Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Abl1'

373764

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

042465-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31578388-31694239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31669022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 110 (Y110H)

Ref Sequence

ENSEMBL: ENSMUSP00000117748 (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: Y115H

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

SMART Domains

Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: Y115H

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: Y134H

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

SMART Domains

Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: Y134H

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 damaging
Transcript: ENSMUST00000124089
AA Change: Y110H

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

SMART Domains

Protein: ENSMUSP00000117748
Gene: ENSMUSG00000026842
AA Change: Y110H

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

Meta Mutation Damage Score

0.8649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,119,333 (GRCm39)		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,762,219 (GRCm39)	R73Q	probably damaging	Het
Agl	C	T	3: 116,572,267 (GRCm39)		probably null	Het
Amotl1	G	A	9: 14,504,747 (GRCm39)	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,743,214 (GRCm39)	K349E	possibly damaging	Het
Arhgap10	G	A	8: 78,146,718 (GRCm39)	Q229*	probably null	Het
Aspm	C	T	1: 139,405,810 (GRCm39)	Q1566*	probably null	Het
B3gnt3	G	A	8: 72,145,517 (GRCm39)	R284C	probably damaging	Het
Bltp3b	T	G	10: 89,630,346 (GRCm39)	V382G	probably damaging	Het
Brd4	A	G	17: 32,439,211 (GRCm39)	V423A	probably damaging	Het
Btbd9	A	T	17: 30,743,839 (GRCm39)	I221N	probably damaging	Het
Camp	A	G	9: 109,676,519 (GRCm39)	V168A	probably benign	Het
Cd1d2	T	A	3: 86,896,556 (GRCm39)		probably null	Het
Cdkn2d	A	T	9: 21,202,223 (GRCm39)	V8D	probably benign	Het
Cimap1a	A	G	7: 140,429,375 (GRCm39)	Y168C	probably damaging	Het
Clec4g	T	C	8: 3,766,534 (GRCm39)	N256D	probably damaging	Het
Clspn	A	G	4: 126,469,743 (GRCm39)	I771V	probably benign	Het
Cntn6	A	G	6: 104,836,436 (GRCm39)	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,775,950 (GRCm39)	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,745,888 (GRCm39)		probably benign	Het
Dubr	T	C	16: 50,552,886 (GRCm39)		noncoding transcript	Het
Dusp26	G	A	8: 31,584,165 (GRCm39)	V91M	probably damaging	Het
Edc4	A	T	8: 106,614,557 (GRCm39)		probably benign	Het
F5	C	T	1: 164,019,715 (GRCm39)	A730V	probably damaging	Het
Foxf1	A	G	8: 121,813,553 (GRCm39)	T358A	probably benign	Het
Frem1	A	T	4: 82,834,995 (GRCm39)	N1810K	possibly damaging	Het
Galc	A	T	12: 98,223,136 (GRCm39)	F87I	probably damaging	Het
Gars1	A	G	6: 55,023,403 (GRCm39)	D66G	probably damaging	Het
Gbp11	G	A	5: 105,473,374 (GRCm39)	L460F	probably damaging	Het
Gdf7	T	C	12: 8,348,014 (GRCm39)	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,282,135 (GRCm39)		probably benign	Het
Gm12239	T	C	11: 55,906,779 (GRCm39)		noncoding transcript	Het
Gm5592	A	C	7: 40,866,895 (GRCm39)		probably benign	Het
Gp2	A	T	7: 119,051,422 (GRCm39)	D264E	possibly damaging	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Grid1	A	G	14: 35,043,598 (GRCm39)	I318V	probably benign	Het
Grm2	C	A	9: 106,531,331 (GRCm39)	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,603,406 (GRCm39)	S632P	probably benign	Het
H2-M1	A	G	17: 36,980,950 (GRCm39)	F329L	probably benign	Het
Hecw1	T	A	13: 14,491,477 (GRCm39)	D92V	probably benign	Het
Hgh1	T	C	15: 76,253,382 (GRCm39)	L76P	probably damaging	Het
Idi2	C	A	13: 9,007,879 (GRCm39)	N63K	probably benign	Het
Ift122	A	G	6: 115,839,707 (GRCm39)	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,227,317 (GRCm39)	C575*	probably null	Het
Jup	A	G	11: 100,273,867 (GRCm39)	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,895,735 (GRCm39)	C244S	probably damaging	Het
Klhl2	T	A	8: 65,287,111 (GRCm39)	M46L	possibly damaging	Het
Ksr1	A	T	11: 78,918,528 (GRCm39)	I460N	probably damaging	Het
Lama3	T	A	18: 12,544,599 (GRCm39)	F314Y	probably benign	Het
Lbp	T	C	2: 158,169,438 (GRCm39)	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,437,929 (GRCm39)	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,001,089 (GRCm39)	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,701,806 (GRCm39)	D107Y	unknown	Het
Ms4a14	C	T	19: 11,287,733 (GRCm39)	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,585,516 (GRCm39)	E155K	probably benign	Het
Nbeal2	T	G	9: 110,460,464 (GRCm39)	H1790P	probably damaging	Het
Nsg2	G	A	11: 31,981,806 (GRCm39)	G84R	probably benign	Het
Or10ad1b	A	C	15: 98,125,425 (GRCm39)	F34V	possibly damaging	Het
Or12e10	A	G	2: 87,640,934 (GRCm39)	T257A	probably damaging	Het
P2rx2	T	C	5: 110,488,793 (GRCm39)	N224D	probably damaging	Het
P2rx5	A	T	11: 73,062,605 (GRCm39)	E438V	probably benign	Het
Paip1	C	A	13: 119,586,425 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,714,505 (GRCm39)	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,801,689 (GRCm39)	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,797 (GRCm39)	S4G	probably benign	Het
Ppp5c	T	C	7: 16,742,947 (GRCm39)	S224G	probably benign	Het
Prr30	T	G	14: 101,435,879 (GRCm39)	I228L	probably benign	Het
Purg	A	G	8: 33,877,342 (GRCm39)	I327V	possibly damaging	Het
Ralb	T	C	1: 119,403,645 (GRCm39)	T161A	probably benign	Het
Ripor3	T	C	2: 167,834,733 (GRCm39)	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,317,257 (GRCm39)		noncoding transcript	Het
Setd5	G	T	6: 113,128,360 (GRCm39)	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,649,545 (GRCm39)	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 126,200,340 (GRCm39)	T662K	probably damaging	Het
Skint5	A	G	4: 113,437,725 (GRCm39)	L1021S	unknown	Het
Slc22a23	T	C	13: 34,387,924 (GRCm39)	S391G	probably benign	Het
Slc4a5	G	A	6: 83,247,999 (GRCm39)	V402I	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Spink5	A	T	18: 44,153,908 (GRCm39)	*1018C	probably null	Het
Stag3	T	A	5: 138,294,956 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,569 (GRCm39)	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920 (GRCm39)	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Traf4	G	A	11: 78,052,346 (GRCm39)	Q100*	probably null	Het
Trpc4	A	G	3: 54,209,639 (GRCm39)	Y668C	probably damaging	Het
Ttn	T	A	2: 76,597,927 (GRCm39)	N11335I	possibly damaging	Het
Usp39	A	T	6: 72,302,665 (GRCm39)	V463E	probably benign	Het
Vmn1r6	A	C	6: 56,979,683 (GRCm39)	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,383,300 (GRCm39)	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668 (GRCm39)	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,771,503 (GRCm39)	I52T	possibly damaging	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
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
R5568:Abl1	UTSW	2	31,669,086 (GRCm39)	missense	probably damaging	1.00
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'- CAGAGTTGTCCCCTGTGTAC -3'
(R):5'- CAGAGGCAGTGTTGATCCTGTAG -3'

Sequencing Primer
(F):5'- TGTGTACTCCTGAGCAACAG -3'
(R):5'- CAGTGTTGATCCTGTAGTGGTAC -3'

Posted On

2016-03-01