Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Abl1'

436984

Institutional Source

Beutler Lab

Gene Symbol

Abl1

Ensembl Gene

ENSMUSG00000026842

Gene Name

c-abl oncogene 1, non-receptor tyrosine kinase

Synonyms

c-Abl, E430008G22Rik

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31578388-31694239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31669086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 155 (A155V)

Ref Sequence

ENSEMBL: ENSMUSP00000075167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028190] [ENSMUST00000075759] [ENSMUST00000123471] [ENSMUST00000124089] [ENSMUST00000135233] [ENSMUST00000142554]

AlphaFold

P00520

Predicted Effect

probably damaging
Transcript: ENSMUST00000028190
AA Change: A136V

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

SMART Domains

Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: A136V

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
SH3	64	120	6.95e-16	SMART
SH2	125	208	6.52e-32	SMART
TyrKc	242	493	4.48e-149	SMART
low complexity region	698	703	N/A	INTRINSIC
low complexity region	802	810	N/A	INTRINSIC
low complexity region	883	907	N/A	INTRINSIC
low complexity region	949	960	N/A	INTRINSIC
low complexity region	964	983	N/A	INTRINSIC
FABD	997	1123	1.36e-63	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000075759
AA Change: A155V

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

SMART Domains

Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: A155V

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: ENSMUST00000124089

SMART Domains

Protein: ENSMUSP00000117748
Gene: ENSMUSG00000026842

Domain	Start	End	E-Value	Type
SH3	59	114	1.14e-11	SMART

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Aco2	T	A	15: 81,787,787 (GRCm39)	D212E	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Cilp	A	C	9: 65,187,515 (GRCm39)	R1203S	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Ep400	A	T	5: 110,904,071 (GRCm39)	V176E	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,735,309 (GRCm39)	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,065,777 (GRCm39)	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	probably benign	Het

Other mutations in Abl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Abl1	APN	2	31,680,824 (GRCm39)	missense	probably damaging	1.00
IGL01453:Abl1	APN	2	31,668,989 (GRCm39)	missense	probably damaging	0.99
IGL02079:Abl1	APN	2	31,579,960 (GRCm39)	splice site	probably benign
IGL02179:Abl1	APN	2	31,682,261 (GRCm39)	missense	probably damaging	1.00
IGL02424:Abl1	APN	2	31,691,144 (GRCm39)	missense	probably benign
IGL02824:Abl1	APN	2	31,690,831 (GRCm39)	missense	probably damaging	1.00
Hourglass	UTSW	2	31,684,586 (GRCm39)	missense	probably damaging	1.00
Sands	UTSW	2	31,669,022 (GRCm39)	missense	probably damaging	1.00
R0733:Abl1	UTSW	2	31,668,957 (GRCm39)	missense	probably damaging	1.00
R1222:Abl1	UTSW	2	31,691,006 (GRCm39)	missense	probably benign
R1428:Abl1	UTSW	2	31,691,822 (GRCm39)	missense	probably damaging	0.99
R1582:Abl1	UTSW	2	31,690,371 (GRCm39)	missense	probably damaging	1.00
R1596:Abl1	UTSW	2	31,680,350 (GRCm39)	missense	probably damaging	0.99
R1824:Abl1	UTSW	2	31,690,656 (GRCm39)	missense	probably benign	0.01
R2240:Abl1	UTSW	2	31,690,517 (GRCm39)	missense	probably benign	0.17
R2251:Abl1	UTSW	2	31,669,131 (GRCm39)	missense	probably damaging	1.00
R2405:Abl1	UTSW	2	31,690,986 (GRCm39)	missense	possibly damaging	0.50
R2893:Abl1	UTSW	2	31,687,624 (GRCm39)	missense	probably benign	0.22
R3952:Abl1	UTSW	2	31,674,549 (GRCm39)	missense	probably damaging	1.00
R4119:Abl1	UTSW	2	31,691,739 (GRCm39)	missense	probably damaging	1.00
R4210:Abl1	UTSW	2	31,691,708 (GRCm39)	missense	probably damaging	0.98
R4809:Abl1	UTSW	2	31,690,254 (GRCm39)	missense	probably damaging	1.00
R4854:Abl1	UTSW	2	31,669,022 (GRCm39)	missense	probably damaging	1.00
R5345:Abl1	UTSW	2	31,687,059 (GRCm39)	missense	probably damaging	0.97
R5518:Abl1	UTSW	2	31,680,754 (GRCm39)	missense	probably damaging	1.00
R5551:Abl1	UTSW	2	31,691,682 (GRCm39)	missense	probably benign	0.03
R5627:Abl1	UTSW	2	31,690,595 (GRCm39)	missense	probably benign	0.00
R6435:Abl1	UTSW	2	31,691,561 (GRCm39)	missense	possibly damaging	0.93
R6492:Abl1	UTSW	2	31,691,667 (GRCm39)	missense	probably benign	0.38
R6738:Abl1	UTSW	2	31,684,586 (GRCm39)	missense	probably damaging	1.00
R7310:Abl1	UTSW	2	31,690,604 (GRCm39)	missense	possibly damaging	0.93
R7398:Abl1	UTSW	2	31,680,811 (GRCm39)	missense	probably damaging	1.00
R7639:Abl1	UTSW	2	31,669,173 (GRCm39)	missense	probably damaging	1.00
R7674:Abl1	UTSW	2	31,579,841 (GRCm39)	missense	possibly damaging	0.91
R7781:Abl1	UTSW	2	31,680,709 (GRCm39)	missense	probably damaging	1.00
R7802:Abl1	UTSW	2	31,650,438 (GRCm39)	missense	probably benign
R7941:Abl1	UTSW	2	31,579,691 (GRCm39)	start gained	probably benign
R9743:Abl1	UTSW	2	31,687,716 (GRCm39)	missense	probably benign	0.34
Z1176:Abl1	UTSW	2	31,579,839 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGTGACCAATGATATGTCTG -3'
(R):5'- AACTCACTGTCCTGGGCTAC -3'

Sequencing Primer
(F):5'- CAGTGACCAATGATATGTCTGTTTAC -3'
(R):5'- CCTCAGCCCATCAGTTCG -3'

Posted On

2016-10-24