Incidental Mutation 'R1946:Tex30'
ID 216639
Institutional Source Beutler Lab
Gene Symbol Tex30
Ensembl Gene ENSMUSG00000026049
Gene Name testis expressed 30
Synonyms 1700029F09Rik, 3110030D08Rik
MMRRC Submission 039964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1946 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44125773-44141601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44130564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 68 (G68D)
Ref Sequence ENSEMBL: ENSMUSP00000115939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027215] [ENSMUST00000125540] [ENSMUST00000127923] [ENSMUST00000128190] [ENSMUST00000129702] [ENSMUST00000133677] [ENSMUST00000150911] [ENSMUST00000143327] [ENSMUST00000147571] [ENSMUST00000149502] [ENSMUST00000152239] [ENSMUST00000156392] [ENSMUST00000147661]
AlphaFold Q3TUU5
Predicted Effect probably damaging
Transcript: ENSMUST00000027215
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027215
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125540
AA Change: G68D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121385
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 8e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127923
AA Change: G27D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000128190
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117565
Gene: ENSMUSG00000026049
AA Change: G68D

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 damaging
Transcript: ENSMUST00000133677
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115068
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 1.2e-23 PFAM
Pfam:DLH 65 214 2.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150911
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120928
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 1.2e-23 PFAM
Pfam:DLH 65 214 2.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143327
AA Change: G27D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000147571
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114624
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149502
AA Change: G68D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115939
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
SCOP:d1thta_ 4 64 6e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152239
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114991
Gene: ENSMUSG00000026049
AA Change: G68D

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 31 193 3.5e-23 PFAM
Pfam:DLH 65 211 2.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156392
AA Change: G68D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121035
Gene: ENSMUSG00000026049
AA Change: G68D

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 noncoding transcript
Transcript: ENSMUST00000134195
Predicted Effect probably benign
Transcript: ENSMUST00000147661
Meta Mutation Damage Score 0.2672 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adamts5 C A 16: 85,696,131 (GRCm39) C342F probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Aen G C 7: 78,552,420 (GRCm39) E32Q probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgap44 A G 11: 64,902,922 (GRCm39) M509T probably damaging Het
Arpc1b A G 5: 145,059,443 (GRCm39) T56A probably null Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
Bmpr2 T C 1: 59,907,556 (GRCm39) V883A possibly damaging Het
Bpifa1 A T 2: 153,987,554 (GRCm39) I135F probably damaging Het
Bsn A G 9: 107,991,850 (GRCm39) F1301L probably damaging Het
Capn13 T C 17: 73,657,520 (GRCm39) E240G possibly damaging Het
Ccdc18 A G 5: 108,376,861 (GRCm39) E1434G probably damaging Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Cpn1 G A 19: 43,944,957 (GRCm39) T450M probably benign Het
Dlg4 A G 11: 69,930,401 (GRCm39) Y432C probably damaging Het
Dnah8 C A 17: 30,931,359 (GRCm39) T1458K probably benign Het
Dock5 A T 14: 68,023,765 (GRCm39) M1132K probably damaging Het
Dsg2 A G 18: 20,713,605 (GRCm39) D192G probably damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fndc11 A T 2: 180,863,627 (GRCm39) D144V probably benign Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Ganab T A 19: 8,888,172 (GRCm39) D439E probably damaging Het
Gm10228 C A 16: 88,838,241 (GRCm39) G21V unknown Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Gsdmc4 C A 15: 63,774,629 (GRCm39) D51Y probably benign Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Kcnq2 T A 2: 180,730,244 (GRCm39) D446V probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Lrrcc1 A G 3: 14,615,453 (GRCm39) R394G probably benign Het
Lrrk2 G A 15: 91,620,864 (GRCm39) probably null Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Msrb3 A G 10: 120,687,913 (GRCm39) V54A probably damaging Het
Muc21 A T 17: 35,933,416 (GRCm39) probably benign Het
Ncoa3 T A 2: 165,901,097 (GRCm39) N896K possibly damaging Het
Ncor2 G A 5: 125,111,476 (GRCm39) T1314I probably damaging Het
Nes A G 3: 87,885,821 (GRCm39) Q1316R possibly damaging Het
Nfe2l3 A C 6: 51,434,295 (GRCm39) Q285P probably damaging Het
Nkd1 C T 8: 89,318,745 (GRCm39) H357Y probably damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Or10ak11 T C 4: 118,687,223 (GRCm39) N139S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or5b3 T C 19: 13,388,143 (GRCm39) V70A possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Otx1 G T 11: 21,948,482 (GRCm39) T46K probably damaging Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Pcdhb16 T A 18: 37,611,952 (GRCm39) L304* probably null Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Ppp1r12b A G 1: 134,820,008 (GRCm39) V245A probably damaging Het
Ppp2r2d A G 7: 138,470,196 (GRCm39) D19G probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Rimbp3 G A 16: 17,028,291 (GRCm39) V572I probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Syngr3 T C 17: 24,906,680 (GRCm39) N45S probably benign Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Usf2 T C 7: 30,655,663 (GRCm39) T1A probably null Het
Vill A T 9: 118,887,560 (GRCm39) H108L probably benign Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K probably damaging Het
Zfp24 AC A 18: 24,147,476 (GRCm39) probably null 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
R4234:Tex30 UTSW 1 44,130,672 (GRCm39) missense possibly damaging 0.77
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'- ACGATGTCAACATTCATCTCCATG -3'
(R):5'- GGCCATGCATTCAGTCATAACTC -3'

Sequencing Primer
(F):5'- TCATCTCCATGAAAACTAACTGATG -3'
(R):5'- GCATTCAGTCATAACTCCTACAAAAC -3'
Posted On 2014-08-01