Incidental Mutation 'R0314:Zzz3'
ID 25361
Institutional Source Beutler Lab
Gene Symbol Zzz3
Ensembl Gene ENSMUSG00000039068
Gene Name zinc finger, ZZ domain containing 3
Synonyms 6430567E01Rik, 3110065C23Rik
MMRRC Submission 038524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0314 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152101110-152168463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152133085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
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: S48P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: S48P

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: S48P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: S48P

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: S48P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: S48P

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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.7%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih2 T C 9: 108,485,878 (GRCm39) N345D probably damaging Het
Ascc3 C T 10: 50,514,095 (GRCm39) S298L possibly damaging Het
Cacna1e A G 1: 154,317,997 (GRCm39) Y1462H probably damaging Het
Car9 T C 4: 43,509,212 (GRCm39) probably null Het
Cenpc1 A T 5: 86,185,230 (GRCm39) M427K probably benign Het
Chl1 T A 6: 103,624,262 (GRCm39) C57S probably damaging Het
Cntn3 T C 6: 102,397,342 (GRCm39) Y77C probably damaging Het
Cobll1 T C 2: 64,919,865 (GRCm39) K1187E possibly damaging Het
Fkbpl C T 17: 34,865,026 (GRCm39) H265Y possibly damaging Het
Fmo1 T G 1: 162,687,031 (GRCm39) E32A probably damaging Het
Fnip2 G A 3: 79,388,496 (GRCm39) T715I probably damaging Het
Fzd6 T A 15: 38,889,128 (GRCm39) I82K possibly damaging Het
Grm5 T C 7: 87,252,163 (GRCm39) S138P probably damaging Het
Klra5 T C 6: 129,880,553 (GRCm39) Y115C probably damaging Het
Lgr4 T C 2: 109,821,438 (GRCm39) probably benign Het
Limd1 T G 9: 123,345,892 (GRCm39) I557S probably benign Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Neb A T 2: 52,133,343 (GRCm39) D3398E probably benign Het
Nup155 T C 15: 8,176,736 (GRCm39) S1005P probably benign Het
Or2v2 A T 11: 49,004,519 (GRCm39) D11E possibly damaging Het
Or52a5b T C 7: 103,417,388 (GRCm39) D72G probably damaging Het
Pebp4 G T 14: 70,297,103 (GRCm39) S214I possibly damaging Het
Pex26 T C 6: 121,161,443 (GRCm39) probably null Het
Rbbp8 A T 18: 11,848,875 (GRCm39) Q230L probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo2 G A 16: 73,753,525 (GRCm39) T784M probably damaging Het
Slc5a1 T C 5: 33,303,995 (GRCm39) I270T probably benign Het
Spag4 C T 2: 155,909,229 (GRCm39) probably benign Het
Stt3a T C 9: 36,660,841 (GRCm39) probably benign Het
Svep1 C T 4: 58,096,331 (GRCm39) E1430K possibly damaging Het
Timd5 G A 11: 46,419,364 (GRCm39) C60Y probably damaging Het
Uba6 A T 5: 86,265,946 (GRCm39) V956E probably damaging Het
Ube2j1 T A 4: 33,043,991 (GRCm39) probably benign Het
Ubr5 A G 15: 37,997,431 (GRCm39) S1741P probably damaging Het
Vmn2r1 A G 3: 63,993,980 (GRCm39) T109A probably damaging Het
Vmn2r60 T C 7: 41,784,985 (GRCm39) probably benign Het
Vstm2a A G 11: 16,318,388 (GRCm39) probably benign Het
Zdhhc20 T A 14: 58,094,076 (GRCm39) K195N probably damaging Het
Zfp683 A G 4: 133,786,052 (GRCm39) Y393C 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
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
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'- GCAGAGAAACAGTGAGCATGTCTTCAG -3'
(R):5'- TGTGGCTTCAGCTCTAAGACAGCG -3'

Sequencing Primer
(F):5'- catacacacggagtcccag -3'
(R):5'- CAGCTCTAAGACAGCGTTTAATG -3'
Posted On 2013-04-16