Incidental Mutation 'R5107:Tex47'
ID 393596
Institutional Source Beutler Lab
Gene Symbol Tex47
Ensembl Gene ENSMUSG00000040514
Gene Name testis expressed 47
Synonyms 4921511H03Rik
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5107 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 7354119-7361491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 7354842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 8 (R8W)
Ref Sequence ENSEMBL: ENSMUSP00000125471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088796] [ENSMUST00000159546] [ENSMUST00000160634] [ENSMUST00000200317]
AlphaFold Q9D5W8
Predicted Effect probably benign
Transcript: ENSMUST00000088796
AA Change: R8W

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: R8W

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159546
AA Change: R8W

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: R8W

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160634
AA Change: R8W

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: R8W

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196680
Predicted Effect probably benign
Transcript: ENSMUST00000200317
SMART Domains Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094

DomainStartEndE-ValueType
ZnF_C2H2 56 80 2e-2 SMART
low complexity region 958 970 N/A INTRINSIC
low complexity region 1155 1179 N/A INTRINSIC
low complexity region 1196 1207 N/A INTRINSIC
low complexity region 1215 1234 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Tex47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Tex47 APN 5 7,355,468 (GRCm39) nonsense probably null
IGL00673:Tex47 APN 5 7,355,211 (GRCm39) missense probably damaging 1.00
PIT4495001:Tex47 UTSW 5 7,355,011 (GRCm39) missense probably benign 0.34
R0648:Tex47 UTSW 5 7,355,215 (GRCm39) missense probably benign 0.04
R1911:Tex47 UTSW 5 7,355,022 (GRCm39) missense probably damaging 0.98
R2163:Tex47 UTSW 5 7,355,022 (GRCm39) missense probably damaging 0.98
R3690:Tex47 UTSW 5 7,354,777 (GRCm39) intron probably benign
R3762:Tex47 UTSW 5 7,355,529 (GRCm39) missense probably benign 0.01
R4423:Tex47 UTSW 5 7,355,364 (GRCm39) missense probably benign 0.10
R4424:Tex47 UTSW 5 7,355,364 (GRCm39) missense probably benign 0.10
R5379:Tex47 UTSW 5 7,354,843 (GRCm39) missense probably null 0.01
R5589:Tex47 UTSW 5 7,354,834 (GRCm39) missense probably benign
R6265:Tex47 UTSW 5 7,355,461 (GRCm39) missense probably damaging 1.00
R6325:Tex47 UTSW 5 7,354,935 (GRCm39) nonsense probably null
R6580:Tex47 UTSW 5 7,355,212 (GRCm39) missense probably damaging 1.00
R8390:Tex47 UTSW 5 7,355,301 (GRCm39) missense probably benign 0.00
R8889:Tex47 UTSW 5 7,355,115 (GRCm39) missense probably damaging 0.99
R8892:Tex47 UTSW 5 7,355,115 (GRCm39) missense probably damaging 0.99
R9416:Tex47 UTSW 5 7,355,194 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TTGTTCACAGCACAGAGTGGG -3'
(R):5'- ACTGAAACAGTTGCTCATAGTACTC -3'

Sequencing Primer
(F):5'- CAGCACAGAGTGGGAATTTGTTATTC -3'
(R):5'- GCTCATAGTACTCAGAGATGTCC -3'
Posted On 2016-06-15