Incidental Mutation 'R9126:Topaz1'
ID 693261
Institutional Source Beutler Lab
Gene Symbol Topaz1
Ensembl Gene ENSMUSG00000094985
Gene Name testis and ovary specific PAZ domain containing 1
Synonyms Gm9524
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9126 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 122576411-122631200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122625228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1438 (V1438I)
Ref Sequence ENSEMBL: ENSMUSP00000136304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178679]
AlphaFold E5FYH1
Predicted Effect probably benign
Transcript: ENSMUST00000178679
AA Change: V1438I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: V1438I

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 G T 3: 98,068,307 (GRCm39) V47L probably benign Het
Atm T C 9: 53,370,134 (GRCm39) K2323R probably benign Het
Bbx A G 16: 50,020,813 (GRCm39) L865P probably damaging Het
C2cd3 T A 7: 100,081,430 (GRCm39) I1024N Het
Cacna1e A T 1: 154,343,510 (GRCm39) C1161S probably benign Het
Caskin2 A T 11: 115,702,730 (GRCm39) V26E possibly damaging Het
Ccnb3 T G X: 6,874,413 (GRCm39) D722A probably damaging Het
Cep135 C A 5: 76,781,550 (GRCm39) Q846K probably benign Het
Cfap44 A T 16: 44,295,619 (GRCm39) D1639V possibly damaging Het
Cfh G T 1: 140,014,111 (GRCm39) R1238S probably damaging Het
Dctn1 A T 6: 83,169,835 (GRCm39) D712V probably damaging Het
Ddx21 T C 10: 62,424,479 (GRCm39) D574G probably damaging Het
Dele1 A G 18: 38,384,210 (GRCm39) T35A probably benign Het
Dipk1b A G 2: 26,525,989 (GRCm39) T308A probably benign Het
Dlgap5 A G 14: 47,638,989 (GRCm39) I443T probably damaging Het
Dusp7 G A 9: 106,250,966 (GRCm39) V364I Het
Entpd1 G T 19: 40,714,608 (GRCm39) R268L possibly damaging Het
Fermt3 C T 19: 6,979,745 (GRCm39) A463T probably benign Het
Frat2 T C 19: 41,836,106 (GRCm39) D82G probably damaging Het
Git1 T A 11: 77,390,380 (GRCm39) I75N probably damaging Het
Gpr171 T A 3: 59,005,488 (GRCm39) I96F probably damaging Het
Gzmb G T 14: 56,497,845 (GRCm39) R132S probably benign Het
Hecw1 C T 13: 14,546,608 (GRCm39) R132H probably damaging Het
Hey1 T G 3: 8,729,651 (GRCm39) S269R probably benign Het
Hgf T A 5: 16,765,979 (GRCm39) N38K possibly damaging Het
Lag3 T C 6: 124,881,809 (GRCm39) R467G probably damaging Het
Lama3 A T 18: 12,583,527 (GRCm39) H705L probably damaging Het
Lce3f T G 3: 92,900,327 (GRCm39) S49R unknown Het
Lrrc49 T C 9: 60,578,594 (GRCm39) D250G probably damaging Het
Lzts3 T C 2: 130,477,248 (GRCm39) K400R possibly damaging Het
Macc1 T C 12: 119,409,711 (GRCm39) S160P probably benign Het
Macf1 T C 4: 123,276,193 (GRCm39) T6155A possibly damaging Het
Mboat4 C T 8: 34,582,348 (GRCm39) T34I probably benign Het
Nav3 T A 10: 109,541,524 (GRCm39) Q1913L probably benign Het
Notch4 T C 17: 34,800,080 (GRCm39) S1014P probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Or2h1b T C 17: 37,462,123 (GRCm39) T247A possibly damaging Het
Or52z1 T G 7: 103,437,002 (GRCm39) I161L probably benign Het
Orc2 A C 1: 58,515,628 (GRCm39) H293Q probably benign Het
Otoa A G 7: 120,693,845 (GRCm39) Y75C probably damaging Het
Pate2 T A 9: 35,581,908 (GRCm39) probably null Het
Phldb3 G A 7: 24,326,726 (GRCm39) V585I probably damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Pou2f1 A T 1: 165,722,603 (GRCm39) N443K unknown Het
Prkci T A 3: 31,072,793 (GRCm39) F66I probably damaging Het
Ptprz1 C T 6: 23,002,334 (GRCm39) Q1475* probably null Het
Qars1 C T 9: 108,386,399 (GRCm39) R143C probably damaging Het
Reln T C 5: 22,160,194 (GRCm39) D2125G probably damaging Het
Rp1 A T 1: 4,417,136 (GRCm39) D1325E probably damaging Het
Rpl36a-ps1 A T 14: 99,231,694 (GRCm39) C15S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn9a A G 2: 66,314,744 (GRCm39) I1658T probably damaging Het
Serinc1 C T 10: 57,395,577 (GRCm39) G370S probably benign Het
Spef1 G T 2: 131,013,829 (GRCm39) T197K probably damaging Het
Spmap2l A G 5: 77,164,453 (GRCm39) Y152C probably damaging Het
Sptan1 G A 2: 29,920,597 (GRCm39) V2363I probably damaging Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Star T C 8: 26,302,832 (GRCm39) V258A probably benign Het
Sympk T C 7: 18,778,873 (GRCm39) I588T possibly damaging Het
Tas2r136 T C 6: 132,754,584 (GRCm39) N181S probably damaging Het
Tbc1d4 A T 14: 101,724,952 (GRCm39) V555E probably benign Het
Trmt112 T A 19: 6,887,786 (GRCm39) M45K Het
Tshr G A 12: 91,503,992 (GRCm39) R310H probably damaging Het
Ulk4 G T 9: 121,090,988 (GRCm39) P238Q probably damaging Het
Unc5a T C 13: 55,145,774 (GRCm39) L312P possibly damaging Het
Urb1 T C 16: 90,566,290 (GRCm39) D1499G possibly damaging Het
Ushbp1 A G 8: 71,843,653 (GRCm39) S262P probably damaging Het
Vmn1r173 G A 7: 23,402,008 (GRCm39) R81K probably benign Het
Vmn2r5 G A 3: 64,399,159 (GRCm39) P607S probably benign Het
Vtn G T 11: 78,391,256 (GRCm39) G223V probably damaging Het
Zfhx4 T C 3: 5,394,589 (GRCm39) V1061A probably damaging Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp616 T A 11: 73,976,280 (GRCm39) C850S 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
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
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'- AAGTGTCATTGTCATGGTATGC -3'
(R):5'- GATGGAGAAATGTCTTAACTGGC -3'

Sequencing Primer
(F):5'- GGATGTGCTTAATCGGCAT -3'
(R):5'- CTATAGAGGACCTGGGCTCAGTTC -3'
Posted On 2022-01-20