Incidental Mutation 'IGL01303:Tal1'
ID73322
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 #IGL01303
Quality Score
Status
Chromosome4
Chromosomal Location115056426-115071755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115068292 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 186 (V186A)
Ref Sequence ENSEMBL: ENSMUSP00000124983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030489] [ENSMUST00000136946] [ENSMUST00000161601] [ENSMUST00000162489]
Predicted Effect probably benign
Transcript: ENSMUST00000030489
AA Change: V186A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: V186A

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 benign
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 benign
Transcript: ENSMUST00000161601
AA Change: V186A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: V186A

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 benign
Transcript: ENSMUST00000162489
AA Change: V186A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: V186A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,194,331 T72A possibly damaging Het
Adamts7 A C 9: 90,171,734 I111L possibly damaging Het
Ankrd13a A T 5: 114,786,002 H53L possibly damaging Het
Becn1 T C 11: 101,294,985 D145G possibly damaging Het
Bod1l A G 5: 41,817,599 V2124A probably benign Het
Celsr1 C T 15: 86,030,491 A1094T probably damaging Het
Clstn2 A T 9: 97,483,075 Y459* probably null Het
Cnksr3 A G 10: 7,154,281 probably null Het
Cux2 A T 5: 121,865,928 F1048L probably benign Het
Cybrd1 A G 2: 71,129,706 K83E probably damaging Het
Dpp8 A T 9: 65,055,012 probably benign Het
Eef2 T A 10: 81,181,943 V813E possibly damaging Het
Eef2 A T 10: 81,181,982 probably null Het
Etnk1 T G 6: 143,180,666 I79S probably damaging Het
Fam151a A G 4: 106,747,593 N384S possibly damaging Het
Fam83c A G 2: 155,834,442 L136P probably damaging Het
Gfra2 G A 14: 70,895,852 V41I probably benign Het
Gm960 T C 19: 4,659,482 T318A possibly damaging Het
Mroh9 A G 1: 163,080,575 I2T probably benign Het
Muc2 A G 7: 141,752,395 I274V probably benign Het
Nacad T G 11: 6,598,279 E1456A possibly damaging Het
Npy4r T A 14: 34,146,657 I225F possibly damaging Het
Olfr401 T G 11: 74,121,334 F15C probably damaging Het
Pik3c2a T C 7: 116,373,803 D719G possibly damaging Het
Pparg G T 6: 115,472,954 V305L possibly damaging Het
Rictor A G 15: 6,708,638 N19D probably benign Het
Slc4a1 T C 11: 102,357,964 T292A probably benign Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Sorl1 A G 9: 42,024,478 probably benign Het
Trpm1 T A 7: 64,210,830 probably benign Het
Tyw5 A T 1: 57,388,553 Y297* probably null Het
Unc79 C A 12: 103,161,867 Q2131K possibly damaging Het
Other mutations in Tal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Tal1 APN 4 115063128 critical splice acceptor site probably null
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 On2013-10-07