Incidental Mutation 'R5706:Topaz1'
ID 451981
Institutional Source Beutler Lab
Gene Symbol Topaz1
Ensembl Gene ENSMUSG00000094985
Gene Name testis and ovary specific PAZ domain containing 1
Synonyms Gm9524
MMRRC Submission 043331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122576411-122631200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122628550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1546 (I1546F)
Ref Sequence ENSEMBL: ENSMUSP00000136304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178679]
AlphaFold E5FYH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000178679
AA Change: I1546F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136304
Gene: ENSMUSG00000094985
AA Change: I1546F

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
Atf4 T C 15: 80,140,531 (GRCm39) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dcaf11 T C 14: 55,803,152 (GRCm39) I282T probably damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Fkbp10 A G 11: 100,311,849 (GRCm39) D174G probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or52u1 T G 7: 104,237,097 (GRCm39) S46A probably benign Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Spopfm1 T A 3: 94,173,959 (GRCm39) H322Q possibly damaging Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R 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
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
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'- GCAGTGTCAAATTGTCAAGATGC -3'
(R):5'- CTATAGGGCAGGCATAGAGC -3'

Sequencing Primer
(F):5'- ATAGCTACCCTGACCTGTAAGTGG -3'
(R):5'- CAGGCATAGAGCTGCATCTATGTTC -3'
Posted On 2017-01-03