Incidental Mutation 'IGL02650:Tctex1d1'
ID 302120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tctex1d1
Ensembl Gene ENSMUSG00000028523
Gene Name Tctex1 domain containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02650
Quality Score
Status
Chromosome 4
Chromosomal Location 102978606-103005594 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102988606 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 12 (Q12K)
Ref Sequence ENSEMBL: ENSMUSP00000128228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030248] [ENSMUST00000116317] [ENSMUST00000125417] [ENSMUST00000140654] [ENSMUST00000169211] [ENSMUST00000220547] [ENSMUST00000223169]
AlphaFold Q9D5I4
Predicted Effect probably benign
Transcript: ENSMUST00000030248
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030248
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 74 171 9.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116317
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112019
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 72 172 7.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125417
SMART Domains Protein: ENSMUSP00000117319
Gene: ENSMUSG00000028523

DomainStartEndE-ValueType
Pfam:Tctex-1 17 114 4.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139883
Predicted Effect probably benign
Transcript: ENSMUST00000140654
SMART Domains Protein: ENSMUSP00000116692
Gene: ENSMUSG00000028523

DomainStartEndE-ValueType
Pfam:Tctex-1 15 99 4.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149348
Predicted Effect probably benign
Transcript: ENSMUST00000169211
AA Change: Q12K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128228
Gene: ENSMUSG00000028523
AA Change: Q12K

DomainStartEndE-ValueType
Pfam:Tctex-1 15 115 3.3e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220547
Predicted Effect probably benign
Transcript: ENSMUST00000223169
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,741,537 T586A probably benign Het
Acads G T 5: 115,112,815 T141N probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dis3 A T 14: 99,098,785 M95K probably benign Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm3252 T A 14: 4,746,353 V215E probably damaging Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Mapre3 T A 5: 30,864,709 I187N probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Parp16 G A 9: 65,233,816 V223I probably damaging Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Tctex1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Tctex1d1 APN 4 102992572 missense probably damaging 1.00
IGL03022:Tctex1d1 APN 4 103002517 missense probably benign 0.00
R0127:Tctex1d1 UTSW 4 103002452 splice site probably benign
R0685:Tctex1d1 UTSW 4 103002538 missense probably damaging 1.00
R4695:Tctex1d1 UTSW 4 103004229 missense probably damaging 0.98
R5274:Tctex1d1 UTSW 4 103002571 missense possibly damaging 0.85
R5433:Tctex1d1 UTSW 4 103002503 missense possibly damaging 0.75
R5950:Tctex1d1 UTSW 4 103004250 missense probably damaging 1.00
R6196:Tctex1d1 UTSW 4 102992569 missense possibly damaging 0.89
R6245:Tctex1d1 UTSW 4 102988667 missense probably benign 0.02
R9270:Tctex1d1 UTSW 4 102988758 splice site probably null
Posted On 2015-04-16