Incidental Mutation 'PIT4495001:Tex47'
ID 555953
Institutional Source Beutler Lab
Gene Symbol Tex47
Ensembl Gene ENSMUSG00000040514
Gene Name testis expressed 47
Synonyms 4921511H03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # PIT4495001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 7354119-7361491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7355011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 64 (D64G)
Ref Sequence ENSEMBL: ENSMUSP00000086176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088796] [ENSMUST00000159546] [ENSMUST00000160634] [ENSMUST00000200317]
AlphaFold Q9D5W8
Predicted Effect probably benign
Transcript: ENSMUST00000088796
AA Change: D64G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: D64G

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159546
AA Change: D64G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: D64G

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160634
AA Change: D64G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: D64G

DomainStartEndE-ValueType
Blast:BLUF 47 146 2e-20 BLAST
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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.0%
  • 20x: 69.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,460,755 (GRCm39) V384D probably damaging Het
Adamts7 A G 9: 90,056,675 (GRCm39) E248G probably damaging Het
Aff1 A G 5: 103,997,391 (GRCm39) T1162A probably benign Het
Ank3 C A 10: 69,828,902 (GRCm39) H2524N Het
Aoc1l3 A T 6: 48,964,710 (GRCm39) E239D possibly damaging Het
Cct7 T A 6: 85,436,943 (GRCm39) N60K probably damaging Het
Cfap43 A C 19: 47,885,741 (GRCm39) C291W probably damaging Het
Cobl G A 11: 12,204,596 (GRCm39) T702I probably benign Het
Col5a1 C A 2: 27,914,788 (GRCm39) Q1624K unknown Het
Cubn T A 2: 13,496,561 (GRCm39) T22S probably benign Het
Def8 A C 8: 124,186,292 (GRCm39) M344L probably benign Het
Fzd7 A G 1: 59,523,466 (GRCm39) T450A probably benign Het
Gm11214 G A 4: 63,580,922 (GRCm39) L76F probably benign Het
Gm5797 T C 14: 7,329,530 (GRCm38) T153A probably benign Het
Gsk3a A C 7: 24,935,064 (GRCm39) S129A probably damaging Het
Intu A G 3: 40,652,033 (GRCm39) Q830R probably benign Het
Kcnma1 C T 14: 23,475,665 (GRCm39) V750I probably benign Het
Mlh1 T A 9: 111,076,328 (GRCm39) Y343F probably benign Het
Myb C T 10: 21,028,521 (GRCm39) R114H probably damaging Het
Neb A T 2: 52,102,748 (GRCm39) D4508E probably benign Het
Nell2 T C 15: 95,281,608 (GRCm39) D366G probably benign Het
Or1o3 A C 17: 37,573,721 (GRCm39) V278G possibly damaging Het
Or4d6 A G 19: 12,086,076 (GRCm39) I52T possibly damaging Het
Or5ac25 A C 16: 59,181,871 (GRCm39) F237V probably damaging Het
Or5h26 G T 16: 58,988,337 (GRCm39) H56Q possibly damaging Het
Or7a38 T C 10: 78,752,821 (GRCm39) V49A probably benign Het
Pcdhgc5 C T 18: 37,954,030 (GRCm39) H435Y possibly damaging Het
Pira12 A T 7: 3,900,457 (GRCm39) C98S probably damaging Het
Pnpla7 T A 2: 24,932,151 (GRCm39) D935E probably damaging Het
Pole A G 5: 110,451,780 (GRCm39) E874G probably damaging Het
Psd3 A C 8: 68,416,565 (GRCm39) I158R probably benign Het
Pzp C A 6: 128,479,192 (GRCm39) V654L probably benign Het
Rabep1 A G 11: 70,808,405 (GRCm39) T454A probably damaging Het
Rad54l2 C A 9: 106,593,343 (GRCm39) S419I probably benign Het
Rin3 A G 12: 102,335,295 (GRCm39) D402G probably benign Het
Ripk4 T C 16: 97,544,370 (GRCm39) H759R probably damaging Het
Rlig1 A T 10: 100,419,812 (GRCm39) F90I probably damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Sf3a3 C T 4: 124,622,113 (GRCm39) P391L probably damaging Het
Snx9 T A 17: 5,970,401 (GRCm39) I379K possibly damaging Het
Syt5 A C 7: 4,544,077 (GRCm39) probably null Het
Zbbx C A 3: 74,968,944 (GRCm39) W509L probably damaging Het
Zer1 T C 2: 29,993,555 (GRCm39) K551R 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
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
R5107:Tex47 UTSW 5 7,354,842 (GRCm39) missense probably benign 0.01
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'- TCATGGTCCATAATCGGAAGGG -3'
(R):5'- TGAGAAGCAACGACGATTTTC -3'

Sequencing Primer
(F):5'- CCATAATCGGAAGGGCAGCAAAAAG -3'
(R):5'- CAACGACGATTTTCATGTTTTGGAGC -3'
Posted On 2019-06-07