Incidental Mutation 'R5234:Topaz1'
ID 398226
Institutional Source Beutler Lab
Gene Symbol Topaz1
Ensembl Gene ENSMUSG00000094985
Gene Name testis and ovary specific PAZ domain containing 1
Synonyms Gm9524
MMRRC Submission 042806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5234 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122576411-122631200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122619258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1285 (T1285M)
Ref Sequence ENSEMBL: ENSMUSP00000136304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178679]
AlphaFold E5FYH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000178679
AA Change: T1285M

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: T1285M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 27 39 N/A INTRINSIC
low complexity region 236 251 N/A INTRINSIC
low complexity region 531 545 N/A INTRINSIC
low complexity region 821 832 N/A INTRINSIC
low complexity region 1129 1139 N/A INTRINSIC
Pfam:Asp_Glu_race_2 1189 1422 3.6e-157 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with abnormal meiosis and apoptosis of male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,302,823 (GRCm39) T2132M probably damaging Het
Abca8b A T 11: 109,867,420 (GRCm39) F213I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adamts6 A G 13: 104,630,130 (GRCm39) Y1091C probably damaging Het
Adamtsl4 T C 3: 95,588,230 (GRCm39) M586V probably benign Het
Anapc4 T C 5: 53,006,118 (GRCm39) S336P probably damaging Het
Atp1a4 A T 1: 172,054,737 (GRCm39) I964K possibly damaging Het
Bcan A T 3: 87,903,453 (GRCm39) D246E probably damaging Het
Ccnf G A 17: 24,453,411 (GRCm39) R343* probably null Het
Col6a5 T C 9: 105,741,404 (GRCm39) H2505R probably damaging Het
Dlg5 T A 14: 24,242,930 (GRCm39) M72L probably damaging Het
Dnajc18 T C 18: 35,816,351 (GRCm39) T196A probably benign Het
Dnajc19 T A 3: 34,112,108 (GRCm39) I146F probably benign Het
Espnl A G 1: 91,272,515 (GRCm39) D581G probably benign Het
Fam167a T C 14: 63,689,787 (GRCm39) L28P probably damaging Het
Fra10ac1 T C 19: 38,204,294 (GRCm39) D94G probably damaging Het
Fut8 A G 12: 77,379,004 (GRCm39) H35R probably benign Het
Gad1-ps T A 10: 99,281,188 (GRCm39) noncoding transcript Het
Garin2 T A 12: 78,762,045 (GRCm39) Y236* probably null Het
Idh2 A T 7: 79,745,853 (GRCm39) V333E probably damaging Het
Inpp5f A G 7: 128,265,407 (GRCm39) I121V probably benign Het
Itga1 A T 13: 115,185,839 (GRCm39) Y54* probably null Het
Lax1 A G 1: 133,608,321 (GRCm39) V140A probably benign Het
Ncoa6 A G 2: 155,279,933 (GRCm39) F28L probably benign Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or1q1 T C 2: 36,887,107 (GRCm39) V95A probably benign Het
Polr2a T C 11: 69,627,666 (GRCm39) I1414V probably benign Het
Ppp1r14b A G 19: 6,954,227 (GRCm39) E115G possibly damaging Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Psmd11 A G 11: 80,319,566 (GRCm39) I19V probably benign Het
Pthlh C A 6: 147,158,592 (GRCm39) G123W probably damaging Het
Qars1 T A 9: 108,391,364 (GRCm39) L572Q probably damaging Het
Rubcn T C 16: 32,656,828 (GRCm39) I516V probably damaging Het
Sgsm3 A T 15: 80,892,145 (GRCm39) S238C probably damaging Het
Slc25a22 C A 7: 141,014,116 (GRCm39) probably benign Het
Slc4a1 G A 11: 102,252,209 (GRCm39) R5W probably benign Het
Tie1 G A 4: 118,339,959 (GRCm39) T356I probably benign Het
Tnn A T 1: 159,972,569 (GRCm39) H344Q possibly damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Trank1 A T 9: 111,215,535 (GRCm39) S1822C probably damaging Het
Ttll11 A C 2: 35,830,745 (GRCm39) Y209D probably damaging Het
Unc45a C G 7: 79,978,547 (GRCm39) A634P probably benign Het
Vmn2r4 C T 3: 64,305,878 (GRCm39) V515I possibly damaging Het
Other mutations in Topaz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Topaz1 UTSW 9 122,604,674 (GRCm39) missense probably benign 0.08
R0098:Topaz1 UTSW 9 122,619,188 (GRCm39) missense possibly damaging 0.93
R0098:Topaz1 UTSW 9 122,619,188 (GRCm39) missense possibly damaging 0.93
R0108:Topaz1 UTSW 9 122,604,674 (GRCm39) missense probably benign 0.08
R0220:Topaz1 UTSW 9 122,578,368 (GRCm39) missense possibly damaging 0.53
R0519:Topaz1 UTSW 9 122,578,544 (GRCm39) missense possibly damaging 0.53
R0617:Topaz1 UTSW 9 122,578,971 (GRCm39) missense possibly damaging 0.73
R0637:Topaz1 UTSW 9 122,626,727 (GRCm39) missense probably benign
R0637:Topaz1 UTSW 9 122,620,542 (GRCm39) nonsense probably null
R1368:Topaz1 UTSW 9 122,577,315 (GRCm39) missense possibly damaging 0.72
R1519:Topaz1 UTSW 9 122,596,076 (GRCm39) missense probably benign 0.33
R1526:Topaz1 UTSW 9 122,625,108 (GRCm39) missense probably damaging 0.98
R1634:Topaz1 UTSW 9 122,609,740 (GRCm39) splice site probably benign
R1871:Topaz1 UTSW 9 122,628,544 (GRCm39) missense probably benign 0.18
R1879:Topaz1 UTSW 9 122,578,684 (GRCm39) missense possibly damaging 0.70
R1913:Topaz1 UTSW 9 122,596,078 (GRCm39) missense possibly damaging 0.73
R1977:Topaz1 UTSW 9 122,576,427 (GRCm39) missense unknown
R1989:Topaz1 UTSW 9 122,579,190 (GRCm39) missense possibly damaging 0.86
R2237:Topaz1 UTSW 9 122,600,212 (GRCm39) missense probably benign
R2238:Topaz1 UTSW 9 122,600,212 (GRCm39) missense probably benign
R2239:Topaz1 UTSW 9 122,600,212 (GRCm39) missense probably benign
R3160:Topaz1 UTSW 9 122,578,446 (GRCm39) missense probably benign 0.33
R3161:Topaz1 UTSW 9 122,578,446 (GRCm39) missense probably benign 0.33
R3162:Topaz1 UTSW 9 122,578,446 (GRCm39) missense probably benign 0.33
R3821:Topaz1 UTSW 9 122,626,848 (GRCm39) missense possibly damaging 0.85
R3822:Topaz1 UTSW 9 122,626,848 (GRCm39) missense possibly damaging 0.85
R3944:Topaz1 UTSW 9 122,579,669 (GRCm39) missense possibly damaging 0.73
R4571:Topaz1 UTSW 9 122,576,501 (GRCm39) missense probably benign 0.01
R4580:Topaz1 UTSW 9 122,576,580 (GRCm39) missense probably null 0.00
R5043:Topaz1 UTSW 9 122,577,469 (GRCm39) missense probably benign
R5084:Topaz1 UTSW 9 122,577,883 (GRCm39) missense probably benign 0.04
R5388:Topaz1 UTSW 9 122,603,158 (GRCm39) missense possibly damaging 0.96
R5471:Topaz1 UTSW 9 122,620,481 (GRCm39) splice site probably null
R5706:Topaz1 UTSW 9 122,628,550 (GRCm39) missense possibly damaging 0.53
R5993:Topaz1 UTSW 9 122,578,104 (GRCm39) missense probably benign 0.00
R6104:Topaz1 UTSW 9 122,578,931 (GRCm39) missense probably benign
R6137:Topaz1 UTSW 9 122,626,821 (GRCm39) missense possibly damaging 0.53
R6186:Topaz1 UTSW 9 122,577,891 (GRCm39) missense probably benign 0.33
R6209:Topaz1 UTSW 9 122,579,570 (GRCm39) missense possibly damaging 0.85
R6543:Topaz1 UTSW 9 122,577,600 (GRCm39) missense possibly damaging 0.53
R6548:Topaz1 UTSW 9 122,577,419 (GRCm39) missense possibly damaging 0.53
R6557:Topaz1 UTSW 9 122,577,960 (GRCm39) missense probably benign 0.02
R6636:Topaz1 UTSW 9 122,578,851 (GRCm39) missense probably benign 0.33
R6637:Topaz1 UTSW 9 122,578,851 (GRCm39) missense probably benign 0.33
R6859:Topaz1 UTSW 9 122,631,023 (GRCm39) missense probably benign 0.33
R7123:Topaz1 UTSW 9 122,577,480 (GRCm39) missense probably damaging 1.00
R7180:Topaz1 UTSW 9 122,626,770 (GRCm39) missense possibly damaging 0.85
R7319:Topaz1 UTSW 9 122,579,428 (GRCm39) missense possibly damaging 0.73
R7743:Topaz1 UTSW 9 122,614,201 (GRCm39) missense probably benign 0.16
R7810:Topaz1 UTSW 9 122,578,250 (GRCm39) missense probably benign 0.18
R7871:Topaz1 UTSW 9 122,609,765 (GRCm39) missense possibly damaging 0.96
R7875:Topaz1 UTSW 9 122,578,652 (GRCm39) missense possibly damaging 0.53
R7916:Topaz1 UTSW 9 122,576,499 (GRCm39) missense probably benign 0.05
R8116:Topaz1 UTSW 9 122,604,708 (GRCm39) missense probably benign 0.00
R8437:Topaz1 UTSW 9 122,610,427 (GRCm39) nonsense probably null
R8470:Topaz1 UTSW 9 122,603,173 (GRCm39) missense probably benign
R8487:Topaz1 UTSW 9 122,579,001 (GRCm39) missense possibly damaging 0.85
R8493:Topaz1 UTSW 9 122,579,573 (GRCm39) missense probably benign 0.33
R8919:Topaz1 UTSW 9 122,626,930 (GRCm39) splice site probably benign
R8922:Topaz1 UTSW 9 122,625,101 (GRCm39) missense possibly damaging 0.51
R9019:Topaz1 UTSW 9 122,619,192 (GRCm39) missense possibly damaging 0.52
R9126:Topaz1 UTSW 9 122,625,228 (GRCm39) missense probably benign 0.33
R9230:Topaz1 UTSW 9 122,596,097 (GRCm39) missense probably benign
R9302:Topaz1 UTSW 9 122,617,887 (GRCm39) missense possibly damaging 0.93
R9408:Topaz1 UTSW 9 122,626,728 (GRCm39) missense probably benign 0.02
R9469:Topaz1 UTSW 9 122,577,585 (GRCm39) missense probably damaging 0.98
R9487:Topaz1 UTSW 9 122,604,707 (GRCm39) missense probably benign 0.08
R9557:Topaz1 UTSW 9 122,578,530 (GRCm39) missense possibly damaging 0.85
R9564:Topaz1 UTSW 9 122,579,219 (GRCm39) missense probably benign 0.33
R9726:Topaz1 UTSW 9 122,603,935 (GRCm39) critical splice donor site probably benign
R9726:Topaz1 UTSW 9 122,603,934 (GRCm39) critical splice donor site probably benign
X0020:Topaz1 UTSW 9 122,603,134 (GRCm39) missense possibly damaging 0.96
Z1176:Topaz1 UTSW 9 122,620,559 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GCCTCTATATGTGCTAGCGTG -3'
(R):5'- GGGGAACTAGTTTCTGTCCTTATAAC -3'

Sequencing Primer
(F):5'- CGTGTGCTTGCAGAGACAG -3'
(R):5'- CATGGAAAGGTTTACAGATTTTAGCC -3'
Posted On 2016-07-06