Incidental Mutation 'IGL02220:Tex30'
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ID285101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tex30
Ensembl Gene ENSMUSG00000026049
Gene Nametestis expressed 30
Synonyms3110030D08Rik, 1700029F09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02220
Quality Score
Status
Chromosome1
Chromosomal Location44086613-44102441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44087022 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 182 (S182R)
Ref Sequence ENSEMBL: ENSMUSP00000121035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027215] [ENSMUST00000125540] [ENSMUST00000127923] [ENSMUST00000128190] [ENSMUST00000129702] [ENSMUST00000133677] [ENSMUST00000143327] [ENSMUST00000147571] [ENSMUST00000147661] [ENSMUST00000149502] [ENSMUST00000150911] [ENSMUST00000156392] [ENSMUST00000152239]
Predicted Effect probably benign
Transcript: ENSMUST00000027215
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125540
SMART Domains Protein: ENSMUSP00000121385
Gene: ENSMUSG00000026049

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 8e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127923
Predicted Effect probably benign
Transcript: ENSMUST00000128190
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129702
SMART Domains Protein: ENSMUSP00000115464
Gene: ENSMUSG00000026049

DomainStartEndE-ValueType
SCOP:d1fj2a_ 20 78 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133677
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 1.2e-23 PFAM
Pfam:DLH 65 214 2.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134195
Predicted Effect probably benign
Transcript: ENSMUST00000143327
Predicted Effect probably benign
Transcript: ENSMUST00000147571
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148542
Predicted Effect probably benign
Transcript: ENSMUST00000149502
SMART Domains Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150911
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 1.2e-23 PFAM
Pfam:DLH 65 214 2.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156392
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152239
AA Change: S182R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: S182R

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Tex30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02436:Tex30 APN 1 44088505 splice site probably null
IGL02886:Tex30 APN 1 44088523 missense probably damaging 1.00
R1895:Tex30 UTSW 1 44091404 missense probably damaging 0.99
R1946:Tex30 UTSW 1 44091404 missense probably damaging 0.99
R4234:Tex30 UTSW 1 44091512 missense possibly damaging 0.77
R4807:Tex30 UTSW 1 44086958 missense possibly damaging 0.58
R6633:Tex30 UTSW 1 44087924 missense probably benign 0.43
R7618:Tex30 UTSW 1 44088250 splice site probably null
R8096:Tex30 UTSW 1 44088503 missense probably damaging 1.00
Posted On2015-04-16