Incidental Mutation 'IGL01614:Tal1'
ID92337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tal1
Ensembl Gene ENSMUSG00000028717
Gene NameT cell acute lymphocytic leukemia 1
SynonymsSCL/tal-1, Hpt, bHLHa17, Scl
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01614
Quality Score
Status
Chromosome4
Chromosomal Location115056426-115071755 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to C at 115063128 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030489] [ENSMUST00000030489] [ENSMUST00000136946] [ENSMUST00000136946] [ENSMUST00000161601] [ENSMUST00000161601] [ENSMUST00000162489] [ENSMUST00000162489]
Predicted Effect probably null
Transcript: ENSMUST00000030489
SMART Domains Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717

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 null
Transcript: ENSMUST00000030489
SMART Domains Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717

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 null
Transcript: ENSMUST00000136946
SMART Domains Protein: ENSMUSP00000121437
Gene: ENSMUSG00000028717

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
Predicted Effect probably null
Transcript: ENSMUST00000136946
SMART Domains Protein: ENSMUSP00000121437
Gene: ENSMUSG00000028717

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
Predicted Effect probably null
Transcript: ENSMUST00000161601
SMART Domains Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717

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 null
Transcript: ENSMUST00000161601
SMART Domains Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717

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 null
Transcript: ENSMUST00000162489
SMART Domains Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717

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 null
Transcript: ENSMUST00000162489
SMART Domains Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Tal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Tal1 APN 4 115068292 missense probably benign 0.28
R0045:Tal1 UTSW 4 115068565 missense probably damaging 1.00
R0755:Tal1 UTSW 4 115068376 missense probably damaging 1.00
R1160:Tal1 UTSW 4 115068616 missense probably damaging 1.00
R4581:Tal1 UTSW 4 115064722 missense probably damaging 0.99
R5457:Tal1 UTSW 4 115068580 missense probably benign 0.05
R6636:Tal1 UTSW 4 115068592 missense probably damaging 0.99
R6637:Tal1 UTSW 4 115068592 missense probably damaging 0.99
R6844:Tal1 UTSW 4 115063267 missense probably benign
R7188:Tal1 UTSW 4 115068413 missense probably damaging 1.00
R7498:Tal1 UTSW 4 115068682 missense possibly damaging 0.84
R7808:Tal1 UTSW 4 115068292 missense probably benign 0.28
R8356:Tal1 UTSW 4 115063428 missense probably benign 0.05
Posted On2013-12-09