Incidental Mutation 'R6876:Tes3-ps'
ID 536430
Institutional Source Beutler Lab
Gene Symbol Tes3-ps
Ensembl Gene ENSMUSG00000113255
Gene Name testis derived transcript 3, pseudogene
Synonyms
MMRRC Submission 044972-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.623) question?
Stock # R6876 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49647077-49649865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49647195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 24 (K24E)
Ref Sequence ENSEMBL: ENSMUSP00000152773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000222404]
AlphaFold A0A1Y7VP24
Predicted Effect probably benign
Transcript: ENSMUST00000021818
SMART Domains Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
Pfam:CENP-P 102 278 3.9e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222404
AA Change: K24E

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,044,288 (GRCm39) T201A probably damaging Het
Abca12 T A 1: 71,302,667 (GRCm39) D2184V probably damaging Het
Abcf1 C T 17: 36,270,136 (GRCm39) D641N probably benign Het
Adgrv1 C A 13: 81,303,273 (GRCm39) probably null Het
Aftph T C 11: 20,659,744 (GRCm39) E693G probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Arv1 A G 8: 125,457,651 (GRCm39) K185R probably damaging Het
Ces4a T A 8: 105,871,624 (GRCm39) V258D possibly damaging Het
Col6a5 T C 9: 105,814,506 (GRCm39) D502G unknown Het
Diaph1 A T 18: 38,029,426 (GRCm39) H335Q unknown Het
Dtna G A 18: 23,744,167 (GRCm39) V404I probably benign Het
Ephb1 T C 9: 101,861,319 (GRCm39) D615G probably damaging Het
Gimap3 A T 6: 48,742,855 (GRCm39) I25N probably damaging Het
Hao1 A G 2: 134,343,069 (GRCm39) V274A probably benign Het
Hirip3 T C 7: 126,463,321 (GRCm39) S426P probably damaging Het
Igkv4-69 T C 6: 69,260,818 (GRCm39) D103G probably damaging Het
Kdm8 T C 7: 125,051,830 (GRCm39) V141A probably benign Het
Mink1 G T 11: 70,498,261 (GRCm39) A553S probably benign Het
Mpl T A 4: 118,314,317 (GRCm39) Y60F probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo5a C A 9: 75,067,772 (GRCm39) R609S probably benign Het
Myo5b A T 18: 74,841,026 (GRCm39) H969L probably benign Het
Or1n2 T A 2: 36,797,834 (GRCm39) I292N probably damaging Het
Or2h2c G C 17: 37,422,098 (GRCm39) Q259E probably damaging Het
Or2y16 T C 11: 49,335,068 (GRCm39) L130P probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Prodh2 T A 7: 30,205,925 (GRCm39) W207R probably damaging Het
Qng1 T C 13: 58,532,910 (GRCm39) D20G probably damaging Het
Rfx6 A G 10: 51,596,087 (GRCm39) K457E probably damaging Het
Sim1 A G 10: 50,859,791 (GRCm39) E551G possibly damaging Het
Soat2 T C 15: 102,069,049 (GRCm39) F358S probably damaging Het
Txndc16 A G 14: 45,400,497 (GRCm39) F335L possibly damaging Het
Unc45b T C 11: 82,813,738 (GRCm39) Y382H probably benign Het
Vmn2r60 A G 7: 41,785,087 (GRCm39) T100A probably null Het
Vmn2r93 T A 17: 18,525,450 (GRCm39) H369Q probably benign Het
Yy1 A G 12: 108,772,518 (GRCm39) I265V probably benign Het
Zfp54 A T 17: 21,654,239 (GRCm39) K244N probably damaging Het
Other mutations in Tes3-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6227:Tes3-ps UTSW 13 49,647,516 (GRCm39) missense probably damaging 0.99
R7447:Tes3-ps UTSW 13 49,647,508 (GRCm39) missense possibly damaging 0.58
R7936:Tes3-ps UTSW 13 49,647,460 (GRCm39) missense probably benign 0.22
R8769:Tes3-ps UTSW 13 49,647,356 (GRCm39) missense probably benign 0.00
R8823:Tes3-ps UTSW 13 49,647,692 (GRCm39) missense probably benign 0.31
R9500:Tes3-ps UTSW 13 49,647,815 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TACCTGATTCTGCAGTGAGC -3'
(R):5'- GGGCCAGATCATCACAGAACTG -3'

Sequencing Primer
(F):5'- ACCTGATTCTGCAGTGAGCTTACAG -3'
(R):5'- AGAACTGCTGTATACCATCTATTCC -3'
Posted On 2018-10-18