Incidental Mutation 'R1428:Abl1'
ID 161380
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 039484-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R1428 (G1)
Quality Score 200
Status Validated
Chromosome 2
Chromosomal Location 31578388-31694239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31691822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1114 (A1114S)
Ref Sequence ENSEMBL: ENSMUSP00000075167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028190] [ENSMUST00000057407] [ENSMUST00000075759] [ENSMUST00000142554]
AlphaFold P00520
Predicted Effect probably damaging
Transcript: ENSMUST00000028190
AA Change: A1095S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: A1095S

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 damaging
Transcript: ENSMUST00000075759
AA Change: A1114S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: A1114S

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 0.2493 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
Acbd5 T C 2: 22,989,733 (GRCm39) V452A probably damaging Het
Armc12 A G 17: 28,756,910 (GRCm39) D225G probably damaging Het
Atad3a T A 4: 155,840,139 (GRCm39) Q121H probably damaging Het
Atosa A T 9: 74,913,603 (GRCm39) T79S probably benign Het
Bptf T A 11: 106,963,873 (GRCm39) I1711F probably damaging Het
C2cd4c A T 10: 79,448,064 (GRCm39) I361N probably damaging Het
Canx A G 11: 50,199,221 (GRCm39) probably benign Het
Ccdc127 C T 13: 74,505,034 (GRCm39) T194I probably benign Het
Cdc42ep3 T C 17: 79,642,465 (GRCm39) K152E probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cnbd2 T C 2: 156,181,204 (GRCm39) probably null Het
Cplane1 T A 15: 8,248,853 (GRCm39) Y1801N possibly damaging Het
Crybg1 T C 10: 43,851,074 (GRCm39) N1599S probably benign Het
Cyc1 T C 15: 76,228,548 (GRCm39) V59A probably benign Het
Cyp2j11 T C 4: 96,183,117 (GRCm39) K484E probably benign Het
Ddx60 T C 8: 62,411,193 (GRCm39) probably benign Het
Epg5 T C 18: 78,005,642 (GRCm39) S711P probably damaging Het
Espl1 A T 15: 102,214,120 (GRCm39) Q649L probably benign Het
Eya1 G A 1: 14,374,638 (GRCm39) probably benign Het
Fat2 T A 11: 55,186,913 (GRCm39) Y1311F probably damaging Het
Garin5b T A 7: 4,760,687 (GRCm39) H675L possibly damaging Het
Gins4 T C 8: 23,717,144 (GRCm39) Y208C probably damaging Het
Gsk3b T C 16: 37,910,937 (GRCm39) V17A probably benign Het
Gykl1 A T 18: 52,827,833 (GRCm39) K347I probably benign Het
Helz T A 11: 107,483,666 (GRCm39) probably benign Het
Hivep3 C T 4: 119,953,772 (GRCm39) T696I possibly damaging Het
Ifi27l2a G T 12: 103,409,093 (GRCm39) probably benign Het
Kif13a A G 13: 46,944,987 (GRCm39) probably benign Het
Kpna3 C T 14: 61,620,669 (GRCm39) probably benign Het
Mmp15 C G 8: 96,096,190 (GRCm39) P327R probably benign Het
Mrc1 A T 2: 14,320,074 (GRCm39) T1003S probably benign Het
Mtss1 T C 15: 58,819,239 (GRCm39) D393G probably benign Het
Olfm4 T A 14: 80,258,843 (GRCm39) Y331N probably damaging Het
Or10a49 T A 7: 108,468,167 (GRCm39) N65Y probably damaging Het
Or4c12b G C 2: 89,646,725 (GRCm39) L12F probably damaging Het
P2rx3 G C 2: 84,855,294 (GRCm39) T54R possibly damaging Het
Pacsin1 C T 17: 27,924,937 (GRCm39) T217I probably damaging Het
Phlpp1 A G 1: 106,308,155 (GRCm39) probably null Het
Pknox1 T C 17: 31,811,066 (GRCm39) probably benign Het
Plb1 A G 5: 32,422,256 (GRCm39) R70G possibly damaging Het
Rab3gap2 G A 1: 184,980,101 (GRCm39) A340T probably damaging Het
Rnf103 T A 6: 71,485,983 (GRCm39) W205R probably damaging Het
Rps6kc1 G A 1: 190,530,923 (GRCm39) T936M probably damaging Het
Spef2 T C 15: 9,596,793 (GRCm39) probably benign Het
Sstr4 A G 2: 148,238,279 (GRCm39) S297G probably benign Het
Timm8a1 C T X: 133,438,872 (GRCm39) E93K probably benign Het
Uck1 A C 2: 32,148,367 (GRCm39) Y150D probably damaging Het
Yipf4 A G 17: 74,805,300 (GRCm39) 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
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
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'- ATCTCCCGGAACTCAGAGCAGATG -3'
(R):5'- AGGCAGGCCAGATGTAGTCTTCAG -3'

Sequencing Primer
(F):5'- TGTGGACTCTATCCAGCAGA -3'
(R):5'- CCAGATGTAGTCTTCAGAGCAG -3'
Posted On 2014-03-14