Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Abi1'

544436

Institutional Source

Beutler Lab

Gene Symbol

Abi1

Ensembl Gene

ENSMUSG00000058835

Gene Name

abl interactor 1

Synonyms

Ssh3bp1, E3B1

MMRRC Submission

045105-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22830085-22930207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22832053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 420 (A420V)

Ref Sequence

ENSEMBL: ENSMUSP00000120462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149229] [ENSMUST00000149719] [ENSMUST00000153931] [ENSMUST00000178908]

AlphaFold

Q8CBW3

Predicted Effect

probably benign
Transcript: ENSMUST00000053729

SMART Domains

Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:polyprenyl_synt	117	366	1.5e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000078977
AA Change: A397V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: A397V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.7e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	364	N/A	INTRINSIC
SH3	393	448	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091394
AA Change: A425V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: A425V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	4.1e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	281	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	336	351	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
SH3	421	476	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093171
AA Change: A396V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: A396V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.7e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	281	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	336	363	N/A	INTRINSIC
SH3	392	447	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114544
AA Change: A333V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: A333V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	4.4e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	268	300	N/A	INTRINSIC
SH3	329	384	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123948
AA Change: A426V

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

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: A426V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	5.1e-39	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	352	N/A	INTRINSIC
low complexity region	366	393	N/A	INTRINSIC
SH3	422	477	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126112
AA Change: A421V

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

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: A421V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	291	298	N/A	INTRINSIC
low complexity region	332	347	N/A	INTRINSIC
low complexity region	361	388	N/A	INTRINSIC
SH3	417	472	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139038
AA Change: A367V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: A367V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.4e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	293	N/A	INTRINSIC
low complexity region	307	334	N/A	INTRINSIC
SH3	363	418	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140164
AA Change: A420V

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

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: A420V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	360	387	N/A	INTRINSIC
SH3	416	471	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149229

Predicted Effect

probably damaging
Transcript: ENSMUST00000149719
AA Change: A391V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: A391V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	7.8e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	358	N/A	INTRINSIC
SH3	387	442	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153931
AA Change: A338V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: A338V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	273	305	N/A	INTRINSIC
SH3	334	389	2.38e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178908
AA Change: A426V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: A426V

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.9e-37	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	352	N/A	INTRINSIC
low complexity region	366	393	N/A	INTRINSIC
SH3	422	477	2.38e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,823 (GRCm39)	A525T	probably benign	Het
Abcc6	A	G	7: 45,654,946 (GRCm39)	I515T	possibly damaging	Het
Abtb2	A	T	2: 103,542,787 (GRCm39)	I887F	possibly damaging	Het
Acap3	G	A	4: 155,988,306 (GRCm39)	G602S	possibly damaging	Het
Auts2	T	A	5: 131,469,056 (GRCm39)	T754S	probably benign	Het
AW551984	T	C	9: 39,512,085 (GRCm39)	R12G	probably benign	Het
Bcan	G	A	3: 87,895,686 (GRCm39)	R817*	probably null	Het
Bmp10	A	G	6: 87,411,175 (GRCm39)	T323A	probably benign	Het
Bpnt1	T	C	1: 185,082,053 (GRCm39)	L165P	probably damaging	Het
Casz1	G	A	4: 149,013,693 (GRCm39)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,615,743 (GRCm39)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,895,080 (GRCm39)	F189L	probably benign	Het
Cep72	A	G	13: 74,206,444 (GRCm39)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,174,295 (GRCm39)	T483S	probably damaging	Het
Cfi	C	A	3: 129,666,522 (GRCm39)	T415K	probably damaging	Het
Chrna7	A	G	7: 62,755,787 (GRCm39)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,475,051 (GRCm39)	H596R	unknown	Het
Cplx3	G	C	9: 57,523,231 (GRCm39)	Q109E	probably benign	Het
Cyp2j8	A	T	4: 96,335,588 (GRCm39)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,399,980 (GRCm39)		probably null	Het
Dhdh	T	C	7: 45,124,698 (GRCm39)	K332E	possibly damaging	Het
Dnah11	C	A	12: 117,981,396 (GRCm39)	C2590F	probably damaging	Het
Dnah17	T	C	11: 117,916,528 (GRCm39)		probably null	Het
Dtx1	A	G	5: 120,833,148 (GRCm39)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,058,814 (GRCm39)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,808,208 (GRCm39)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,204,206 (GRCm39)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,330,285 (GRCm39)	Y521H	probably benign	Het
F5	C	T	1: 164,007,075 (GRCm39)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,146,560 (GRCm39)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,309,549 (GRCm39)		probably benign	Het
Flrt3	G	A	2: 140,502,804 (GRCm39)	R275*	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Fscn1	T	A	5: 142,946,382 (GRCm39)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,811,418 (GRCm39)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,491,143 (GRCm39)	S694G	probably benign	Het
Iglon5	A	T	7: 43,126,254 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,361,892 (GRCm39)	T874A	probably benign	Het
Lamc2	T	A	1: 153,041,873 (GRCm39)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,066,777 (GRCm39)	D37E	probably benign	Het
Loxhd1	T	C	18: 77,460,129 (GRCm39)		probably null	Het
Lxn	T	G	3: 67,369,704 (GRCm39)	E60D	probably benign	Het
Man2b2	A	G	5: 36,979,213 (GRCm39)	W276R	probably damaging	Het
Mast1	T	C	8: 85,655,598 (GRCm39)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,058,897 (GRCm39)	R923Q	probably benign	Het
Obscn	A	G	11: 59,026,864 (GRCm39)	L113P	probably damaging	Het
Ocln	C	T	13: 100,671,470 (GRCm39)		probably null	Het
Oog2	A	T	4: 143,921,897 (GRCm39)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,624,338 (GRCm39)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,341,987 (GRCm39)		probably benign	Het
Osbpl3	A	G	6: 50,274,137 (GRCm39)	S826P	probably damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,441,968 (GRCm39)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,859,946 (GRCm39)	I334K	probably benign	Het
Pde7b	A	G	10: 20,319,038 (GRCm39)	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,242,128 (GRCm39)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,817,692 (GRCm39)	M148V	probably benign	Het
Plbd1	T	G	6: 136,589,836 (GRCm39)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 110,257,221 (GRCm39)	E594G	possibly damaging	Het
Pold3	A	T	7: 99,755,865 (GRCm39)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,487,783 (GRCm39)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,357,828 (GRCm39)		probably null	Het
Scarb2	T	C	5: 92,601,934 (GRCm39)	D320G	probably benign	Het
Sdk2	T	C	11: 113,693,995 (GRCm39)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,794,222 (GRCm39)	T204N	probably benign	Het
Slc23a2	T	C	2: 131,936,123 (GRCm39)	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476 (GRCm39)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,708,582 (GRCm39)	G128S	probably benign	Het
Supt16	A	T	14: 52,408,907 (GRCm39)	S822R	probably damaging	Het
Syn3	T	C	10: 85,916,116 (GRCm39)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,938,599 (GRCm39)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm39)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trim24	C	A	6: 37,935,613 (GRCm39)	T832K	probably benign	Het
Ubr4	C	T	4: 139,141,715 (GRCm39)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,490,492 (GRCm39)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,593,762 (GRCm39)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,208,819 (GRCm39)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,687,693 (GRCm39)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,107,206 (GRCm39)	Y432*	probably null	Het

Other mutations in Abi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Abi1	APN	2	22,831,942 (GRCm39)	missense	possibly damaging	0.71
IGL01694:Abi1	APN	2	22,850,725 (GRCm39)	missense	probably damaging	1.00
IGL01809:Abi1	APN	2	22,836,729 (GRCm39)	missense	probably benign	0.00
IGL02189:Abi1	APN	2	22,930,076 (GRCm39)	start codon destroyed	probably null	1.00
IGL03126:Abi1	APN	2	22,843,479 (GRCm39)	missense	probably benign	0.12
IGL03213:Abi1	APN	2	22,831,971 (GRCm39)	missense	probably damaging	1.00
IGL03325:Abi1	APN	2	22,861,240 (GRCm39)	missense	probably damaging	1.00
R0421:Abi1	UTSW	2	22,850,839 (GRCm39)	missense	probably damaging	1.00
R0505:Abi1	UTSW	2	22,852,516 (GRCm39)	splice site	probably benign
R1265:Abi1	UTSW	2	22,836,734 (GRCm39)	missense	possibly damaging	0.85
R1851:Abi1	UTSW	2	22,840,276 (GRCm39)	missense	possibly damaging	0.78
R2975:Abi1	UTSW	2	22,847,099 (GRCm39)	missense	probably damaging	0.99
R3416:Abi1	UTSW	2	22,930,014 (GRCm39)	missense	probably damaging	1.00
R5000:Abi1	UTSW	2	22,840,211 (GRCm39)	missense	probably damaging	1.00
R5277:Abi1	UTSW	2	22,884,660 (GRCm39)	missense	probably damaging	1.00
R5945:Abi1	UTSW	2	22,929,977 (GRCm39)	missense	probably damaging	1.00
R6785:Abi1	UTSW	2	22,843,479 (GRCm39)	missense	probably benign	0.12
R7249:Abi1	UTSW	2	22,847,101 (GRCm39)	missense	possibly damaging	0.82
R7565:Abi1	UTSW	2	22,836,596 (GRCm39)	missense	probably benign	0.00
R8052:Abi1	UTSW	2	22,843,555 (GRCm39)	missense	probably benign	0.04
R8252:Abi1	UTSW	2	22,861,284 (GRCm39)	splice site	probably benign
R8891:Abi1	UTSW	2	22,861,262 (GRCm39)	missense	probably damaging	0.96
R9214:Abi1	UTSW	2	22,831,989 (GRCm39)	nonsense	probably null
X0026:Abi1	UTSW	2	22,861,166 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAATCCCACAGTATGACGGAG -3'
(R):5'- AAGTGATTTAGGGACTTGATTGACC -3'

Sequencing Primer
(F):5'- GAGTCCAGTCACTCGATT -3'
(R):5'- GAGGCAGCAGCTGTACCTTTAATC -3'

Posted On

2019-05-13