Incidental Mutation 'R6492:Abl1'
ID 522921
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 044624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R6492 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 31578388-31694239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31691667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1062 (M1062K)
Ref Sequence ENSEMBL: ENSMUSP00000075167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028190] [ENSMUST00000057407] [ENSMUST00000075759] [ENSMUST00000142554]
AlphaFold P00520
Predicted Effect probably benign
Transcript: ENSMUST00000028190
AA Change: M1043K

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: M1043K

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000057407
SMART Domains Protein: ENSMUSP00000055746
Gene: ENSMUSG00000043102

DomainStartEndE-ValueType
Pfam:RFamide_26RFa 4 124 1.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075759
AA Change: M1062K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: M1062K

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 noncoding transcript
Transcript: ENSMUST00000124726
Predicted Effect probably benign
Transcript: ENSMUST00000142554
SMART Domains Protein: ENSMUSP00000142123
Gene: ENSMUSG00000026842

DomainStartEndE-ValueType
PDB:1OPL|B 1 47 2e-27 PDB
Meta Mutation Damage Score 0.1817 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,631,464 (GRCm39) T587I probably benign Het
Agbl4 G A 4: 111,404,469 (GRCm39) D272N probably damaging Het
Apob A T 12: 8,058,261 (GRCm39) I2215F probably damaging Het
Atp10b A T 11: 43,109,784 (GRCm39) Q821H probably damaging Het
Atp1a3 T C 7: 24,678,729 (GRCm39) Y971C probably damaging Het
Atp6ap1l A T 13: 91,031,841 (GRCm39) H280Q probably damaging Het
B4galt2 A T 4: 117,734,164 (GRCm39) M291K probably damaging Het
Cachd1 G T 4: 100,809,315 (GRCm39) V267F possibly damaging Het
Cadm2 G T 16: 66,581,715 (GRCm39) L188M probably damaging Het
Ccn6 C T 10: 39,030,983 (GRCm39) G180D probably benign Het
Ceacam19 T C 7: 19,616,517 (GRCm39) N199S probably benign Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Cluap1 T A 16: 3,746,476 (GRCm39) M279K probably benign Het
Cngb1 T A 8: 95,991,052 (GRCm39) M717L probably benign Het
Cp T C 3: 20,036,186 (GRCm39) V777A probably benign Het
Drosha A G 15: 12,861,792 (GRCm39) D594G probably benign Het
Exo5 A G 4: 120,778,734 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gprc5b A G 7: 118,583,800 (GRCm39) I23T possibly damaging Het
Ikbke T C 1: 131,186,955 (GRCm39) Y579C probably damaging Het
Ikzf2 T C 1: 69,578,201 (GRCm39) Y362C probably damaging Het
Itfg1 A G 8: 86,466,978 (GRCm39) V365A probably benign Het
Josd2 T C 7: 44,120,578 (GRCm39) I105T probably damaging Het
Mc3r G A 2: 172,091,074 (GRCm39) A99T possibly damaging Het
Mettl22 T A 16: 8,306,755 (GRCm39) probably null Het
Mgat5 A G 1: 127,399,301 (GRCm39) I619V probably benign Het
Nin T C 12: 70,101,308 (GRCm39) I430V probably benign Het
Or52n2c C A 7: 104,574,852 (GRCm39) A40S possibly damaging Het
Or5au1 A G 14: 52,272,902 (GRCm39) F222S probably benign Het
Or5j3 T C 2: 86,128,990 (GRCm39) F277L probably benign Het
Or5w22 C G 2: 87,363,085 (GRCm39) A236G possibly damaging Het
Or8k3 T A 2: 86,058,731 (GRCm39) I195F possibly damaging Het
Parvb T C 15: 84,188,073 (GRCm39) L272P probably damaging Het
Pde2a A G 7: 101,149,649 (GRCm39) K180E possibly damaging Het
Pik3c3 C T 18: 30,457,615 (GRCm39) T736M probably damaging Het
Plcb4 C T 2: 135,814,991 (GRCm39) R760* probably null Het
Pramel6 C T 2: 87,340,766 (GRCm39) T366I probably benign Het
Prr29 C T 11: 106,266,062 (GRCm39) R42W probably damaging Het
Prss12 A G 3: 123,241,048 (GRCm39) I81V probably benign Het
Ptpn13 A G 5: 103,649,478 (GRCm39) T294A probably benign Het
Ptprc A T 1: 138,041,300 (GRCm39) probably null Het
Sin3b T A 8: 73,460,118 (GRCm39) probably null Het
Slco5a1 T C 1: 13,060,151 (GRCm39) Y190C probably damaging Het
Slco6c1 T G 1: 97,053,538 (GRCm39) Y121S probably damaging Het
Srcap G T 7: 127,121,317 (GRCm39) G217* probably null Het
Ss18 A T 18: 14,784,145 (GRCm39) M181K probably damaging Het
Synm T C 7: 67,385,809 (GRCm39) T176A probably benign Het
Taf3 T C 2: 9,955,971 (GRCm39) E579G probably damaging Het
Taf7 A G 18: 37,776,159 (GRCm39) I136T probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tyrp1 A G 4: 80,759,018 (GRCm39) D297G probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Wwp1 G A 4: 19,650,299 (GRCm39) S289L possibly damaging Het
Xbp1 T C 11: 5,471,005 (GRCm39) V4A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zbtb2 T C 10: 4,319,711 (GRCm39) Y105C probably damaging Het
Zeb2 T C 2: 45,000,508 (GRCm39) probably benign Het
Zkscan8 A T 13: 21,709,397 (GRCm39) I167N 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
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'- AGGACTGAGAAAGCCTGTGC -3'
(R):5'- TCTCCTTCACAGAGCTGAGC -3'

Sequencing Primer
(F):5'- TCTGTGCCAAAGCCCCAGTC -3'
(R):5'- GCAGCTTGCTGAAGTCTTG -3'
Posted On 2018-06-06