Incidental Mutation 'IGL02367:Tcea1'
ID290793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcea1
Ensembl Gene ENSMUSG00000033813
Gene Nametranscription elongation factor A (SII) 1
SynonymsS-II
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02367
Quality Score
Status
Chromosome1
Chromosomal Location4857814-4897909 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 4878133 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081551] [ENSMUST00000155020] [ENSMUST00000165720]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000078030
SMART Domains Protein: ENSMUSP00000132612
Gene: ENSMUSG00000062588

DomainStartEndE-ValueType
HMG 8 80 1.72e-25 SMART
HMG 92 162 3.57e-32 SMART
coiled coil region 173 200 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000081551
SMART Domains Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813

DomainStartEndE-ValueType
TFS2N 5 79 2.56e-31 SMART
low complexity region 83 93 N/A INTRINSIC
low complexity region 100 115 N/A INTRINSIC
TFS2M 138 239 1.32e-44 SMART
ZnF_C2C2 261 300 3.6e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155020
SMART Domains Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165720
SMART Domains Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813

DomainStartEndE-ValueType
Pfam:Med26 38 88 1.1e-18 PFAM
low complexity region 94 104 N/A INTRINSIC
low complexity region 111 126 N/A INTRINSIC
TFS2M 149 250 1.32e-44 SMART
ZnF_C2C2 272 311 3.6e-21 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display impaired definitive erythropoiesis with loss of late stage erythroblasts, fetal liver hypoplasia, and embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 82,065,547 L1215P probably benign Het
Angptl7 T C 4: 148,500,144 N49S possibly damaging Het
Asns A G 6: 7,685,411 probably benign Het
Atr T A 9: 95,899,141 Y1419* probably null Het
Bptf A T 11: 107,073,352 I1672N probably benign Het
Chd1 A G 17: 17,390,053 T490A probably damaging Het
Cyfip2 A T 11: 46,276,905 C223* probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnah12 T C 14: 26,709,161 V308A probably benign Het
Dync2h1 A G 9: 7,158,926 V703A probably damaging Het
Fgd3 A G 13: 49,287,326 F210L probably damaging Het
Gm10020 T C 15: 52,477,972 noncoding transcript Het
Gm6526 T G 14: 43,750,805 V171G probably damaging Het
Grin3a A G 4: 49,702,805 Y894H probably damaging Het
Grm3 C A 5: 9,511,660 C730F probably damaging Het
Habp4 C A 13: 64,174,091 P181T probably damaging Het
Hdac4 A G 1: 91,958,449 probably benign Het
Ints5 A G 19: 8,895,595 D306G probably benign Het
Mb21d1 G A 9: 78,434,385 T370I probably benign Het
Mid2 T A X: 140,736,496 I273N probably damaging Het
Ndufs2 A T 1: 171,239,365 Y114* probably null Het
Neu4 G T 1: 94,024,491 R194L probably damaging Het
Ntng1 A T 3: 110,135,513 probably null Het
Nub1 A G 5: 24,689,394 M1V probably null Het
Olfml2a A G 2: 38,954,668 T379A probably benign Het
Olfr311 A T 11: 58,841,512 I133F probably benign Het
Pex3 G T 10: 13,524,899 Q303K probably benign Het
Pmp2 A T 3: 10,182,500 I43N probably damaging Het
Pnliprp1 T A 19: 58,738,169 D319E probably benign Het
Rap1gap2 A T 11: 74,397,355 probably null Het
Rwdd3 A G 3: 121,159,030 V104A probably damaging Het
Sbf1 A T 15: 89,307,572 V157E probably damaging Het
Slc4a11 T A 2: 130,684,959 I750F probably damaging Het
Ush2a A T 1: 188,784,746 M3218L probably benign Het
Utp20 G A 10: 88,771,853 probably benign Het
Zfp493 T A 13: 67,786,970 Y347* probably null Het
Zswim6 T C 13: 107,744,102 noncoding transcript Het
Other mutations in Tcea1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Tcea1 APN 1 4896347 splice site probably benign
IGL02361:Tcea1 APN 1 4896347 splice site probably benign
IGL02813:Tcea1 APN 1 4886756 missense probably benign 0.06
R0403:Tcea1 UTSW 1 4889503 missense probably benign
R0707:Tcea1 UTSW 1 4880346 intron probably benign
R1157:Tcea1 UTSW 1 4889447 splice site probably null
R3702:Tcea1 UTSW 1 4894935 missense probably benign 0.06
R4541:Tcea1 UTSW 1 4893436 missense probably damaging 1.00
R4764:Tcea1 UTSW 1 4894944 missense probably damaging 1.00
R5428:Tcea1 UTSW 1 4880345 intron probably benign
R6005:Tcea1 UTSW 1 4890773 missense probably benign 0.03
R6661:Tcea1 UTSW 1 4858429 intron probably benign
R6792:Tcea1 UTSW 1 4892045 missense probably benign 0.00
R7215:Tcea1 UTSW 1 4867483 missense probably damaging 0.98
Posted On2015-04-16