Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Abi1'

47431

Institutional Source

Beutler Lab

Gene Symbol

Abi1

Ensembl Gene

ENSMUSG00000058835

Gene Name

abl interactor 1

Synonyms

Ssh3bp1, E3B1

MMRRC Submission

038700-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R0505 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

22830085-22930207 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22852516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136846 (fasta)

Gene Model

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

AlphaFold

Q8CBW3

Predicted Effect

probably benign
Transcript: ENSMUST00000078977

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000091394

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835

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

probably benign
Transcript: ENSMUST00000093171

SMART Domains

Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000114544

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000123948

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000126112

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835

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

probably benign
Transcript: ENSMUST00000139038

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000153931

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835

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 benign
Transcript: ENSMUST00000178908

SMART Domains

Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140164

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835

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: ENSMUST00000149719

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835

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

noncoding transcript
Transcript: ENSMUST00000154162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156344

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably damaging	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
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
R7000:Abi1	UTSW	2	22,832,053 (GRCm39)	missense	probably damaging	1.00
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'- ACATGCACTCAGTCTCAGAAACTCTTTG -3'
(R):5'- CAGTTGCTTTGCTTCCATTGACTTACAG -3'

Sequencing Primer
(F):5'- GTAGAAAAGAGCTGAATTTGTACCCC -3'
(R):5'- ACAGTTAGGTTTCCCAGATGTGAC -3'

Posted On

2013-06-12