Incidental Mutation 'R4234:Tex30'
ID 320990
Institutional Source Beutler Lab
Gene Symbol Tex30
Ensembl Gene ENSMUSG00000026049
Gene Name testis expressed 30
Synonyms 1700029F09Rik, 3110030D08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R4234 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44125773-44141601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44130672 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000147571] [ENSMUST00000149502] [ENSMUST00000150911] [ENSMUST00000152239] [ENSMUST00000156392] [ENSMUST00000147661] [ENSMUST00000143327]
AlphaFold Q3TUU5
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 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134195
Predicted Effect probably benign
Transcript: ENSMUST00000147661
Predicted Effect probably benign
Transcript: ENSMUST00000143327
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: 69,438,135 (GRCm39) A53T probably benign Het
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Ap3s1 A T 18: 46,912,267 (GRCm39) T96S probably benign Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Aspg T A 12: 112,089,750 (GRCm39) Y429* probably null Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
BC034090 C T 1: 155,117,326 (GRCm39) G264D probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cerk T C 15: 86,026,989 (GRCm39) K174E probably benign Het
Col19a1 T C 1: 24,354,476 (GRCm39) probably null Het
Cyp2c23 G T 19: 44,017,604 (GRCm39) T8K unknown Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dok4 T C 8: 95,592,292 (GRCm39) E232G probably damaging Het
Dpf1 T C 7: 29,015,057 (GRCm39) S304P probably damaging Het
Dpyd T A 3: 119,225,233 (GRCm39) I1002N probably damaging Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Gm1527 G A 3: 28,968,515 (GRCm39) G189D probably damaging Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Lix1l T A 3: 96,530,973 (GRCm39) probably null Het
Mdc1 T C 17: 36,159,716 (GRCm39) C658R probably benign Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh15 G T 16: 48,983,405 (GRCm39) V1507L probably benign Het
Nfe2l1 T C 11: 96,710,735 (GRCm39) D210G probably damaging Het
Notch3 T A 17: 32,360,315 (GRCm39) I1539F probably damaging Het
Pcdhac1 A C 18: 37,224,011 (GRCm39) S275R probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rbbp5 A G 1: 132,412,496 (GRCm39) T20A probably benign Het
Rere T C 4: 150,701,862 (GRCm39) V1414A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr3 G T 2: 112,740,752 (GRCm39) N538K probably damaging Het
Serpina3j C A 12: 104,281,445 (GRCm39) T206K probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc27a5 C A 7: 12,722,370 (GRCm39) C416F probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Trpc2 T C 7: 101,737,342 (GRCm39) I752T possibly damaging Het
Wnk2 A G 13: 49,214,604 (GRCm39) V1314A probably benign Het
Other mutations in Tex30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Tex30 APN 1 44,126,182 (GRCm39) missense probably benign
IGL02436:Tex30 APN 1 44,127,665 (GRCm39) splice site probably null
IGL02886:Tex30 APN 1 44,127,683 (GRCm39) missense probably damaging 1.00
R1895:Tex30 UTSW 1 44,130,564 (GRCm39) missense probably damaging 0.99
R1946:Tex30 UTSW 1 44,130,564 (GRCm39) missense probably damaging 0.99
R4807:Tex30 UTSW 1 44,126,118 (GRCm39) missense possibly damaging 0.58
R6633:Tex30 UTSW 1 44,127,084 (GRCm39) missense probably benign 0.43
R7618:Tex30 UTSW 1 44,127,410 (GRCm39) splice site probably null
R8096:Tex30 UTSW 1 44,127,663 (GRCm39) missense probably damaging 1.00
R9030:Tex30 UTSW 1 44,130,356 (GRCm39) missense
R9051:Tex30 UTSW 1 44,127,136 (GRCm39) missense possibly damaging 0.87
R9226:Tex30 UTSW 1 44,126,133 (GRCm39) missense probably damaging 1.00
R9352:Tex30 UTSW 1 44,130,753 (GRCm39) critical splice acceptor site probably null
R9700:Tex30 UTSW 1 44,130,374 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CTGCCAAGTTTCCAAGGATATAAG -3'
(R):5'- GGCCATGCATTCAGTCATAACTC -3'

Sequencing Primer
(F):5'- CCAAGTTTCCAAGGATATAAGAGAAC -3'
(R):5'- GCATTCAGTCATAACTCCTACAAAAC -3'
Posted On 2015-06-12