Incidental Mutation 'R4234:Tex30'
ID320990
Institutional Source Beutler Lab
Gene Symbol Tex30
Ensembl Gene ENSMUSG00000026049
Gene Nametestis expressed 30
Synonyms3110030D08Rik, 1700029F09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R4234 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location44086613-44102441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44091512 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 32 (I32K)
Ref Sequence ENSEMBL: ENSMUSP00000121385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027215] [ENSMUST00000125540] [ENSMUST00000127923] [ENSMUST00000128190] [ENSMUST00000129702] [ENSMUST00000133677] [ENSMUST00000143327] [ENSMUST00000147571] [ENSMUST00000147661] [ENSMUST00000149502] [ENSMUST00000150911] [ENSMUST00000152239] [ENSMUST00000156392]
Predicted Effect probably benign
Transcript: ENSMUST00000027215
AA Change: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125540
AA Change: I32K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121385
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 8e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127923
Predicted Effect probably benign
Transcript: ENSMUST00000128190
AA Change: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: I32K

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: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: I32K

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: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: I32K

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
AA Change: I32K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150911
AA Change: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 1.2e-23 PFAM
Pfam:DLH 65 214 2.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152239
AA Change: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156392
AA Change: I32K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: I32K

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
Ahnak A T 19: 9,000,786 K90* probably null Het
Ajuba T C 14: 54,569,526 R490G probably damaging Het
Akap6 T A 12: 53,139,671 N1289K probably damaging Het
Ankfy1 G A 11: 72,714,484 probably null Het
Ap3s1 A T 18: 46,779,200 T96S probably benign Het
Arhgap21 A G 2: 20,887,137 V161A probably damaging Het
Arhgef18 T C 8: 3,450,317 I541T possibly damaging Het
Aspg T A 12: 112,123,316 Y429* probably null Het
Atg14 T C 14: 47,551,345 K184E probably benign Het
BC034090 C T 1: 155,241,580 G264D probably benign Het
Casp8 T C 1: 58,844,770 V432A probably damaging Het
Cerk T C 15: 86,142,788 K174E probably benign Het
Col19a1 T C 1: 24,315,395 probably null Het
Cyp2c23 G T 19: 44,029,165 T8K unknown Het
Ddx1 C T 12: 13,223,857 V590I possibly damaging Het
Dok4 T C 8: 94,865,664 E232G probably damaging Het
Dpf1 T C 7: 29,315,632 S304P probably damaging Het
Dpyd T A 3: 119,431,584 I1002N probably damaging Het
Fam107b T C 2: 3,770,740 S3P possibly damaging Het
Gm1527 G A 3: 28,914,366 G189D probably damaging Het
Hspa12b T C 2: 131,139,012 V162A probably benign Het
Lix1l T A 3: 96,623,657 probably null Het
Mdc1 T C 17: 35,848,824 C658R probably benign Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Myh15 G T 16: 49,163,042 V1507L probably benign Het
Nfe2l1 T C 11: 96,819,909 D210G probably damaging Het
Notch3 T A 17: 32,141,341 I1539F probably damaging Het
Pcdhac1 A C 18: 37,090,958 S275R probably damaging Het
Pcdhga5 A G 18: 37,695,948 D483G possibly damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Rbbp5 A G 1: 132,484,758 T20A probably benign Het
Rere T C 4: 150,617,405 V1414A probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Ryr3 G T 2: 112,910,407 N538K probably damaging Het
Serpina3j C A 12: 104,315,186 T206K probably benign Het
Skint11 C A 4: 114,244,659 Q99K probably benign Het
Slc27a5 C A 7: 12,988,443 C416F probably benign Het
Tas2r140 A T 6: 133,054,952 V281D probably damaging Het
Trpc2 T C 7: 102,088,135 I752T possibly damaging Het
Wnk2 A G 13: 49,061,128 V1314A probably benign Het
Other mutations in Tex30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Tex30 APN 1 44087022 missense probably benign
IGL02436:Tex30 APN 1 44088505 unclassified 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
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 intron probably null
R8096:Tex30 UTSW 1 44088503 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCCAAGTTTCCAAGGATATAAG -3'
(R):5'- GGCCATGCATTCAGTCATAACTC -3'

Sequencing Primer
(F):5'- CCAAGTTTCCAAGGATATAAGAGAAC -3'
(R):5'- GCATTCAGTCATAACTCCTACAAAAC -3'
Posted On2015-06-12