Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Abi3'

57521

Institutional Source

Beutler Lab

Gene Symbol

Abi3

Ensembl Gene

ENSMUSG00000018381

Gene Name

ABI gene family, member 3

Synonyms

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95830074-95842476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95837111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 85 (A85S)

Ref Sequence

ENSEMBL: ENSMUSP00000061893 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000059026
AA Change: A85S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: A85S

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

probably benign
Transcript: ENSMUST00000137645

SMART Domains

Protein: ENSMUSP00000119990
Gene: ENSMUSG00000018381

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,788,721		probably benign	Het
6430571L13Rik	T	A	9: 107,342,508	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,550,773	N1018I	probably damaging	Het
Acsl5	A	T	19: 55,284,472	M340L	probably benign	Het
Adam29	T	A	8: 55,871,577	H614L	probably benign	Het
Adgrg6	A	T	10: 14,436,884	S720T	probably damaging	Het
Adrb2	G	T	18: 62,179,370	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,739,220	E510G	probably benign	Het
Angel1	A	G	12: 86,717,713		probably null	Het
Aox3	T	G	1: 58,172,299	I1005S	possibly damaging	Het
Apc	C	A	18: 34,318,454	P2767Q	probably damaging	Het
Apob	T	G	12: 8,016,193	D4387E	probably benign	Het
Apobr	T	C	7: 126,586,655	V446A	possibly damaging	Het
Arhgap28	A	T	17: 67,896,113		probably null	Het
Aspm	G	T	1: 139,491,601	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,522,880	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,446,990		probably null	Het
Bach1	A	G	16: 87,729,471	D607G	possibly damaging	Het
Batf3	A	G	1: 191,100,738	D27G	probably damaging	Het
Baz1a	G	T	12: 54,975,270	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,723,538	V86M	probably benign	Het
Birc7	A	G	2: 180,931,305	I172V	probably benign	Het
Bod1l	A	C	5: 41,831,537	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,488,817	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,393,546	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,224,043	Y37H	probably benign	Het
Clasrp	A	T	7: 19,584,493		probably benign	Het
Clec2d	T	A	6: 129,183,127	S35T	probably damaging	Het
Cntn4	T	A	6: 106,662,578	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,042,427	D245V	probably benign	Het
Col5a1	T	A	2: 27,928,243	L160*	probably null	Het
Col6a6	T	C	9: 105,777,744	E926G	probably benign	Het
Cpsf2	T	A	12: 101,985,231	H142Q	probably benign	Het
Cr2	A	C	1: 195,171,111	S20A	possibly damaging	Het
Cyp2j5	A	T	4: 96,659,512	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dmbt1	G	A	7: 131,102,081	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,416,554	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,477,683	S1709T	probably benign	Het
Dopey2	T	C	16: 93,763,956	V776A	probably damaging	Het
Emc3	T	C	6: 113,516,031	T220A	probably benign	Het
Entpd1	A	C	19: 40,727,325	N312T	probably benign	Het
Fam8a1	A	T	13: 46,671,223	I229F	probably damaging	Het
Fancc	G	A	13: 63,317,391	P501S	probably damaging	Het
Fasn	T	C	11: 120,811,925	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,988,958	I5012V	probably benign	Het
Glce	T	C	9: 62,061,000	T290A	probably benign	Het
Gm648	G	A	X: 56,545,039	P134L	probably benign	Het
Gns	G	A	10: 121,383,444		probably null	Het
Gsdma2	A	G	11: 98,651,984	N190S	probably damaging	Het
Hectd4	T	A	5: 121,277,824	S563T	probably benign	Het
Hmcn1	T	C	1: 150,798,719		probably null	Het
Jup	A	T	11: 100,376,763	M578K	probably benign	Het
Kir3dl1	G	A	X: 136,533,845		probably null	Het
Krt75	A	G	15: 101,573,590	F81S	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Maged2	T	A	X: 150,811,834	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,328,571	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742	V74G	possibly damaging	Het
Naca	A	G	10: 128,041,162		probably benign	Het
Nav3	T	G	10: 109,823,464	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,523,174	T293S	probably benign	Het
Numb	A	G	12: 83,795,840	Y510H	probably damaging	Het
Nynrin	T	G	14: 55,868,035	L834R	probably damaging	Het
Olfr1537	T	A	9: 39,237,866	N186I	possibly damaging	Het
Olfr318	G	T	11: 58,720,521	H176N	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Otog	T	C	7: 46,271,373	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 25,297,129	V43A	possibly damaging	Het
Pcnx	A	G	12: 81,983,676	Y1775C	possibly damaging	Het
Phka1	G	A	X: 102,520,831	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,293,901	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,019,258	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,575,575	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,717,301	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,040,585	R16*	probably null	Het
Polm	C	A	11: 5,836,207	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,860,405	M1T	probably null	Het
Ptprh	G	A	7: 4,564,272	L534F	probably benign	Het
Rabl6	C	T	2: 25,592,766		probably null	Het
Rap2a	A	G	14: 120,478,991	S89G	probably damaging	Het
Rara	A	T	11: 98,971,580		probably null	Het
Reck	A	G	4: 43,930,295	D623G	probably benign	Het
Relt	A	T	7: 100,848,816	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598		probably null	Het
Rtn4rl2	T	G	2: 84,880,419	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,688,437	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,553,442	S59G	probably benign	Het
Smarcd2	A	T	11: 106,267,415	M107K	probably benign	Het
Smg1	T	C	7: 118,182,383	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,221,814	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,642,783	S465P	probably benign	Het
Sp4	A	G	12: 118,299,579	L244P	probably damaging	Het
Sulf1	A	G	1: 12,817,492		probably null	Het
Tbc1d17	T	C	7: 44,843,085	T385A	probably benign	Het
Tbx10	C	A	19: 3,997,873	D206E	probably benign	Het
Tcea2	C	T	2: 181,687,638	P275S	probably damaging	Het
Tns3	C	A	11: 8,493,121	R414L	probably benign	Het
Trip11	T	C	12: 101,885,976	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 86,925,861	K213R	probably null	Het
Unc80	A	G	1: 66,608,442	S1514G	probably benign	Het
Usp7	G	T	16: 8,693,914	Q867K	possibly damaging	Het
Vim	T	C	2: 13,574,652	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,229,745	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,961,309	Y58*	probably null	Het
Wdr36	C	A	18: 32,850,531	A445E	probably damaging	Het
Xpo5	T	A	17: 46,221,433	W465R	probably damaging	Het
Zscan4d	T	A	7: 11,165,019	R110S	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
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	95834387	missense	probably damaging	1.00
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'- TCTCCAAAGTCTGGAATGTGCCAAC -3'
(R):5'- GCATCTAAGGACCGCAGCTTTCTC -3'

Sequencing Primer
(F):5'- GGAATGTGCCAACTTTCTGC -3'
(R):5'- TCCGACTCTGCCAAGGAAG -3'

Posted On

2013-07-11