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: 0.092) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122747346-122802135 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122799485 bp (GRCm38)
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: 122,054,261 (GRCm38) M77K probably benign Het
Amy1 A G 3: 113,556,120 (GRCm38) V467A probably damaging Het
Atf4 T C 15: 80,256,330 (GRCm38) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm38) N373D probably damaging Het
Bpifa3 A G 2: 154,135,578 (GRCm38) K112R probably damaging Het
Chd2 T A 7: 73,491,357 (GRCm38) Y596F possibly damaging Het
Clspn T C 4: 126,578,418 (GRCm38) S962P probably damaging Het
Cyp2c68 T C 19: 39,734,318 (GRCm38) D262G possibly damaging Het
Dcaf11 T C 14: 55,565,695 (GRCm38) I282T probably damaging Het
Dmxl1 T C 18: 49,957,395 (GRCm38) probably null Het
Dnah11 T G 12: 118,023,935 (GRCm38) K2411Q probably damaging Het
Elf3 A G 1: 135,256,482 (GRCm38) V196A probably benign Het
Fhad1 T G 4: 141,954,116 (GRCm38) T538P probably damaging Het
Fkbp10 A G 11: 100,421,023 (GRCm38) D174G probably damaging Het
Gas6 A G 8: 13,477,098 (GRCm38) S217P probably damaging Het
Gm4778 T A 3: 94,266,652 (GRCm38) H322Q possibly damaging Het
Heatr5b C T 17: 78,766,875 (GRCm38) probably null Het
Iqgap3 A G 3: 88,115,908 (GRCm38) E502G probably benign Het
Klc1 T C 12: 111,795,627 (GRCm38) V577A possibly damaging Het
Lck T C 4: 129,551,638 (GRCm38) probably null Het
Mc3r C A 2: 172,249,690 (GRCm38) Y277* probably null Het
Mlxipl T C 5: 135,133,604 (GRCm38) V640A probably benign Het
Mrc2 A T 11: 105,332,343 (GRCm38) N471Y probably damaging Het
Ncan T A 8: 70,102,017 (GRCm38) H1050L probably damaging Het
Nrl C A 14: 55,522,432 (GRCm38) V13F probably damaging Het
Obscn T A 11: 59,076,256 (GRCm38) Y546F probably damaging Het
Olfr214 A G 6: 116,557,113 (GRCm38) I229M probably damaging Het
Olfr654 T G 7: 104,587,890 (GRCm38) S46A probably benign Het
Olfr799 A G 10: 129,648,091 (GRCm38) probably null Het
Pde3b G A 7: 114,521,692 (GRCm38) G684D probably damaging Het
Prkaa1 C T 15: 5,174,342 (GRCm38) T244I probably benign Het
Scfd2 A T 5: 74,206,398 (GRCm38) probably null Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Smg1 A T 7: 118,145,590 (GRCm38) V3113D possibly damaging Het
Sorbs1 T C 19: 40,376,881 (GRCm38) T153A probably benign Het
Spag16 A G 1: 69,870,289 (GRCm38) T182A probably benign Het
Svs2 T C 2: 164,237,669 (GRCm38) K106R possibly damaging Het
Tenm1 A G X: 43,074,695 (GRCm38) V107A possibly damaging Het
Tubgcp2 C A 7: 140,032,225 (GRCm38) E78* probably null Het
Vars A G 17: 35,005,481 (GRCm38) probably null Het
Vmn2r109 A T 17: 20,554,305 (GRCm38) W263R probably benign Het
Other mutations in Topaz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Topaz1 UTSW 9 122,775,609 (GRCm38) missense probably benign 0.08
R0098:Topaz1 UTSW 9 122,790,123 (GRCm38) missense possibly damaging 0.93
R0098:Topaz1 UTSW 9 122,790,123 (GRCm38) missense possibly damaging 0.93
R0108:Topaz1 UTSW 9 122,775,609 (GRCm38) missense probably benign 0.08
R0220:Topaz1 UTSW 9 122,749,303 (GRCm38) missense possibly damaging 0.53
R0519:Topaz1 UTSW 9 122,749,479 (GRCm38) missense possibly damaging 0.53
R0617:Topaz1 UTSW 9 122,749,906 (GRCm38) missense possibly damaging 0.73
R0637:Topaz1 UTSW 9 122,797,662 (GRCm38) missense probably benign
R0637:Topaz1 UTSW 9 122,791,477 (GRCm38) nonsense probably null
R1368:Topaz1 UTSW 9 122,748,250 (GRCm38) missense possibly damaging 0.72
R1519:Topaz1 UTSW 9 122,767,011 (GRCm38) missense probably benign 0.33
R1526:Topaz1 UTSW 9 122,796,043 (GRCm38) missense probably damaging 0.98
R1634:Topaz1 UTSW 9 122,780,675 (GRCm38) splice site probably benign
R1871:Topaz1 UTSW 9 122,799,479 (GRCm38) missense probably benign 0.18
R1879:Topaz1 UTSW 9 122,749,619 (GRCm38) missense possibly damaging 0.70
R1913:Topaz1 UTSW 9 122,767,013 (GRCm38) missense possibly damaging 0.73
R1977:Topaz1 UTSW 9 122,747,362 (GRCm38) missense unknown
R1989:Topaz1 UTSW 9 122,750,125 (GRCm38) missense possibly damaging 0.86
R2237:Topaz1 UTSW 9 122,771,147 (GRCm38) missense probably benign
R2238:Topaz1 UTSW 9 122,771,147 (GRCm38) missense probably benign
R2239:Topaz1 UTSW 9 122,771,147 (GRCm38) missense probably benign
R3160:Topaz1 UTSW 9 122,749,381 (GRCm38) missense probably benign 0.33
R3161:Topaz1 UTSW 9 122,749,381 (GRCm38) missense probably benign 0.33
R3162:Topaz1 UTSW 9 122,749,381 (GRCm38) missense probably benign 0.33
R3821:Topaz1 UTSW 9 122,797,783 (GRCm38) missense possibly damaging 0.85
R3822:Topaz1 UTSW 9 122,797,783 (GRCm38) missense possibly damaging 0.85
R3944:Topaz1 UTSW 9 122,750,604 (GRCm38) missense possibly damaging 0.73
R4571:Topaz1 UTSW 9 122,747,436 (GRCm38) missense probably benign 0.01
R4580:Topaz1 UTSW 9 122,747,515 (GRCm38) missense probably null 0.00
R5043:Topaz1 UTSW 9 122,748,404 (GRCm38) missense probably benign
R5084:Topaz1 UTSW 9 122,748,818 (GRCm38) missense probably benign 0.04
R5234:Topaz1 UTSW 9 122,790,193 (GRCm38) missense possibly damaging 0.82
R5388:Topaz1 UTSW 9 122,774,093 (GRCm38) missense possibly damaging 0.96
R5471:Topaz1 UTSW 9 122,791,416 (GRCm38) splice site probably null
R5993:Topaz1 UTSW 9 122,749,039 (GRCm38) missense probably benign 0.00
R6104:Topaz1 UTSW 9 122,749,866 (GRCm38) missense probably benign
R6137:Topaz1 UTSW 9 122,797,756 (GRCm38) missense possibly damaging 0.53
R6186:Topaz1 UTSW 9 122,748,826 (GRCm38) missense probably benign 0.33
R6209:Topaz1 UTSW 9 122,750,505 (GRCm38) missense possibly damaging 0.85
R6543:Topaz1 UTSW 9 122,748,535 (GRCm38) missense possibly damaging 0.53
R6548:Topaz1 UTSW 9 122,748,354 (GRCm38) missense possibly damaging 0.53
R6557:Topaz1 UTSW 9 122,748,895 (GRCm38) missense probably benign 0.02
R6636:Topaz1 UTSW 9 122,749,786 (GRCm38) missense probably benign 0.33
R6637:Topaz1 UTSW 9 122,749,786 (GRCm38) missense probably benign 0.33
R6859:Topaz1 UTSW 9 122,801,958 (GRCm38) missense probably benign 0.33
R7123:Topaz1 UTSW 9 122,748,415 (GRCm38) missense probably damaging 1.00
R7180:Topaz1 UTSW 9 122,797,705 (GRCm38) missense possibly damaging 0.85
R7319:Topaz1 UTSW 9 122,750,363 (GRCm38) missense possibly damaging 0.73
R7743:Topaz1 UTSW 9 122,785,136 (GRCm38) missense probably benign 0.16
R7810:Topaz1 UTSW 9 122,749,185 (GRCm38) missense probably benign 0.18
R7871:Topaz1 UTSW 9 122,780,700 (GRCm38) missense possibly damaging 0.96
R7875:Topaz1 UTSW 9 122,749,587 (GRCm38) missense possibly damaging 0.53
R7916:Topaz1 UTSW 9 122,747,434 (GRCm38) missense probably benign 0.05
R8116:Topaz1 UTSW 9 122,775,643 (GRCm38) missense probably benign 0.00
R8437:Topaz1 UTSW 9 122,781,362 (GRCm38) nonsense probably null
R8470:Topaz1 UTSW 9 122,774,108 (GRCm38) missense probably benign
R8487:Topaz1 UTSW 9 122,749,936 (GRCm38) missense possibly damaging 0.85
R8493:Topaz1 UTSW 9 122,750,508 (GRCm38) missense probably benign 0.33
R8919:Topaz1 UTSW 9 122,797,865 (GRCm38) splice site probably benign
R8922:Topaz1 UTSW 9 122,796,036 (GRCm38) missense possibly damaging 0.51
R9019:Topaz1 UTSW 9 122,790,127 (GRCm38) missense possibly damaging 0.52
R9126:Topaz1 UTSW 9 122,796,163 (GRCm38) missense probably benign 0.33
R9230:Topaz1 UTSW 9 122,767,032 (GRCm38) missense probably benign
R9302:Topaz1 UTSW 9 122,788,822 (GRCm38) missense possibly damaging 0.93
R9408:Topaz1 UTSW 9 122,797,663 (GRCm38) missense probably benign 0.02
R9469:Topaz1 UTSW 9 122,748,520 (GRCm38) missense probably damaging 0.98
R9487:Topaz1 UTSW 9 122,775,642 (GRCm38) missense probably benign 0.08
R9557:Topaz1 UTSW 9 122,749,465 (GRCm38) missense possibly damaging 0.85
R9564:Topaz1 UTSW 9 122,750,154 (GRCm38) missense probably benign 0.33
R9726:Topaz1 UTSW 9 122,774,870 (GRCm38) critical splice donor site probably benign
R9726:Topaz1 UTSW 9 122,774,869 (GRCm38) critical splice donor site probably benign
X0020:Topaz1 UTSW 9 122,774,069 (GRCm38) missense possibly damaging 0.96
Z1176:Topaz1 UTSW 9 122,791,494 (GRCm38) 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