Incidental Mutation 'R1160:Tal1'
ID 100300
Institutional Source Beutler Lab
Gene Symbol Tal1
Ensembl Gene ENSMUSG00000028717
Gene Name T cell acute lymphocytic leukemia 1
Synonyms Hpt, SCL/tal-1, bHLHa17, Scl
MMRRC Submission 039233-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1160 (G1)
Quality Score 154
Status Not validated
Chromosome 4
Chromosomal Location 114913623-114928952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114925813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 294 (D294V)
Ref Sequence ENSEMBL: ENSMUSP00000124983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030489] [ENSMUST00000161601] [ENSMUST00000162489]
AlphaFold P22091
Predicted Effect probably damaging
Transcript: ENSMUST00000030489
AA Change: D294V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: D294V

DomainStartEndE-ValueType
low complexity region 55 72 N/A INTRINSIC
low complexity region 96 110 N/A INTRINSIC
low complexity region 121 137 N/A INTRINSIC
HLH 193 245 2.85e-19 SMART
low complexity region 263 272 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161601
AA Change: D294V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: D294V

DomainStartEndE-ValueType
low complexity region 55 72 N/A INTRINSIC
low complexity region 96 110 N/A INTRINSIC
low complexity region 121 137 N/A INTRINSIC
HLH 193 245 2.85e-19 SMART
low complexity region 263 272 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162489
AA Change: D294V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: D294V

DomainStartEndE-ValueType
low complexity region 55 72 N/A INTRINSIC
low complexity region 96 110 N/A INTRINSIC
low complexity region 121 137 N/A INTRINSIC
HLH 193 245 2.85e-19 SMART
low complexity region 263 272 N/A INTRINSIC
low complexity region 317 328 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous targeted null mutants show retarded growth, edema, lack yolk sac hematopoiesis and die at embryonic day 9.5-10.5. Conditional mutants show loss of megakaryocyte and erhythrocyte progenitors resulting in low hematocrit and platelet count. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G T 1: 89,770,876 (GRCm39) K622N probably damaging Het
Ap3b2 A T 7: 81,115,917 (GRCm39) probably null Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
Astn1 T C 1: 158,427,935 (GRCm39) V702A possibly damaging Het
Bach1 T C 16: 87,512,322 (GRCm39) V15A probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccar2 C T 14: 70,377,218 (GRCm39) V774M probably benign Het
Dcaf5 T C 12: 80,386,989 (GRCm39) D379G possibly damaging Het
Dcpp1 T A 17: 24,100,405 (GRCm39) I45K possibly damaging Het
Ddx17 T A 15: 79,425,288 (GRCm39) S128C probably damaging Het
Eml3 A G 19: 8,910,614 (GRCm39) N192S probably benign Het
Epha3 T G 16: 63,593,431 (GRCm39) D219A probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Khdc4 C A 3: 88,616,169 (GRCm39) P452Q probably damaging Het
Klhl5 A G 5: 65,298,683 (GRCm39) N154S probably benign Het
Lrif1 A G 3: 106,640,033 (GRCm39) N373D possibly damaging Het
Map3k20 A G 2: 72,271,864 (GRCm39) N664S probably benign Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pglyrp4 T A 3: 90,636,138 (GRCm39) probably null Het
Pole A G 5: 110,443,119 (GRCm39) E349G possibly damaging Het
Ptprj A G 2: 90,274,868 (GRCm39) Y1165H probably damaging Het
Rasd1 T A 11: 59,855,547 (GRCm39) I29F possibly damaging Het
Scamp3 T C 3: 89,088,505 (GRCm39) F237S probably damaging Het
Sccpdh T G 1: 179,511,775 (GRCm39) D82E probably benign Het
Slc19a3 A C 1: 83,000,413 (GRCm39) H201Q possibly damaging Het
Slc5a4a G A 10: 76,013,995 (GRCm39) A401T possibly damaging Het
Snupn T G 9: 56,864,389 (GRCm39) C29W probably benign Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sox17 A T 1: 4,562,075 (GRCm39) V310E probably damaging Het
Srgap1 T A 10: 121,691,382 (GRCm39) Y284F probably benign Het
Srpk1 C A 17: 28,818,748 (GRCm39) V363F probably benign Het
Syt13 T A 2: 92,773,387 (GRCm39) probably null Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tbl2 A G 5: 135,188,246 (GRCm39) T347A probably benign Het
Tet3 A G 6: 83,381,434 (GRCm39) S110P probably benign Het
Tmem132a A G 19: 10,835,938 (GRCm39) V864A probably damaging Het
Trak1 T C 9: 121,221,073 (GRCm39) I80T probably benign Het
Trappc6b G A 12: 59,097,064 (GRCm39) T86I probably damaging Het
Usf3 T A 16: 44,038,910 (GRCm39) I1130N probably damaging Het
Xirp2 T C 2: 67,340,231 (GRCm39) V824A possibly damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,936 (GRCm39) V685E probably damaging Het
Zp2 A T 7: 119,735,268 (GRCm39) D368E probably damaging Het
Other mutations in Tal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Tal1 APN 4 114,925,489 (GRCm39) missense probably benign 0.28
IGL01614:Tal1 APN 4 114,920,325 (GRCm39) critical splice acceptor site probably null
R0045:Tal1 UTSW 4 114,925,762 (GRCm39) missense probably damaging 1.00
R0755:Tal1 UTSW 4 114,925,573 (GRCm39) missense probably damaging 1.00
R4581:Tal1 UTSW 4 114,921,919 (GRCm39) missense probably damaging 0.99
R5457:Tal1 UTSW 4 114,925,777 (GRCm39) missense probably benign 0.05
R6636:Tal1 UTSW 4 114,925,789 (GRCm39) missense probably damaging 0.99
R6637:Tal1 UTSW 4 114,925,789 (GRCm39) missense probably damaging 0.99
R6844:Tal1 UTSW 4 114,920,464 (GRCm39) missense probably benign
R7188:Tal1 UTSW 4 114,925,610 (GRCm39) missense probably damaging 1.00
R7498:Tal1 UTSW 4 114,925,879 (GRCm39) missense possibly damaging 0.84
R7808:Tal1 UTSW 4 114,925,489 (GRCm39) missense probably benign 0.28
R8356:Tal1 UTSW 4 114,920,625 (GRCm39) missense probably benign 0.05
R8456:Tal1 UTSW 4 114,920,625 (GRCm39) missense probably benign 0.05
R9164:Tal1 UTSW 4 114,920,646 (GRCm39) missense probably benign
R9745:Tal1 UTSW 4 114,920,557 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-01-15