Incidental Mutation 'R4895:Maz'
ID 377571
Institutional Source Beutler Lab
Gene Symbol Maz
Ensembl Gene ENSMUSG00000030678
Gene Name MYC-associated zinc finger protein (purine-binding transcription factor)
Synonyms PUR1, Pur-1, SAF-1, SAF-2
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R4895 (G1)
Quality Score 194
Status Validated
Chromosome 7
Chromosomal Location 126621306-126626177 bp(-) (GRCm39)
Type of Mutation splice site (587 bp from exon)
DNA Base Change (assembly) A to T at 126624472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000032916] [ENSMUST00000032916] [ENSMUST00000159916] [ENSMUST00000206254] [ENSMUST00000206254] [ENSMUST00000205568] [ENSMUST00000205568] [ENSMUST00000206291] [ENSMUST00000205461] [ENSMUST00000202045] [ENSMUST00000202624]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000032915
SMART Domains Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677

DomainStartEndE-ValueType
KISc 36 371 1.12e-140 SMART
low complexity region 399 428 N/A INTRINSIC
coiled coil region 460 496 N/A INTRINSIC
HhH1 597 616 2.16e0 SMART
HhH1 627 646 8.65e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032916
SMART Domains Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678

DomainStartEndE-ValueType
low complexity region 59 82 N/A INTRINSIC
low complexity region 90 126 N/A INTRINSIC
low complexity region 130 179 N/A INTRINSIC
ZnF_C2H2 190 212 4.11e-2 SMART
low complexity region 231 272 N/A INTRINSIC
ZnF_C2H2 279 301 6.78e-3 SMART
ZnF_C2H2 307 329 4.87e-4 SMART
ZnF_C2H2 337 360 1.22e-4 SMART
ZnF_C2H2 366 388 1.79e-2 SMART
ZnF_C2H2 392 413 6.57e0 SMART
low complexity region 435 451 N/A INTRINSIC
low complexity region 465 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032916
SMART Domains Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678

DomainStartEndE-ValueType
low complexity region 59 82 N/A INTRINSIC
low complexity region 90 126 N/A INTRINSIC
low complexity region 130 179 N/A INTRINSIC
ZnF_C2H2 190 212 4.11e-2 SMART
low complexity region 231 272 N/A INTRINSIC
ZnF_C2H2 279 301 6.78e-3 SMART
ZnF_C2H2 307 329 4.87e-4 SMART
ZnF_C2H2 337 360 1.22e-4 SMART
ZnF_C2H2 366 388 1.79e-2 SMART
ZnF_C2H2 392 413 6.57e0 SMART
low complexity region 435 451 N/A INTRINSIC
low complexity region 465 476 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032918
SMART Domains Protein: ENSMUSP00000032918
Gene: ENSMUSG00000030680

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 217 7.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159916
SMART Domains Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
low complexity region 91 112 N/A INTRINSIC
low complexity region 146 169 N/A INTRINSIC
Pfam:CD225 263 337 3.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161728
Predicted Effect probably benign
Transcript: ENSMUST00000206254
Predicted Effect probably benign
Transcript: ENSMUST00000206254
Predicted Effect probably benign
Transcript: ENSMUST00000205568
Predicted Effect probably benign
Transcript: ENSMUST00000205568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202936
Predicted Effect probably null
Transcript: ENSMUST00000206291
Predicted Effect probably benign
Transcript: ENSMUST00000205461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206924
Predicted Effect probably null
Transcript: ENSMUST00000205754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206655
Predicted Effect probably benign
Transcript: ENSMUST00000202045
SMART Domains Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
Pfam:CD225 1 52 3.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202624
SMART Domains Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 176 5.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206953
Meta Mutation Damage Score 0.9585 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Maz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Maz APN 7 126,623,614 (GRCm39) critical splice donor site probably null
R0049:Maz UTSW 7 126,623,758 (GRCm39) missense probably damaging 1.00
R0049:Maz UTSW 7 126,623,758 (GRCm39) missense probably damaging 1.00
R1381:Maz UTSW 7 126,622,324 (GRCm39) nonsense probably null
R2114:Maz UTSW 7 126,624,677 (GRCm39) missense probably damaging 1.00
R4628:Maz UTSW 7 126,624,519 (GRCm39) missense possibly damaging 0.92
R4629:Maz UTSW 7 126,624,519 (GRCm39) missense possibly damaging 0.92
R5479:Maz UTSW 7 126,624,860 (GRCm39) missense possibly damaging 0.79
R5668:Maz UTSW 7 126,624,494 (GRCm39) missense probably damaging 1.00
R7008:Maz UTSW 7 126,623,784 (GRCm39) missense probably damaging 1.00
R7324:Maz UTSW 7 126,623,765 (GRCm39) missense probably damaging 1.00
R7325:Maz UTSW 7 126,624,725 (GRCm39) missense probably benign 0.35
R7432:Maz UTSW 7 126,622,220 (GRCm39) missense probably benign 0.33
R7456:Maz UTSW 7 126,625,489 (GRCm39) nonsense probably null
R8285:Maz UTSW 7 126,624,644 (GRCm39) missense possibly damaging 0.84
R9298:Maz UTSW 7 126,625,075 (GRCm39) small deletion probably benign
R9383:Maz UTSW 7 126,624,083 (GRCm39) nonsense probably null
R9492:Maz UTSW 7 126,622,292 (GRCm39) missense possibly damaging 0.92
R9549:Maz UTSW 7 126,625,578 (GRCm39) missense unknown
R9593:Maz UTSW 7 126,624,924 (GRCm39) missense probably damaging 1.00
RF003:Maz UTSW 7 126,624,669 (GRCm39) missense probably damaging 1.00
X0035:Maz UTSW 7 126,625,055 (GRCm39) unclassified probably benign
Z1088:Maz UTSW 7 126,623,646 (GRCm39) frame shift probably null
Z1177:Maz UTSW 7 126,625,068 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAGGCTGCTTTCCTTCAG -3'
(R):5'- AAGAATCACGCCTGCGAGATG -3'

Sequencing Primer
(F):5'- GCTTTCCTTCAGCCCAGAGAC -3'
(R):5'- CTGCGAGATGTGCGGCAAG -3'
Posted On 2016-03-17