Incidental Mutation 'R7743:Topaz1'
ID 596674
Institutional Source Beutler Lab
Gene Symbol Topaz1
Ensembl Gene ENSMUSG00000094985
Gene Name testis and ovary specific PAZ domain containing 1
Synonyms Gm9524
MMRRC Submission 045799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7743 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 122576411-122631200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122614201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1207 (H1207R)
Ref Sequence ENSEMBL: ENSMUSP00000136304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178679]
AlphaFold E5FYH1
Predicted Effect probably benign
Transcript: ENSMUST00000178679
AA Change: H1207R

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: H1207R

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,516 (GRCm39) E1235G probably damaging Het
Abtb3 A T 10: 85,460,813 (GRCm39) I569F possibly damaging Het
Adam6a A G 12: 113,508,152 (GRCm39) D175G probably benign Het
Adgrf4 A T 17: 42,983,453 (GRCm39) C76* probably null Het
Agbl3 C T 6: 34,823,765 (GRCm39) T815I probably damaging Het
Ahnak2 A G 12: 112,748,383 (GRCm39) V488A not run Het
Akip1 T A 7: 109,311,035 (GRCm39) S192T probably benign Het
Apc2 G A 10: 80,140,749 (GRCm39) M201I probably damaging Het
Arel1 G T 12: 84,987,043 (GRCm39) N124K probably damaging Het
Atp10a A T 7: 58,453,457 (GRCm39) H845L probably damaging Het
Atp2a2 A G 5: 122,599,634 (GRCm39) Y586H probably benign Het
BC051019 A G 7: 109,315,266 (GRCm39) Y330H probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chek2 T G 5: 110,987,916 (GRCm39) probably null Het
Cldn14 A G 16: 93,716,615 (GRCm39) L77S probably damaging Het
Cox15 T C 19: 43,728,380 (GRCm39) K298E possibly damaging Het
Cpt1b G T 15: 89,305,607 (GRCm39) D369E probably benign Het
Cpxm1 T C 2: 130,235,342 (GRCm39) N550S probably benign Het
Csdc2 A G 15: 81,833,399 (GRCm39) E132G possibly damaging Het
Cyb5d2 A T 11: 72,669,702 (GRCm39) C219S probably damaging Het
Erbb4 T C 1: 68,367,278 (GRCm39) T480A probably benign Het
Fndc1 G A 17: 7,983,969 (GRCm39) T1319I unknown Het
Gm5773 T G 3: 93,680,565 (GRCm39) V79G probably damaging Het
Hsf2 G A 10: 57,387,431 (GRCm39) probably null Het
Itgb2l T C 16: 96,238,608 (GRCm39) T64A probably damaging Het
Kifc5b T C 17: 27,143,176 (GRCm39) V316A probably damaging Het
Ktn1 A G 14: 47,907,750 (GRCm39) D279G probably damaging Het
Lonrf1 T C 8: 36,716,206 (GRCm39) E143G possibly damaging Het
Mroh9 C T 1: 162,852,122 (GRCm39) E856K probably benign Het
Muc16 T C 9: 18,568,773 (GRCm39) T1249A unknown Het
Myh6 G A 14: 55,194,607 (GRCm39) R721W probably damaging Het
Myo6 A T 9: 80,183,611 (GRCm39) I669F unknown Het
N4bp2 A G 5: 65,965,802 (GRCm39) T1284A probably damaging Het
Npr3 A G 15: 11,905,724 (GRCm39) M1T probably null Het
Obscn C T 11: 58,990,603 (GRCm39) V1657M probably damaging Het
Olfr908 A G 9: 38,427,624 (GRCm39) T99A possibly damaging Het
Or52a20 A G 7: 103,366,560 (GRCm39) E253G possibly damaging Het
Or52p2 A T 7: 102,237,638 (GRCm39) F104Y probably benign Het
Otud6b C A 4: 14,818,389 (GRCm39) A171S possibly damaging Het
Pdcd2l A C 7: 33,892,256 (GRCm39) D204E probably benign Het
Pdia2 T C 17: 26,417,842 (GRCm39) S56G probably benign Het
Plcxd1 G A 5: 110,250,369 (GRCm39) E237K possibly damaging Het
Plekha5 A T 6: 140,501,712 (GRCm39) R633S probably damaging Het
Pnpla6 T C 8: 3,586,594 (GRCm39) F937L possibly damaging Het
Pth2 A T 7: 44,830,733 (GRCm39) M6L probably benign Het
Ptprd T A 4: 76,004,326 (GRCm39) K143I probably damaging Het
Rhbdf2 T C 11: 116,492,427 (GRCm39) D487G probably benign Het
Rhbdf2 A T 11: 116,494,775 (GRCm39) D300E probably benign Het
Rock2 G A 12: 17,026,048 (GRCm39) V1265I probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtn4 T A 11: 29,683,790 (GRCm39) Y1027* probably null Het
Rxfp3 A G 15: 11,037,216 (GRCm39) L52P probably damaging Het
Sel1l3 A G 5: 53,293,227 (GRCm39) Y830H probably benign Het
Serpinb3d C T 1: 107,007,088 (GRCm39) V207I probably damaging Het
Sipa1l2 T C 8: 126,190,972 (GRCm39) E1006G probably damaging Het
Slc22a19 C T 19: 7,661,201 (GRCm39) M324I possibly damaging Het
Slc37a1 T A 17: 31,535,159 (GRCm39) F106I probably damaging Het
Snx14 A T 9: 88,280,402 (GRCm39) S518T probably benign Het
Sp2 T C 11: 96,851,935 (GRCm39) T330A probably damaging Het
Spata13 A T 14: 60,993,698 (GRCm39) H1050L probably damaging Het
Sptssa A C 12: 54,703,201 (GRCm39) V23G possibly damaging Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tars1 A C 15: 11,399,458 (GRCm39) probably null Het
Tead3 T A 17: 28,551,801 (GRCm39) T431S probably benign Het
Tiam2 G A 17: 3,568,431 (GRCm39) E1526K possibly damaging Het
Tnni3 G A 7: 4,524,891 (GRCm39) P12L probably benign Het
Trdn G T 10: 33,133,058 (GRCm39) E107* probably null Het
Trp63 A G 16: 25,701,375 (GRCm39) N483S probably benign Het
Trpm4 A G 7: 44,957,762 (GRCm39) S1009P probably benign Het
Trpm6 T C 19: 18,804,772 (GRCm39) V908A probably benign Het
Tsen34 A T 7: 3,697,601 (GRCm39) M25L possibly damaging Het
Ttn T C 2: 76,781,827 (GRCm39) E1073G unknown Het
Uaca A T 9: 60,783,677 (GRCm39) I1380F probably damaging Het
Ubr3 A G 2: 69,774,793 (GRCm39) T539A probably benign Het
Ugt1a5 T A 1: 88,094,117 (GRCm39) M115K probably benign Het
Unc45b A T 11: 82,813,726 (GRCm39) I378F probably damaging Het
Unk G A 11: 115,940,262 (GRCm39) R205Q possibly damaging Het
Ush2a T A 1: 188,542,376 (GRCm39) L3314Q probably benign Het
Vezt A G 10: 93,816,286 (GRCm39) L475P probably damaging Het
Vmn2r115 C T 17: 23,564,772 (GRCm39) Q220* probably null Het
Yap1 T C 9: 7,962,379 (GRCm39) Q223R probably benign Het
Zdhhc7 G A 8: 120,813,467 (GRCm39) T114M possibly damaging Het
Zwilch A C 9: 64,060,217 (GRCm39) C374G probably 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
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
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'- ACTCCTGCTGCCAATGTCTTAG -3'
(R):5'- GCAGTTAAGTGAGGTTCTCAGC -3'

Sequencing Primer
(F):5'- TGCTGCCAATGTCTTAGTTATTTC -3'
(R):5'- TCTCAGCAGAGTCAGATTCAGGTC -3'
Posted On 2019-11-26