Incidental Mutation 'R4580:Topaz1'
ID 343603
Institutional Source Beutler Lab
Gene Symbol Topaz1
Ensembl Gene ENSMUSG00000094985
Gene Name testis and ovary specific PAZ domain containing 1
Synonyms Gm9524
MMRRC Submission 041599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4580 (G1)
Quality Score 211
Status Not validated
Chromosome 9
Chromosomal Location 122576411-122631200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122576580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 57 (M57K)
Ref Sequence ENSEMBL: ENSMUSP00000136304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178679]
AlphaFold E5FYH1
Predicted Effect probably null
Transcript: ENSMUST00000178679
AA Change: M57K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: M57K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213519
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,237 (GRCm39) Y114C probably damaging Het
Abcc2 T C 19: 43,799,558 (GRCm39) S556P probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp6v1g1 A G 4: 63,468,269 (GRCm39) N91D probably benign Het
BC005537 G T 13: 24,987,394 (GRCm39) A11S probably benign Het
Bltp1 A T 3: 37,084,174 (GRCm39) T3864S probably benign Het
Bub1 A C 2: 127,671,596 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cdh15 T C 8: 123,591,897 (GRCm39) L594P probably damaging Het
Cobll1 C T 2: 64,981,417 (GRCm39) V90I probably benign Het
Cog2 T C 8: 125,271,875 (GRCm39) V463A probably benign Het
Cpeb4 T A 11: 31,877,757 (GRCm39) probably null Het
Creb5 G A 6: 53,581,519 (GRCm39) M172I possibly damaging Het
Cyp4a32 T C 4: 115,460,126 (GRCm39) silent Het
Dnah8 T A 17: 30,881,026 (GRCm39) S588T probably benign Het
Ecpas T C 4: 58,840,751 (GRCm39) Y669C probably damaging Het
Esd T C 14: 74,979,517 (GRCm39) V120A possibly damaging Het
Fbxo5 T C 10: 5,755,255 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,432 (GRCm39) D430G probably benign Het
Golga4 C A 9: 118,386,327 (GRCm39) Q1150K probably benign Het
Grb14 T C 2: 64,783,947 (GRCm39) N60S probably benign Het
Grk4 A G 5: 34,818,325 (GRCm39) N2S probably damaging Het
Henmt1 T A 3: 108,850,081 (GRCm39) S21R probably benign Het
Ifngr2 A G 16: 91,354,906 (GRCm39) K113E probably benign Het
Ighv15-2 T A 12: 114,528,590 (GRCm39) T15S probably benign Het
Kif24 A G 4: 41,395,287 (GRCm39) S529P probably damaging Het
Large2 T C 2: 92,200,957 (GRCm39) N51S possibly damaging Het
Lmtk2 A G 5: 144,111,599 (GRCm39) E773G possibly damaging Het
Lrfn3 A T 7: 30,059,467 (GRCm39) C253S probably damaging Het
Maea T C 5: 33,517,832 (GRCm39) V130A possibly damaging Het
Marchf11 A T 15: 26,311,189 (GRCm39) I222F probably damaging Het
Mast4 A T 13: 102,873,766 (GRCm39) Y1699* probably null Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mpzl3 T A 9: 44,979,529 (GRCm39) V160E possibly damaging Het
Myh15 T C 16: 48,885,388 (GRCm39) S88P possibly damaging Het
Myl2 A T 5: 122,244,801 (GRCm39) H157L probably benign Het
Myo9b A G 8: 71,767,779 (GRCm39) N284S probably damaging Het
Nphp1 A G 2: 127,610,089 (GRCm39) probably null Het
Nrcam T C 12: 44,609,323 (GRCm39) probably null Het
Nt5c3b G T 11: 100,323,885 (GRCm39) F134L probably damaging Het
Or4c120 T A 2: 89,001,544 (GRCm39) Q4L probably benign Het
Otog A G 7: 45,937,225 (GRCm39) R1645G possibly damaging Het
Pask T C 1: 93,249,830 (GRCm39) I523M probably benign Het
Pcdhb7 T A 18: 37,475,188 (GRCm39) L108Q probably damaging Het
Pdp2 C A 8: 105,321,576 (GRCm39) T475K probably damaging Het
Pgbd1 G C 13: 21,612,499 (GRCm39) P113A probably benign Het
Plk5 C T 10: 80,196,301 (GRCm39) H291Y possibly damaging Het
Pmpca G T 2: 26,283,347 (GRCm39) S382I probably damaging Het
Prl3b1 A G 13: 27,433,450 (GRCm39) T202A possibly damaging Het
Ptgs2 A T 1: 149,979,845 (GRCm39) T317S possibly damaging Het
Ptprc C T 1: 137,998,989 (GRCm39) M1020I probably benign Het
Rhbdl3 T C 11: 80,244,471 (GRCm39) Y393H probably damaging Het
Sema3e T C 5: 14,283,717 (GRCm39) L482P probably damaging Het
Setd2 C T 9: 110,403,311 (GRCm39) T1984I probably benign Het
Slc17a1 T C 13: 24,071,960 (GRCm39) Y393H probably damaging Het
Slc9a3 C T 13: 74,307,005 (GRCm39) R377* probably null Het
Slitrk3 A G 3: 72,958,539 (GRCm39) S78P probably damaging Het
Smim35 G T 9: 45,155,426 (GRCm39) probably null Het
Specc1 T A 11: 62,110,157 (GRCm39) V1054E probably damaging Het
Tbc1d4 T C 14: 101,696,219 (GRCm39) T847A probably benign Het
Tcf7l2 G A 19: 55,907,468 (GRCm39) G343R probably damaging Het
Tex36 A C 7: 133,189,111 (GRCm39) Y154D possibly damaging Het
Trav6-4 T C 14: 53,692,156 (GRCm39) Y85H probably damaging Het
Trim30d A G 7: 104,121,765 (GRCm39) Y327H possibly damaging Het
Ttn A G 2: 76,781,740 (GRCm39) V1056A probably benign Het
Usp32 C A 11: 84,949,953 (GRCm39) probably null Het
Vmn1r59 A T 7: 5,457,136 (GRCm39) M208K probably damaging Het
Vmn2r25 T C 6: 123,799,982 (GRCm39) T787A possibly damaging Het
Vps39 A T 2: 120,169,814 (GRCm39) I246N probably benign Het
Xab2 T C 8: 3,660,162 (GRCm39) D855G probably damaging Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Ythdc2 T A 18: 44,991,265 (GRCm39) C758S possibly damaging Het
Zfp62 A G 11: 49,107,099 (GRCm39) I397V possibly damaging Het
Zscan4d A G 7: 10,896,435 (GRCm39) S312P probably benign 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
R5043:Topaz1 UTSW 9 122,577,469 (GRCm39) missense probably benign
R5084:Topaz1 UTSW 9 122,577,883 (GRCm39) missense probably benign 0.04
R5234:Topaz1 UTSW 9 122,619,258 (GRCm39) missense possibly damaging 0.82
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'- CTTCCTGTAGTGTCGGGTACAG -3'
(R):5'- GACCACCAGCTTCCTTACTG -3'

Sequencing Primer
(F):5'- AGTAGCCTGTGTCCTGCAG -3'
(R):5'- CCTTACTGCGTCTTCTGGGATGAG -3'
Posted On 2015-09-24