Incidental Mutation 'IGL02336:Zzz3'
ID 288848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zzz3
Ensembl Gene ENSMUSG00000039068
Gene Name zinc finger, ZZ domain containing 3
Synonyms 3110065C23Rik, 6430567E01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02336
Quality Score
Status
Chromosome 3
Chromosomal Location 152395473-152462826 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 152428059 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 251 (D251E)
Ref Sequence ENSEMBL: ENSMUSP00000101707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]
AlphaFold Q6KAQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000089982
AA Change: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D251E

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 possibly damaging
Transcript: ENSMUST00000106100
AA Change: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D251E

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 possibly damaging
Transcript: ENSMUST00000106101
AA Change: D251E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D251E

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 noncoding transcript
Transcript: ENSMUST00000138115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197987
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,032 V2127A probably damaging Het
Accsl A G 2: 93,865,908 V119A possibly damaging Het
Adamts12 T A 15: 11,311,245 M1196K probably benign Het
Adgre1 T A 17: 57,411,024 C345* probably null Het
Adrb2 T C 18: 62,179,007 E249G probably benign Het
Amdhd1 T A 10: 93,524,429 I423F probably benign Het
Ankhd1 A G 18: 36,594,814 N501S probably damaging Het
Cd180 T A 13: 102,705,313 I289N probably damaging Het
Chst5 T A 8: 111,890,317 I224F probably damaging Het
Cox6a2 A G 7: 128,205,931 I60T possibly damaging Het
Dnajc6 C T 4: 101,614,286 probably null Het
Dpp6 G A 5: 27,469,411 E179K probably benign Het
Fasn G A 11: 120,813,736 T1341I possibly damaging Het
Fat1 C T 8: 44,951,583 T457I probably benign Het
Filip1l A T 16: 57,571,733 probably null Het
Gje1 A T 10: 14,716,669 I123N probably damaging Het
Gli3 A G 13: 15,720,289 T683A probably damaging Het
Gm29326 C A 7: 29,561,408 noncoding transcript Het
Gm5460 A G 14: 34,043,952 probably benign Het
Hspa4 C T 11: 53,262,373 S739N probably benign Het
Ighv1-42 T A 12: 114,937,265 I67F probably damaging Het
Iqgap1 A G 7: 80,752,293 V408A probably benign Het
Kdm7a A T 6: 39,170,264 W250R probably damaging Het
Kif5a A G 10: 127,242,696 I360T possibly damaging Het
Maml1 T C 11: 50,258,165 N916S probably benign Het
Mier2 A T 10: 79,548,350 probably benign Het
Mpst A T 15: 78,410,274 T69S probably benign Het
Nlk C A 11: 78,586,937 V327F probably damaging Het
Nme5 A T 18: 34,578,677 S4T probably benign Het
Notch2 A G 3: 98,138,395 I1625M possibly damaging Het
Nup210l T C 3: 90,181,552 probably null Het
Oas1d A G 5: 120,919,048 E239G probably damaging Het
Olfm4 T C 14: 80,006,321 S110P probably damaging Het
Olfr589 T C 7: 103,155,565 M61V probably benign Het
Parn T A 16: 13,566,703 I499F probably damaging Het
Ppargc1a G A 5: 51,495,726 Q165* probably null Het
Ppp1r12b T A 1: 134,886,506 E353V probably damaging Het
Prkdc A G 16: 15,785,978 Q2952R possibly damaging Het
Prkdc G T 16: 15,785,979 Q2952H probably benign Het
Qars G T 9: 108,514,986 E143* probably null Het
Reln A G 5: 21,929,134 Y2599H probably damaging Het
Rnf123 T C 9: 108,061,842 E803G probably damaging Het
Rnf141 G A 7: 110,837,198 Q8* probably null Het
Rnf167 A G 11: 70,650,126 I193V probably benign Het
Rprd2 A T 3: 95,787,310 M137K probably benign Het
Rtf1 T G 2: 119,728,745 probably benign Het
Serpina1d T A 12: 103,764,796 R308* probably null Het
Smg7 T C 1: 152,843,279 Y899C probably benign Het
Tbr1 C A 2: 61,804,992 H95Q possibly damaging Het
Tcf19 A T 17: 35,514,483 probably null Het
Timm44 T A 8: 4,267,692 R210W probably damaging Het
Trnau1ap C A 4: 132,314,020 E194* probably null Het
Trp63 G A 16: 25,820,442 G127S probably damaging Het
Trrap C T 5: 144,798,390 A989V probably benign Het
Ttn T C 2: 76,769,982 D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,179,952 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn1r80 A G 7: 12,193,254 Y97C probably benign Het
Vmn2r77 G A 7: 86,802,016 C370Y probably damaging Het
Xntrpc C A 7: 102,084,285 A147D probably damaging Het
Zc3h4 C T 7: 16,425,777 S424F unknown Het
Zcwpw1 T A 5: 137,810,114 S275T probably damaging Het
Zfp979 C T 4: 147,615,351 C44Y probably damaging Het
Zscan20 T C 4: 128,585,794 H968R probably damaging Het
Zswim3 T C 2: 164,820,377 V259A probably damaging Het
Other mutations in Zzz3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Zzz3 APN 3 152428514 missense probably benign 0.16
IGL00707:Zzz3 APN 3 152449043 nonsense probably null
IGL00983:Zzz3 APN 3 152455810 splice site probably benign
IGL01586:Zzz3 APN 3 152455839 missense possibly damaging 0.80
IGL01973:Zzz3 APN 3 152428370 missense probably benign 0.00
IGL02002:Zzz3 APN 3 152451369 missense probably damaging 0.98
IGL02009:Zzz3 APN 3 152428115 missense possibly damaging 0.80
IGL02260:Zzz3 APN 3 152452083 missense probably benign 0.04
IGL02454:Zzz3 APN 3 152428574 missense probably benign 0.03
IGL02519:Zzz3 APN 3 152427390 missense probably damaging 1.00
R0067:Zzz3 UTSW 3 152428403 missense possibly damaging 0.88
R0067:Zzz3 UTSW 3 152428403 missense possibly damaging 0.88
R0314:Zzz3 UTSW 3 152427448 missense probably benign 0.00
R0536:Zzz3 UTSW 3 152448828 missense probably damaging 1.00
R1706:Zzz3 UTSW 3 152449098 missense probably damaging 1.00
R2869:Zzz3 UTSW 3 152446844 synonymous silent
R2870:Zzz3 UTSW 3 152446844 synonymous silent
R2871:Zzz3 UTSW 3 152446844 synonymous silent
R2872:Zzz3 UTSW 3 152446844 synonymous silent
R3927:Zzz3 UTSW 3 152455862 missense probably damaging 1.00
R4195:Zzz3 UTSW 3 152428465 missense probably benign 0.02
R4768:Zzz3 UTSW 3 152448783 missense probably damaging 1.00
R5248:Zzz3 UTSW 3 152427545 missense probably damaging 0.99
R5566:Zzz3 UTSW 3 152455824 missense probably damaging 1.00
R5752:Zzz3 UTSW 3 152452122 missense possibly damaging 0.48
R5782:Zzz3 UTSW 3 152428100 missense possibly damaging 0.69
R5884:Zzz3 UTSW 3 152450658 missense probably damaging 1.00
R6008:Zzz3 UTSW 3 152428151 missense probably benign 0.01
R6155:Zzz3 UTSW 3 152427682 missense possibly damaging 0.57
R6557:Zzz3 UTSW 3 152428460 missense probably damaging 1.00
R6865:Zzz3 UTSW 3 152428053 missense probably benign 0.01
R7344:Zzz3 UTSW 3 152452099 missense probably damaging 0.98
R7588:Zzz3 UTSW 3 152422768 missense possibly damaging 0.85
R7636:Zzz3 UTSW 3 152427652 missense probably benign
R7732:Zzz3 UTSW 3 152448842 missense probably damaging 1.00
R8157:Zzz3 UTSW 3 152449648 missense probably null 0.71
R8490:Zzz3 UTSW 3 152428653 nonsense probably null
R8926:Zzz3 UTSW 3 152427892 missense possibly damaging 0.76
R9143:Zzz3 UTSW 3 152458271 missense probably benign 0.04
R9243:Zzz3 UTSW 3 152428283 missense probably damaging 1.00
X0018:Zzz3 UTSW 3 152428733 missense possibly damaging 0.88
Z1176:Zzz3 UTSW 3 152449097 missense possibly damaging 0.94
Posted On 2015-04-16