Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Abl1'

567474

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

045409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31578388-31694239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31690604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 708 (S708P)

Ref Sequence

ENSEMBL: ENSMUSP00000075167 (fasta)

Gene Model

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

AlphaFold

P00520

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028190
AA Change: S689P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: S689P

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

possibly damaging
Transcript: ENSMUST00000075759
AA Change: S708P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: S708P

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: 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
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
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'- TCCTTCCGAGAGATGGATGG -3'
(R):5'- CTTTTGTGCCCTCCAAAGGTG -3'

Sequencing Primer
(F):5'- CAGACCGCAGAGGGGCTAG -3'
(R):5'- GATGAGTCAAACTGCTTGCC -3'

Posted On

2019-06-26