Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Abi3'

487102

Institutional Source

Beutler Lab

Gene Symbol

Abi3

Ensembl Gene

ENSMUSG00000018381

Gene Name

ABI family member 3

Synonyms

2210414K06Rik

MMRRC Submission

044277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95720900-95733302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95727921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 90 (E90V)

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 damaging
Transcript: ENSMUST00000059026
AA Change: E90V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061893
Gene: ENSMUSG00000018381
AA Change: E90V

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Adgrv1	A	C	13: 81,575,864 (GRCm39)	V4834G	probably damaging	Het
Aen	A	T	7: 78,552,387 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,454,980 (GRCm39)	D26G	probably damaging	Het
Antxr2	T	C	5: 98,152,131 (GRCm39)	E160G	possibly damaging	Het
Auts2	T	C	5: 131,469,061 (GRCm39)	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948 (GRCm39)	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,895,341 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,650 (GRCm39)	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,183,566 (GRCm39)	L935P	probably damaging	Het
Dnah6	T	A	6: 73,165,477 (GRCm39)	T543S	probably benign	Het
Dnai3	A	C	3: 145,748,559 (GRCm39)	Y852D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,683,902 (GRCm39)	R420*	probably null	Het
Flg	A	G	3: 93,200,023 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,897 (GRCm39)	I31F	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gsta1	T	A	9: 78,149,847 (GRCm39)	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,395,891 (GRCm39)		probably null	Het
Igf2bp1	A	C	11: 95,864,846 (GRCm39)	L201R	probably damaging	Het
Jph3	G	A	8: 122,479,826 (GRCm39)	R168H	probably damaging	Het
Kif1a	T	A	1: 92,964,623 (GRCm39)	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,012,523 (GRCm39)	N717S	probably benign	Het
Lepr	A	T	4: 101,622,569 (GRCm39)	S450C	probably damaging	Het
Muc16	A	G	9: 18,501,994 (GRCm39)	V6535A	probably damaging	Het
Myom3	A	G	4: 135,489,882 (GRCm39)	T18A	probably benign	Het
Nlrp5	A	G	7: 23,103,598 (GRCm39)	K22E	probably benign	Het
Obscn	A	C	11: 58,968,771 (GRCm39)	S2534A	possibly damaging	Het
Or1j21	A	T	2: 36,684,055 (GRCm39)	D269V	probably benign	Het
Or2ak5	A	G	11: 58,611,133 (GRCm39)	V247A	probably damaging	Het
Pcdhga8	T	A	18: 37,860,580 (GRCm39)	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Saxo4	G	A	19: 10,455,128 (GRCm39)	P233L	probably benign	Het
Scap	A	G	9: 110,209,447 (GRCm39)	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,416,565 (GRCm39)	Q669R	probably benign	Het
Scin	T	C	12: 40,119,435 (GRCm39)	D531G	probably benign	Het
Sh2b3	T	C	5: 121,953,626 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,155 (GRCm39)	S657G	probably benign	Het
Stil	T	A	4: 114,887,058 (GRCm39)		probably null	Het
Syna	T	A	5: 134,587,122 (GRCm39)	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,937,255 (GRCm39)	S271P	probably damaging	Het
Tns2	A	G	15: 102,019,676 (GRCm39)	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,249,219 (GRCm39)	A149T	probably benign	Het
Trim21	A	T	7: 102,212,498 (GRCm39)	L156H	possibly damaging	Het
Trpv3	A	G	11: 73,187,309 (GRCm39)	R714G	possibly damaging	Het
Zfp87	T	A	13: 74,520,460 (GRCm39)	Q206L	possibly 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
R6036:Abi3	UTSW	11	95,723,684 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- CACAGCCATGATAGATGTCTCC -3'
(R):5'- CAAGTTCAGCTCTGGCCTTC -3'

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

Posted On

2017-10-10