Incidental Mutation 'R1706:Zzz3'
ID 190057
Institutional Source Beutler Lab
Gene Symbol Zzz3
Ensembl Gene ENSMUSG00000039068
Gene Name zinc finger, ZZ domain containing 3
Synonyms 6430567E01Rik, 3110065C23Rik
MMRRC Submission 039739-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1706 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152101110-152168463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152154735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 633 (D633E)
Ref Sequence ENSEMBL: ENSMUSP00000101707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]
AlphaFold Q6KAQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000089982
AA Change: D632E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D632E

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: D633E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D633E

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: D633E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D633E

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: ENSMUST00000106103
AA Change: D132E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: D132E

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 noncoding transcript
Transcript: ENSMUST00000150802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197987
Predicted Effect possibly damaging
Transcript: ENSMUST00000200570
AA Change: D136E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: D136E

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
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,624,059 (GRCm39) probably benign Het
4931406C07Rik G A 9: 15,209,153 (GRCm39) T47I probably damaging Het
Adcy2 T A 13: 68,868,865 (GRCm39) N558I probably damaging Het
Ago3 G A 4: 126,264,085 (GRCm39) P374S probably damaging Het
Ak8 T C 2: 28,650,007 (GRCm39) C345R possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
BC005624 T C 2: 30,868,922 (GRCm39) E84G possibly damaging Het
Cav1 T C 6: 17,339,181 (GRCm39) F89L probably damaging Het
Cfap206 G A 4: 34,688,875 (GRCm39) P593L probably damaging Het
Clcn6 G A 4: 148,102,025 (GRCm39) T353I probably benign Het
Cstl1 G A 2: 148,593,079 (GRCm39) probably null Het
Cyp2d10 A C 15: 82,289,783 (GRCm39) S140A probably damaging Het
D130052B06Rik G A 11: 33,566,230 (GRCm39) R18H unknown Het
Ddi2 A G 4: 141,411,308 (GRCm39) F535L probably benign Het
Dop1a C T 9: 86,436,133 (GRCm39) T2383M possibly damaging Het
Duox1 A G 2: 122,149,953 (GRCm39) T115A probably benign Het
Ercc6l2 T A 13: 64,020,272 (GRCm39) probably benign Het
Gm7052 A G 17: 22,258,823 (GRCm39) probably benign Het
Gm9925 G A 18: 74,198,573 (GRCm39) probably benign Het
Gnas T A 2: 174,141,768 (GRCm39) S646T possibly damaging Het
Gpatch3 T A 4: 133,302,484 (GRCm39) C138* probably null Het
Igsf8 C T 1: 172,144,972 (GRCm39) R100C probably damaging Het
Kcnh3 A G 15: 99,135,959 (GRCm39) K652R possibly damaging Het
Kcnn4 T A 7: 24,074,167 (GRCm39) V77E probably damaging Het
Kif13b T A 14: 64,998,115 (GRCm39) probably benign Het
Lca5l T C 16: 95,977,164 (GRCm39) N214S probably benign Het
Luc7l3 T C 11: 94,188,582 (GRCm39) probably benign Het
Lypd3 T C 7: 24,339,755 (GRCm39) I274T probably benign Het
Macf1 A G 4: 123,264,377 (GRCm39) probably null Het
Mchr1 A G 15: 81,121,364 (GRCm39) Y38C probably damaging Het
Mia2 T A 12: 59,191,552 (GRCm39) L716* probably null Het
Mki67 A G 7: 135,302,295 (GRCm39) L913P probably benign Het
Mug2 T A 6: 122,013,191 (GRCm39) probably benign Het
Neu3 A G 7: 99,472,563 (GRCm39) L58P probably damaging Het
Or4p23 G A 2: 88,576,482 (GRCm39) P250L probably damaging Het
Or8h9 A T 2: 86,789,424 (GRCm39) I126N probably damaging Het
Pak1ip1 T C 13: 41,166,164 (GRCm39) V363A probably benign Het
Pcdhb16 A G 18: 37,612,705 (GRCm39) D555G probably benign Het
Pygb G A 2: 150,669,067 (GRCm39) G671D probably damaging Het
Rab30 A T 7: 92,478,875 (GRCm39) I79L possibly damaging Het
Rab44 C A 17: 29,357,080 (GRCm39) T70K probably damaging Het
Rccd1 C G 7: 79,970,411 (GRCm39) G69R possibly damaging Het
Sema5b T C 16: 35,470,125 (GRCm39) V329A probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slc22a14 T C 9: 119,010,050 (GRCm39) N15S probably benign Het
Smurf2 G A 11: 106,715,573 (GRCm39) H632Y probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tgm6 T C 2: 129,987,079 (GRCm39) C516R possibly damaging Het
Tmprss9 T C 10: 80,734,021 (GRCm39) probably benign Het
Trim67 A G 8: 125,521,160 (GRCm39) N174S probably damaging Het
Ttc8 C A 12: 98,910,142 (GRCm39) T123K probably benign Het
Ugt1a7c T A 1: 88,023,447 (GRCm39) M202K probably damaging Het
Vmn2r7 T A 3: 64,598,880 (GRCm39) H559L possibly damaging Het
Zfp511 A G 7: 139,617,192 (GRCm39) D96G probably benign Het
Zfp868 A G 8: 70,065,060 (GRCm39) Y92H probably benign 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
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
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'- CCAGTACACCAATAGCCTTGGGAAC -3'
(R):5'- GGCCACATCTGAAATCCTGGTCAC -3'

Sequencing Primer
(F):5'- TTTGATAAAGGTAAGAACCCACACG -3'
(R):5'- GAAATCCTGGTCACACTTTATAGTGC -3'
Posted On 2014-05-14