Mutagenetix > Incidental Mutation

Incidental Mutation 'R6963:Abi3'

543338

Institutional Source

Beutler Lab

Gene Symbol

Abi3

Ensembl Gene

ENSMUSG00000018381

Gene Name

ABI family member 3

Synonyms

2210414K06Rik

MMRRC Submission

045073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6963 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95720900-95733302 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 95723567 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: P359L

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: P359L

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

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: P238L

SMART Domains

Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381
AA Change: P238L

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

probably benign
Transcript: ENSMUST00000150134

Predicted Effect

probably benign
Transcript: ENSMUST00000176538

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,044,303 (GRCm39)	H196Y	probably damaging	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Asgr1	T	C	11: 69,946,794 (GRCm39)		probably null	Het
Atp2c2	C	T	8: 120,457,006 (GRCm39)	R203*	probably null	Het
Brms1	T	A	19: 5,096,681 (GRCm39)	I121N	probably damaging	Het
Ccdc149	G	A	5: 52,596,439 (GRCm39)	R58W	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fry	A	G	5: 150,381,309 (GRCm39)	T444A	probably benign	Het
Ggn	A	G	7: 28,871,007 (GRCm39)	E142G	probably damaging	Het
Gm5150	A	G	3: 16,060,555 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,104,811 (GRCm39)	Y17H	probably benign	Het
Gp2	A	G	7: 119,052,120 (GRCm39)	V198A	probably benign	Het
Gstm3	A	G	3: 107,874,940 (GRCm39)	V104A	probably benign	Het
Idua	A	G	5: 108,827,641 (GRCm39)	K152E	possibly damaging	Het
Igsf21	A	G	4: 139,755,041 (GRCm39)	S443P	probably benign	Het
Kdm5d	C	A	Y: 937,975 (GRCm39)	Q925K	probably benign	Het
Ly6k	G	C	15: 74,670,431 (GRCm39)	P37R	probably damaging	Het
Mcm9	A	G	10: 53,424,713 (GRCm39)	S626P	probably damaging	Het
Mcoln2	A	G	3: 145,877,790 (GRCm39)	K137R	probably damaging	Het
Mctp2	T	C	7: 71,877,804 (GRCm39)	N298S	probably damaging	Het
Myo10	T	C	15: 25,734,149 (GRCm39)	I379T	probably benign	Het
Myo15b	G	T	11: 115,781,540 (GRCm39)		probably null	Het
Nrg1	A	G	8: 32,407,690 (GRCm39)	F181S	probably benign	Het
Or5b24	C	T	19: 12,913,002 (GRCm39)	A300V	probably damaging	Het
Pals2	T	C	6: 50,140,635 (GRCm39)		probably null	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Rfc5	T	A	5: 117,525,931 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,455,104 (GRCm39)	S662P	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scfd2	A	G	5: 74,642,870 (GRCm39)	V359A	probably damaging	Het
Skp2	T	C	15: 9,139,515 (GRCm39)		probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tekt2	T	C	4: 126,218,110 (GRCm39)	E134G	probably damaging	Het
Ttll4	T	A	1: 74,720,975 (GRCm39)	I547K	probably damaging	Het
Vmn1r4	T	C	6: 56,933,769 (GRCm39)	I91T	probably damaging	Het
Vmn2r93	T	C	17: 18,536,849 (GRCm39)	S511P	probably damaging	Het
Vps50	T	C	6: 3,592,577 (GRCm39)		probably null	Het
Zeb2	T	G	2: 44,878,811 (GRCm39)	E1141A	probably damaging	Het
Zfp1002	A	G	2: 150,097,265 (GRCm39)	C55R	probably damaging	Het
Zfp326	T	A	5: 106,059,359 (GRCm39)	Y373*	probably null	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
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
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

PCR Primer
(F):5'- TTCCCACTGCTGTATGGAGC -3'
(R):5'- TATTACAGCTCCTGTATCACCGTGG -3'

Sequencing Primer
(F):5'- TGCTGTATGGAGCAGGGAC -3'
(R):5'- TGCATGACCGAGGGGACAC -3'

Posted On

2018-11-28