Incidental Mutation 'R7802:Abl1'
ID 600559
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 045857-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R7802 (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 C at 31650438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000117748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028190] [ENSMUST00000075759] [ENSMUST00000123471] [ENSMUST00000124089] [ENSMUST00000135233] [ENSMUST00000142554]
AlphaFold P00520
Predicted Effect probably benign
Transcript: ENSMUST00000028190
SMART Domains Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842

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: 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: ENSMUST00000124089
AA Change: V12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117748
Gene: ENSMUSG00000026842
AA Change: V12A

DomainStartEndE-ValueType
SH3 59 114 1.14e-11 SMART
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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (35/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 T C 11: 120,165,518 (GRCm39) F983S probably benign Het
Cecr2 T C 6: 120,720,808 (GRCm39) I312T probably benign Het
Col6a2 A T 10: 76,439,632 (GRCm39) W711R probably damaging Het
Epb41l4a A G 18: 33,961,227 (GRCm39) F436L probably benign Het
Epha1 C T 6: 42,338,875 (GRCm39) R641Q possibly damaging Het
Ercc6 C A 14: 32,239,260 (GRCm39) A116E probably damaging Het
Ermard A G 17: 15,281,423 (GRCm39) E611G probably benign Het
Galnt16 T G 12: 80,628,021 (GRCm39) I239S probably damaging Het
Gna15 T C 10: 81,350,175 (GRCm39) R76G probably benign Het
Herc2 A G 7: 55,813,838 (GRCm39) Y2657C probably damaging Het
Mapkapk2 T C 1: 130,984,639 (GRCm39) I238V possibly damaging Het
Med13l T C 5: 118,866,655 (GRCm39) S570P probably benign Het
Mrap C T 16: 90,546,247 (GRCm39) T112M probably benign Het
Nadsyn1 T C 7: 143,359,763 (GRCm39) Q403R probably benign Het
Nostrin T C 2: 69,019,356 (GRCm39) V467A probably benign Het
Palb2 A T 7: 121,710,119 (GRCm39) probably null Het
Parp16 A G 9: 65,137,179 (GRCm39) N135S probably benign Het
Pcnt A T 10: 76,211,137 (GRCm39) probably null Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Psmc5 T C 11: 106,152,538 (GRCm39) probably null Het
Rsf1 G T 7: 97,310,979 (GRCm39) V570F Het
Rundc3a A G 11: 102,290,835 (GRCm39) E306G probably benign Het
Serpinb6b C T 13: 33,155,579 (GRCm39) Het
Setx A G 2: 29,037,033 (GRCm39) T1173A probably benign Het
Slamf8 A G 1: 172,415,677 (GRCm39) S54P probably damaging Het
Slc5a2 A C 7: 127,870,970 (GRCm39) D570A possibly damaging Het
Slco5a1 T A 1: 13,060,700 (GRCm39) Q7L possibly damaging Het
Stt3b G T 9: 115,105,949 (GRCm39) S175R probably damaging Het
Taar6 T A 10: 23,861,151 (GRCm39) I132F probably benign Het
Tenm3 A G 8: 48,689,500 (GRCm39) V2029A probably damaging Het
Tgm4 A G 9: 122,880,401 (GRCm39) probably benign Het
Tmt1a A T 15: 100,203,182 (GRCm39) N152I possibly damaging Het
Togaram1 T A 12: 65,013,758 (GRCm39) C336* probably null Het
Ttn G A 2: 76,768,015 (GRCm39) T3028M unknown Het
Vmn2r25 A T 6: 123,828,791 (GRCm39) I161N possibly damaging Het
Vwf T C 6: 125,643,640 (GRCm39) C2394R 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
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'- TCATTCGGACTTCCAGAAAGAGAG -3'
(R):5'- AACAAAACATGAGGGGCTCC -3'

Sequencing Primer
(F):5'- CTTCCAGAAAGAGAGAGAGAGCC -3'
(R):5'- GGGCTCCCTCACCAAGCATC -3'
Posted On 2019-11-26