Incidental Mutation 'R7732:Zzz3'
ID 595889
Institutional Source Beutler Lab
Gene Symbol Zzz3
Ensembl Gene ENSMUSG00000039068
Gene Name zinc finger, ZZ domain containing 3
Synonyms 6430567E01Rik, 3110065C23Rik
MMRRC Submission 045788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7732 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 152101110-152168463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152154479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 577 (Y577H)
Ref Sequence ENSEMBL: ENSMUSP00000101706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]
AlphaFold Q6KAQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000089982
AA Change: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: Y577H

DomainStartEndE-ValueType
SANT 657 711 1.42e-9 SMART
low complexity region 776 787 N/A INTRINSIC
low complexity region 799 814 N/A INTRINSIC
ZnF_ZZ 823 871 6.46e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106100
AA Change: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: Y577H

DomainStartEndE-ValueType
SANT 658 712 1.42e-9 SMART
low complexity region 777 788 N/A INTRINSIC
low complexity region 800 815 N/A INTRINSIC
ZnF_ZZ 824 872 6.46e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106101
AA Change: Y577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: Y577H

DomainStartEndE-ValueType
SANT 658 712 1.42e-9 SMART
low complexity region 777 788 N/A INTRINSIC
low complexity region 800 815 N/A INTRINSIC
ZnF_ZZ 824 872 6.46e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106103
AA Change: Y76H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: Y76H

DomainStartEndE-ValueType
SANT 157 211 1.42e-9 SMART
low complexity region 276 287 N/A INTRINSIC
low complexity region 299 314 N/A INTRINSIC
ZnF_ZZ 323 371 6.46e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200570
AA Change: Y81H

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: Y81H

DomainStartEndE-ValueType
SANT 161 215 1.42e-9 SMART
low complexity region 280 291 N/A INTRINSIC
low complexity region 303 318 N/A INTRINSIC
ZnF_ZZ 327 375 6.46e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,075,451 (GRCm39) S121T possibly damaging Het
Alpk1 T C 3: 127,478,041 (GRCm39) M69V Het
Ap3m2 G T 8: 23,287,105 (GRCm39) D192E probably benign Het
Arel1 A G 12: 84,974,663 (GRCm39) V493A probably benign Het
Arhgap27 T C 11: 103,230,869 (GRCm39) H140R probably benign Het
Bcat2 C T 7: 45,234,617 (GRCm39) T166M possibly damaging Het
Brd4 C A 17: 32,440,386 (GRCm39) A318S unknown Het
Cabp4 T A 19: 4,185,994 (GRCm39) T270S probably benign Het
Cd22 G A 7: 30,569,482 (GRCm39) R545C probably damaging Het
Cdc23 C A 18: 34,769,755 (GRCm39) probably null Het
Chst4 G A 8: 110,756,514 (GRCm39) Q450* probably null Het
Ctsc G A 7: 87,946,367 (GRCm39) R132Q probably damaging Het
Cyp2b19 A G 7: 26,470,769 (GRCm39) D470G possibly damaging Het
Dcc C T 18: 71,579,506 (GRCm39) G689D probably benign Het
Disc1 G T 8: 125,977,714 (GRCm39) G779* probably null Het
Dock1 T G 7: 134,346,699 (GRCm39) D210E probably benign Het
Dynlt1a A G 17: 6,365,220 (GRCm39) V14A probably benign Het
Dynlt2a3 A G 17: 15,187,947 (GRCm39) V109A probably benign Het
Epha10 A G 4: 124,809,092 (GRCm39) D779G Het
Eprs1 A G 1: 185,105,136 (GRCm39) H137R probably benign Het
Eps15l1 A C 8: 73,134,820 (GRCm39) L447R probably damaging Het
Esyt1 A G 10: 128,357,694 (GRCm39) probably null Het
Fam221a A G 6: 49,349,563 (GRCm39) K43E probably benign Het
Fanci A G 7: 79,062,400 (GRCm39) S309G possibly damaging Het
Fbxo48 T A 11: 16,903,601 (GRCm39) W76R probably damaging Het
Fgd4 A G 16: 16,302,459 (GRCm39) V32A probably benign Het
Foxe1 A T 4: 46,345,287 (GRCm39) D365V unknown Het
Gabrd C T 4: 155,470,075 (GRCm39) R378H probably benign Het
Greb1 A G 12: 16,723,864 (GRCm39) S1862P probably damaging Het
H2al2b T C Y: 2,720,436 (GRCm39) H80R possibly damaging Het
Hectd4 T C 5: 121,474,692 (GRCm39) V2771A probably benign Het
Hoxa11 A T 6: 52,220,415 (GRCm39) F289L probably damaging Het
Hsp90aa1 A G 12: 110,659,852 (GRCm39) V412A probably damaging Het
Igsf11 A G 16: 38,829,160 (GRCm39) Q77R probably damaging Het
Lrig1 C A 6: 94,603,358 (GRCm39) M263I probably benign Het
Ms4a14 C T 19: 11,279,047 (GRCm39) M1170I probably benign Het
Ndufs7 G A 10: 80,089,618 (GRCm39) probably null Het
Nectin4 A T 1: 171,214,246 (GRCm39) E467V probably benign Het
Or8d1b A G 9: 38,887,560 (GRCm39) E196G probably damaging Het
Otogl G A 10: 107,642,525 (GRCm39) H1302Y probably benign Het
Pigg A G 5: 108,466,841 (GRCm39) S241G probably benign Het
Pip4p1 C T 14: 51,168,090 (GRCm39) G48D possibly damaging Het
Pom121l12 T A 11: 14,549,843 (GRCm39) V183D probably damaging Het
Prickle2 T A 6: 92,388,205 (GRCm39) E455V probably damaging Het
Ptpn4 A C 1: 119,620,532 (GRCm39) V488G probably benign Het
Ranbp10 A G 8: 106,499,723 (GRCm39) I502T probably benign Het
Raph1 T A 1: 60,572,447 (GRCm39) Q40L possibly damaging Het
Rgs22 A T 15: 36,026,127 (GRCm39) C1056S probably damaging Het
Serpinb6b G A 13: 33,152,590 (GRCm39) S33N probably damaging Het
Serpinb6d A G 13: 33,853,082 (GRCm39) N158S probably benign Het
Serping1 A T 2: 84,600,448 (GRCm39) V298D probably damaging Het
Sgsm1 T A 5: 113,414,196 (GRCm39) H637L probably benign Het
Sh3rf2 G T 18: 42,234,753 (GRCm39) V179L probably damaging Het
Slc1a3 T C 15: 8,680,472 (GRCm39) T129A probably benign Het
Slit1 T A 19: 41,592,847 (GRCm39) Y1202F probably benign Het
Spsb2 T C 6: 124,786,656 (GRCm39) S130P probably damaging Het
Sulf1 A G 1: 12,913,013 (GRCm39) D749G probably benign Het
Taok3 A G 5: 117,331,813 (GRCm39) E10G possibly damaging Het
Tbl3 G T 17: 24,923,136 (GRCm39) A368D probably benign Het
Tdh T A 14: 63,733,507 (GRCm39) H127L probably damaging Het
Tmem205 C A 9: 21,838,703 (GRCm39) probably null Het
Tmem30a A C 9: 79,687,826 (GRCm39) F114L possibly damaging Het
Tmprss15 T C 16: 78,800,308 (GRCm39) K607E probably benign Het
Tnxb A T 17: 34,913,254 (GRCm39) D1756V probably damaging Het
Trhde A G 10: 114,623,969 (GRCm39) F312L probably benign Het
Ttn G A 2: 76,656,793 (GRCm39) P12494L probably null Het
Vmn2r61 A G 7: 41,916,097 (GRCm39) R237G probably benign Het
Vps13c A T 9: 67,847,798 (GRCm39) N2187Y probably damaging Het
Wdr64 A G 1: 175,617,495 (GRCm39) T692A probably benign Het
Whamm A G 7: 81,221,172 (GRCm39) N35D probably damaging Het
Wnt2 T C 6: 18,023,335 (GRCm39) S105G probably damaging Het
Zfp108 T A 7: 23,960,952 (GRCm39) H514Q probably benign Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign Het
Znfx1 T C 2: 166,884,589 (GRCm39) K888E possibly damaging Het
Other mutations in Zzz3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Zzz3 APN 3 152,134,151 (GRCm39) missense probably benign 0.16
IGL00707:Zzz3 APN 3 152,154,680 (GRCm39) nonsense probably null
IGL00983:Zzz3 APN 3 152,161,447 (GRCm39) splice site probably benign
IGL01586:Zzz3 APN 3 152,161,476 (GRCm39) missense possibly damaging 0.80
IGL01973:Zzz3 APN 3 152,134,007 (GRCm39) missense probably benign 0.00
IGL02002:Zzz3 APN 3 152,157,006 (GRCm39) missense probably damaging 0.98
IGL02009:Zzz3 APN 3 152,133,752 (GRCm39) missense possibly damaging 0.80
IGL02260:Zzz3 APN 3 152,157,720 (GRCm39) missense probably benign 0.04
IGL02336:Zzz3 APN 3 152,133,696 (GRCm39) missense possibly damaging 0.74
IGL02454:Zzz3 APN 3 152,134,211 (GRCm39) missense probably benign 0.03
IGL02519:Zzz3 APN 3 152,133,027 (GRCm39) missense probably damaging 1.00
R0067:Zzz3 UTSW 3 152,134,040 (GRCm39) missense possibly damaging 0.88
R0067:Zzz3 UTSW 3 152,134,040 (GRCm39) missense possibly damaging 0.88
R0314:Zzz3 UTSW 3 152,133,085 (GRCm39) missense probably benign 0.00
R0536:Zzz3 UTSW 3 152,154,465 (GRCm39) missense probably damaging 1.00
R1706:Zzz3 UTSW 3 152,154,735 (GRCm39) missense probably damaging 1.00
R2869:Zzz3 UTSW 3 152,152,481 (GRCm39) synonymous silent
R2870:Zzz3 UTSW 3 152,152,481 (GRCm39) synonymous silent
R2871:Zzz3 UTSW 3 152,152,481 (GRCm39) synonymous silent
R2872:Zzz3 UTSW 3 152,152,481 (GRCm39) synonymous silent
R3927:Zzz3 UTSW 3 152,161,499 (GRCm39) missense probably damaging 1.00
R4195:Zzz3 UTSW 3 152,134,102 (GRCm39) missense probably benign 0.02
R4768:Zzz3 UTSW 3 152,154,420 (GRCm39) missense probably damaging 1.00
R5248:Zzz3 UTSW 3 152,133,182 (GRCm39) missense probably damaging 0.99
R5566:Zzz3 UTSW 3 152,161,461 (GRCm39) missense probably damaging 1.00
R5752:Zzz3 UTSW 3 152,157,759 (GRCm39) missense possibly damaging 0.48
R5782:Zzz3 UTSW 3 152,133,737 (GRCm39) missense possibly damaging 0.69
R5884:Zzz3 UTSW 3 152,156,295 (GRCm39) missense probably damaging 1.00
R6008:Zzz3 UTSW 3 152,133,788 (GRCm39) missense probably benign 0.01
R6155:Zzz3 UTSW 3 152,133,319 (GRCm39) missense possibly damaging 0.57
R6557:Zzz3 UTSW 3 152,134,097 (GRCm39) missense probably damaging 1.00
R6865:Zzz3 UTSW 3 152,133,690 (GRCm39) missense probably benign 0.01
R7344:Zzz3 UTSW 3 152,157,736 (GRCm39) missense probably damaging 0.98
R7588:Zzz3 UTSW 3 152,128,405 (GRCm39) missense possibly damaging 0.85
R7636:Zzz3 UTSW 3 152,133,289 (GRCm39) missense probably benign
R8157:Zzz3 UTSW 3 152,155,285 (GRCm39) missense probably null 0.71
R8490:Zzz3 UTSW 3 152,134,290 (GRCm39) nonsense probably null
R8926:Zzz3 UTSW 3 152,133,529 (GRCm39) missense possibly damaging 0.76
R9143:Zzz3 UTSW 3 152,163,908 (GRCm39) missense probably benign 0.04
R9243:Zzz3 UTSW 3 152,133,920 (GRCm39) missense probably damaging 1.00
R9494:Zzz3 UTSW 3 152,133,468 (GRCm39) missense possibly damaging 0.88
R9540:Zzz3 UTSW 3 152,156,306 (GRCm39) nonsense probably null
X0018:Zzz3 UTSW 3 152,134,370 (GRCm39) missense possibly damaging 0.88
Z1176:Zzz3 UTSW 3 152,154,734 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TATAAAGTTGCTGCCGGTACAC -3'
(R):5'- TTTTGGTCTAGCGGGCAAC -3'

Sequencing Primer
(F):5'- CACGTCGTATTTAGCACTCTATGAG -3'
(R):5'- GGACACTACAAGACATTTTC -3'
Posted On 2019-11-12