 79,052,205 (GRCm39)	D362G	probably benign	Het
Ttll7	A	G	3: 146,645,917 (GRCm39)	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,172 (GRCm39)	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,367,830 (GRCm39)	Q87R	probably damaging	Het
Wdfy4	G	T	14: 32,868,947 (GRCm39)	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,662,993 (GRCm39)	Y521H	probably damaging	Het

Other mutations in Abi3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Abi3	APN	11	95,726,625 (GRCm39)	missense	probably damaging	1.00
R0045:Abi3	UTSW	11	95,723,541 (GRCm39)	makesense	probably null
R0626:Abi3	UTSW	11	95,727,937 (GRCm39)	missense	probably benign	0.28
R0690:Abi3	UTSW	11	95,724,460 (GRCm39)	unclassified	probably benign
R4653:Abi3	UTSW	11	95,723,637 (GRCm39)	missense	probably benign	0.34
R5358:Abi3	UTSW	11	95,732,934 (GRCm39)	missense	probably benign	0.21
R5881:Abi3	UTSW	11	95,725,214 (GRCm39)	missense	probably damaging	1.00
R5881:Abi3	UTSW	11	95,725,213 (GRCm39)	missense	probably damaging	1.00
R6020:Abi3	UTSW	11	95,732,851 (GRCm39)	nonsense	probably null
R6036:Abi3	UTSW	11	95,723,684 (GRCm39)	unclassified	probably benign
R6130:Abi3	UTSW	11	95,727,921 (GRCm39)	missense	probably damaging	1.00
R6388:Abi3	UTSW	11	95,724,464 (GRCm39)	critical splice donor site	probably null
R6963:Abi3	UTSW	11	95,723,567 (GRCm39)	unclassified	probably benign
R7867:Abi3	UTSW	11	95,724,851 (GRCm39)	missense	possibly damaging	0.85
R7922:Abi3	UTSW	11	95,723,619 (GRCm39)	missense	unknown
R9641:Abi3	UTSW	11	95,724,503 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2017-06-26