Incidental Mutation 'R7941:Abl1'
ID 649037
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 045987-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R7941 (G1)
Quality Score 213.009
Status Validated
Chromosome 2
Chromosomal Location 31578388-31694239 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 31579691 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:1OPL|B 1 64 3e-39 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000135233
SMART Domains Protein: ENSMUSP00000141320
Gene: ENSMUSG00000026842

DomainStartEndE-ValueType
PDB:1OPL|B 1 51 2e-28 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000142554
SMART Domains Protein: ENSMUSP00000142123
Gene: ENSMUSG00000026842

DomainStartEndE-ValueType
PDB:1OPL|B 1 47 2e-27 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (43/44)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI467606 A G 7: 126,691,593 (GRCm39) E56G probably damaging Het
Ak9 C T 10: 41,285,133 (GRCm39) P1403S unknown Het
Akr1c14 A G 13: 4,109,713 (GRCm39) K28E probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Anks1b A T 10: 90,413,017 (GRCm39) N55I probably damaging Het
Cabyr T C 18: 12,877,825 (GRCm39) L54P probably damaging Het
Cachd1 A T 4: 100,845,370 (GRCm39) N954I probably damaging Het
Cenpf A G 1: 189,389,483 (GRCm39) S1450P probably damaging Het
Chst10 T A 1: 38,910,772 (GRCm39) I131L probably damaging Het
Cluh A T 11: 74,550,583 (GRCm39) M270L probably benign Het
Dagla T C 19: 10,248,867 (GRCm39) H29R probably damaging Het
Dusp5 A G 19: 53,525,964 (GRCm39) N202S probably benign Het
Elavl3 A G 9: 21,947,612 (GRCm39) I110T possibly damaging Het
Fam222b G T 11: 78,045,885 (GRCm39) G482V possibly damaging Het
Fbxl7 A G 15: 26,543,699 (GRCm39) L316P probably damaging Het
Gad1 T A 2: 70,424,929 (GRCm39) probably null Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hmcn1 A G 1: 150,525,835 (GRCm39) V3296A possibly damaging Het
Hyal1 T C 9: 107,455,299 (GRCm39) F203S probably damaging Het
Il16 T A 7: 83,332,037 (GRCm39) D181V probably damaging Het
Ip6k1 T C 9: 107,901,631 (GRCm39) F69L probably damaging Het
Klf4 G A 4: 55,531,755 (GRCm39) probably benign Het
Lsr T G 7: 30,672,520 (GRCm39) I27L probably benign Het
Mettl4 A T 17: 95,040,622 (GRCm39) probably null Het
Mpdz A G 4: 81,200,987 (GRCm39) V1902A probably benign Het
Nfkbiz C T 16: 55,642,307 (GRCm39) G37D probably damaging Het
Or5w11 T C 2: 87,459,248 (GRCm39) V31A probably benign Het
Otogl A T 10: 107,642,663 (GRCm39) probably null Het
Pcdh1 T C 18: 38,332,133 (GRCm39) D429G probably damaging Het
Pramel34 A T 5: 93,785,887 (GRCm39) V131D probably benign Het
Prelid2 A T 18: 42,065,816 (GRCm39) L73* probably null Het
Psg20 T A 7: 18,415,102 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rab24 C T 13: 55,468,120 (GRCm39) probably null Het
Rag1 T G 2: 101,472,691 (GRCm39) K817T probably benign Het
Rgl2 T C 17: 34,150,713 (GRCm39) V57A probably benign Het
Ric1 T C 19: 29,510,659 (GRCm39) M80T probably damaging Het
Sh3rf3 T C 10: 58,842,883 (GRCm39) I283T probably damaging Het
Skint2 C A 4: 112,483,187 (GRCm39) N197K probably damaging Het
Snapc4 A G 2: 26,266,730 (GRCm39) I126T probably damaging Het
Srcap GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT 7: 127,157,462 (GRCm39) probably benign Het
Svip T C 7: 51,653,161 (GRCm39) K51R probably benign Het
Syndig1 T A 2: 149,741,708 (GRCm39) V98E probably benign Het
Tshz1 A T 18: 84,033,517 (GRCm39) M297K possibly damaging Het
Ttn A G 2: 76,749,694 (GRCm39) V3785A probably benign Het
Usf3 T C 16: 44,035,924 (GRCm39) S135P probably damaging Het
Vmn2r10 A T 5: 109,144,306 (GRCm39) M548K probably damaging Het
Vmn2r92 T C 17: 18,405,099 (GRCm39) S748P possibly damaging Het
Zbtb39 A G 10: 127,579,409 (GRCm39) Y661C probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T probably benign Het
Zscan4-ps2 A G 7: 11,251,599 (GRCm39) I212V probably benign Het
Other mutations in Abl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATGACTTTCAGTGCCGTTGG -3'
(R):5'- AAACTAGGCCTTCTTTGGTCCC -3'

Sequencing Primer
(F):5'- GTTCCCCTCTTGCAAAGAAAGTG -3'
(R):5'- GGTCCCCAAGAACTTTTCCAGG -3'
Posted On 2020-09-15