Incidental Mutation 'IGL00467:Tex9'
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ID4850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex9
Ensembl Gene ENSMUSG00000090626
Gene Nametestis expressed gene 9
Synonymstsec-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL00467
Quality Score
Status
Chromosome9
Chromosomal Location72450394-72492212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72477835 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
Ref Sequence ENSEMBL: ENSMUSP00000139212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085358] [ENSMUST00000183574] [ENSMUST00000183856] [ENSMUST00000184125] [ENSMUST00000184312] [ENSMUST00000184557] [ENSMUST00000184831] [ENSMUST00000185151]
Predicted Effect probably benign
Transcript: ENSMUST00000085358
AA Change: T41A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
AA Change: T41A

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
coiled coil region 186 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183399
Predicted Effect probably benign
Transcript: ENSMUST00000183428
Predicted Effect probably benign
Transcript: ENSMUST00000183501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183551
Predicted Effect probably benign
Transcript: ENSMUST00000183574
SMART Domains Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
coiled coil region 186 208 N/A INTRINSIC
coiled coil region 231 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183856
AA Change: T240A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
AA Change: T240A

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
coiled coil region 186 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184066
Predicted Effect probably benign
Transcript: ENSMUST00000184125
AA Change: T240A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
AA Change: T240A

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
coiled coil region 186 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184312
SMART Domains Protein: ENSMUSP00000138844
Gene: ENSMUSG00000090626

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184557
AA Change: T240A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
AA Change: T240A

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
coiled coil region 186 280 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184734
Predicted Effect probably benign
Transcript: ENSMUST00000184831
AA Change: T55A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
AA Change: T55A

DomainStartEndE-ValueType
coiled coil region 1 159 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185106
Predicted Effect probably benign
Transcript: ENSMUST00000185151
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Glipr1l1 A G 10: 112,078,381 T216A probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Nfu1 A G 6: 87,020,773 M213V possibly damaging Het
Pam A T 1: 97,924,427 probably benign Het
Pcca A T 14: 122,582,629 M62L probably benign Het
Phf6 A G X: 52,931,646 Y25C probably damaging Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Trim60 T C 8: 65,000,719 T293A possibly damaging Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Tex9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Tex9 APN 9 72488067 missense probably damaging 1.00
IGL01373:Tex9 APN 9 72480754 missense possibly damaging 0.78
IGL02496:Tex9 APN 9 72482492 missense probably benign 0.25
IGL02569:Tex9 APN 9 72478363 missense probably damaging 1.00
barbacoa UTSW 9 72486778 critical splice donor site probably null
R0068:Tex9 UTSW 9 72486769 splice site probably benign
R0481:Tex9 UTSW 9 72478396 nonsense probably null
R0628:Tex9 UTSW 9 72491951 start codon destroyed probably null 0.99
R0962:Tex9 UTSW 9 72484092 missense probably benign
R2212:Tex9 UTSW 9 72477758 missense possibly damaging 0.89
R3412:Tex9 UTSW 9 72477758 missense possibly damaging 0.89
R4373:Tex9 UTSW 9 72480595 critical splice donor site probably null
R4972:Tex9 UTSW 9 72478338 critical splice donor site probably null
R5323:Tex9 UTSW 9 72477905 missense probably damaging 1.00
R5401:Tex9 UTSW 9 72486778 critical splice donor site probably null
R6149:Tex9 UTSW 9 72462000 splice site probably null
R7396:Tex9 UTSW 9 72480790 splice site probably null
R7412:Tex9 UTSW 9 72486778 critical splice donor site probably null
R8198:Tex9 UTSW 9 72480658 start gained probably benign
R8745:Tex9 UTSW 9 72482496 missense probably benign 0.00
X0024:Tex9 UTSW 9 72480674 missense probably damaging 1.00
Posted On2012-04-20