Incidental Mutation 'R6865:Zzz3'
ID 535853
Institutional Source Beutler Lab
Gene Symbol Zzz3
Ensembl Gene ENSMUSG00000039068
Gene Name zinc finger, ZZ domain containing 3
Synonyms 6430567E01Rik, 3110065C23Rik
MMRRC Submission 045027-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6865 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 152101110-152168463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152133690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 249 (D249E)
Ref Sequence ENSEMBL: ENSMUSP00000101707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]
AlphaFold Q6KAQ7
Predicted Effect probably benign
Transcript: ENSMUST00000089982
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D249E

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 benign
Transcript: ENSMUST00000106100
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D249E

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: ENSMUST00000106101
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D249E

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
SMART Domains Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068

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 probably benign
Transcript: ENSMUST00000200570
SMART Domains Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068

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: 99.4%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,320,212 (GRCm39) M293L possibly damaging Het
Ankrd11 T C 8: 123,621,683 (GRCm39) D723G probably benign Het
Ankrd26 T C 6: 118,500,442 (GRCm39) R1010G possibly damaging Het
Apob G A 12: 8,058,847 (GRCm39) R2410H probably benign Het
Auh T C 13: 52,992,165 (GRCm39) D275G probably damaging Het
Card10 G T 15: 78,686,822 (GRCm39) D47E possibly damaging Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Cfap206 T C 4: 34,714,448 (GRCm39) Y416C possibly damaging Het
Chuk A T 19: 44,075,354 (GRCm39) Y500* probably null Het
Cop1 T A 1: 159,136,524 (GRCm39) D536E probably damaging Het
Crh G C 3: 19,748,304 (GRCm39) P113A possibly damaging Het
Ddx54 T G 5: 120,759,892 (GRCm39) probably null Het
Efcab7 T C 4: 99,769,793 (GRCm39) S127P probably damaging Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Fga T A 3: 82,938,848 (GRCm39) C408S probably damaging Het
Flot2 T C 11: 77,940,318 (GRCm39) S22P probably benign Het
Fndc1 T A 17: 7,991,672 (GRCm39) T675S unknown Het
Foxc1 A G 13: 31,992,836 (GRCm39) D549G unknown Het
Gldc T C 19: 30,111,162 (GRCm39) N538S possibly damaging Het
Grk4 T G 5: 34,888,894 (GRCm39) V346G probably damaging Het
Gucy2c T C 6: 136,747,127 (GRCm39) R111G probably benign Het
Heatr6 C T 11: 83,659,966 (GRCm39) H504Y probably damaging Het
Lrp5 A T 19: 3,670,013 (GRCm39) probably null Het
Msrb1 T C 17: 24,955,685 (GRCm39) S2P possibly damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo3a A G 2: 22,464,313 (GRCm39) I185V probably benign Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Nek6 A G 2: 38,459,678 (GRCm39) I174V probably benign Het
Nmt2 T C 2: 3,315,766 (GRCm39) V252A probably damaging Het
Nudt9 G T 5: 104,207,545 (GRCm39) R179M probably damaging Het
Nwd1 T C 8: 73,383,690 (GRCm39) V29A possibly damaging Het
Olah T C 2: 3,343,964 (GRCm39) D216G possibly damaging Het
Or13c7b T C 4: 43,821,346 (GRCm39) N5S probably benign Het
Or52n2 T C 7: 104,542,719 (GRCm39) I39V probably benign Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pkd1 T C 17: 24,795,461 (GRCm39) V2318A probably benign Het
Pknox1 T A 17: 31,807,534 (GRCm39) M51K probably damaging Het
Ppp1r12a C T 10: 108,098,242 (GRCm39) R321* probably null Het
Pxdn A G 12: 30,064,582 (GRCm39) probably null Het
Rab44 A T 17: 29,358,201 (GRCm39) I130F probably benign Het
Rnf130 T C 11: 49,962,091 (GRCm39) I179T probably damaging Het
Slc22a28 A T 19: 8,041,856 (GRCm39) C450* probably null Het
Slco1c1 A T 6: 141,485,778 (GRCm39) Y136F probably damaging Het
Synj2 C T 17: 6,067,844 (GRCm39) Q106* probably null Het
Uckl1 T C 2: 181,216,286 (GRCm39) N138S probably damaging Het
Usp19 G T 9: 108,376,018 (GRCm39) E203* probably null Het
Vdr A G 15: 97,755,386 (GRCm39) I379T probably damaging Het
Zfp503 C A 14: 22,036,101 (GRCm39) G272C probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S 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
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
R7732:Zzz3 UTSW 3 152,154,479 (GRCm39) missense probably damaging 1.00
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'- GGAAGGGCCACTTAATGCTG -3'
(R):5'- ACTGCTCTTTGGAGGCACTG -3'

Sequencing Primer
(F):5'- GCCACTTAATGCTGCAGTAGTAG -3'
(R):5'- CCTCAGAATCTCTTAAGGATGACTG -3'
Posted On 2018-10-18