Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02079:Abl1'

186077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abl1

Ensembl Gene

ENSMUSG00000026842

Gene Name

c-abl oncogene 1, non-receptor tyrosine kinase

Synonyms

c-Abl, E430008G22Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

31688376-31804227 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 31689948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075759] [ENSMUST00000123471] [ENSMUST00000135233] [ENSMUST00000142554]

AlphaFold

P00520

Predicted Effect

probably benign
Transcript: ENSMUST00000075759

SMART Domains

Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842

Domain	Start	End	E-Value	Type
SH3	83	139	6.95e-16	SMART
SH2	144	227	6.52e-32	SMART
TyrKc	261	512	4.48e-149	SMART
low complexity region	717	722	N/A	INTRINSIC
low complexity region	821	829	N/A	INTRINSIC
low complexity region	902	926	N/A	INTRINSIC
low complexity region	968	979	N/A	INTRINSIC
low complexity region	983	1002	N/A	INTRINSIC
FABD	1016	1142	1.36e-63	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123471

SMART Domains

Protein: ENSMUSP00000142297
Gene: ENSMUSG00000026842

Domain	Start	End	E-Value	Type
PDB:1OPL\|B	1	64	3e-39	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000135233

SMART Domains

Protein: ENSMUSP00000141320
Gene: ENSMUSG00000026842

Domain	Start	End	E-Value	Type
PDB:1OPL\|B	1	51	2e-28	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000142554

SMART Domains

Protein: ENSMUSP00000142123
Gene: ENSMUSG00000026842

Domain	Start	End	E-Value	Type
PDB:1OPL\|B	1	47	2e-27	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156736

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have increased perinatal and postnatal mortality and may display foreshortened crania, abnormal development of spleen, head, heart and eye, reduced B and T cell populations, and osteoporosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Abl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Abl1	APN	2	31790812	missense	probably damaging	1.00
IGL01453:Abl1	APN	2	31778977	missense	probably damaging	0.99
IGL02179:Abl1	APN	2	31792249	missense	probably damaging	1.00
IGL02424:Abl1	APN	2	31801132	missense	probably benign
IGL02824:Abl1	APN	2	31800819	missense	probably damaging	1.00
Hourglass	UTSW	2	31794574	missense	probably damaging	1.00
Sands	UTSW	2	31779010	missense	probably damaging	1.00
R0733:Abl1	UTSW	2	31778945	missense	probably damaging	1.00
R1222:Abl1	UTSW	2	31800994	missense	probably benign
R1428:Abl1	UTSW	2	31801810	missense	probably damaging	0.99
R1582:Abl1	UTSW	2	31800359	missense	probably damaging	1.00
R1596:Abl1	UTSW	2	31790338	missense	probably damaging	0.99
R1824:Abl1	UTSW	2	31800644	missense	probably benign	0.01
R2240:Abl1	UTSW	2	31800505	missense	probably benign	0.17
R2251:Abl1	UTSW	2	31779119	missense	probably damaging	1.00
R2405:Abl1	UTSW	2	31800974	missense	possibly damaging	0.50
R2893:Abl1	UTSW	2	31797612	missense	probably benign	0.22
R3952:Abl1	UTSW	2	31784537	missense	probably damaging	1.00
R4119:Abl1	UTSW	2	31801727	missense	probably damaging	1.00
R4210:Abl1	UTSW	2	31801696	missense	probably damaging	0.98
R4809:Abl1	UTSW	2	31800242	missense	probably damaging	1.00
R4854:Abl1	UTSW	2	31779010	missense	probably damaging	1.00
R5345:Abl1	UTSW	2	31797047	missense	probably damaging	0.97
R5518:Abl1	UTSW	2	31790742	missense	probably damaging	1.00
R5551:Abl1	UTSW	2	31801670	missense	probably benign	0.03
R5568:Abl1	UTSW	2	31779074	missense	probably damaging	1.00
R5627:Abl1	UTSW	2	31800583	missense	probably benign	0.00
R6435:Abl1	UTSW	2	31801549	missense	possibly damaging	0.93
R6492:Abl1	UTSW	2	31801655	missense	probably benign	0.38
R6738:Abl1	UTSW	2	31794574	missense	probably damaging	1.00
R7310:Abl1	UTSW	2	31800592	missense	possibly damaging	0.93
R7398:Abl1	UTSW	2	31790799	missense	probably damaging	1.00
R7639:Abl1	UTSW	2	31779161	missense	probably damaging	1.00
R7674:Abl1	UTSW	2	31689829	missense	possibly damaging	0.91
R7781:Abl1	UTSW	2	31790697	missense	probably damaging	1.00
R7802:Abl1	UTSW	2	31760426	missense	probably benign
R7941:Abl1	UTSW	2	31689679	start gained	probably benign
Z1176:Abl1	UTSW	2	31689827	missense	probably damaging	1.00

Posted On

2014-05-07