Incidental Mutation 'R0049:Maz'
ID16029
Institutional Source Beutler Lab
Gene Symbol Maz
Ensembl Gene ENSMUSG00000030678
Gene NameMYC-associated zinc finger protein (purine-binding transcription factor)
SynonymsSAF-2, Pur-1, PUR1, SAF-1
MMRRC Submission 038343-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.472) question?
Stock #R0049 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location127022130-127027037 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127024586 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 74 (D74E)
Ref Sequence ENSEMBL: ENSMUSP00000145984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000032916] [ENSMUST00000159916] [ENSMUST00000161931] [ENSMUST00000202045] [ENSMUST00000202624] [ENSMUST00000205461] [ENSMUST00000205568] [ENSMUST00000206254] [ENSMUST00000206291]
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000032916
AA Change: D379E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032916
Gene: ENSMUSG00000030678
AA Change: D379E

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: ENSMUST00000161931
SMART Domains Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201606
Predicted Effect probably benign
Transcript: ENSMUST00000201686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201963
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: ENSMUST00000202936
Predicted Effect probably damaging
Transcript: ENSMUST00000205461
AA Change: D74E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000205568
AA Change: D379E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000205754
Predicted Effect possibly damaging
Transcript: ENSMUST00000206254
AA Change: D356E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000206291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206953
Meta Mutation Damage Score 0.2695 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.7%
  • 10x: 82.4%
  • 20x: 74.6%
Validation Efficiency 89% (108/122)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,638,308 H9L possibly damaging Het
Aars T A 8: 111,052,451 I739K possibly damaging Het
Acod1 T A 14: 103,055,207 I389K possibly damaging Het
Akap1 C A 11: 88,839,624 probably null Het
Anxa7 T C 14: 20,462,610 D285G probably damaging Het
Arhgap1 T C 2: 91,670,169 Y308H probably damaging Het
Arhgef11 T A 3: 87,729,193 probably null Het
Atp6v0a4 G A 6: 38,082,081 R256C probably damaging Het
Camsap3 C A 8: 3,598,772 S163R probably benign Het
Ccdc110 A T 8: 45,942,626 E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 probably null Het
Ccnt1 T C 15: 98,565,079 M71V probably benign Het
Celsr2 T A 3: 108,397,254 Y2263F probably benign Het
Cfap69 T C 5: 5,613,734 T498A probably benign Het
Clstn3 T A 6: 124,459,853 I132F possibly damaging Het
Cnot4 A G 6: 35,051,277 V468A probably benign Het
Crmp1 T G 5: 37,265,273 D141E possibly damaging Het
Cryz C A 3: 154,611,552 A136D probably damaging Het
Dcst2 T C 3: 89,371,606 V550A probably benign Het
Dph6 A G 2: 114,523,044 V221A probably benign Het
Ecm2 A T 13: 49,524,446 K403* probably null Het
Eif3d T C 15: 77,959,724 N474S probably benign Het
F12 T C 13: 55,426,317 D34G probably benign Het
Fam214b A T 4: 43,036,441 S97T probably benign Het
Fam228b A T 12: 4,748,117 F200Y probably damaging Het
Fgl2 T A 5: 21,375,663 D334E possibly damaging Het
Fras1 T A 5: 96,776,622 F3641I probably benign Het
Gabrb2 T G 11: 42,593,847 Y244D probably damaging Het
Gcc1 A T 6: 28,421,269 D16E probably benign Het
Gm10648 T C 7: 28,861,777 probably benign Het
Gm6614 T C 6: 141,990,421 T313A probably benign Het
Gorasp2 T C 2: 70,690,723 S346P possibly damaging Het
Htt A C 5: 34,908,662 K3060N probably damaging Het
Ibsp C T 5: 104,302,158 L8F probably damaging Het
Kif27 A T 13: 58,303,564 D983E probably damaging Het
Kif3a T A 11: 53,590,733 probably benign Het
Kif3c A C 12: 3,367,090 K370N possibly damaging Het
Loxhd1 T C 18: 77,380,560 probably benign Het
Med21 T C 6: 146,650,234 S128P probably damaging Het
Mms19 A C 19: 41,955,168 M374R probably damaging Het
Mrpl3 T C 9: 105,055,673 V111A probably benign Het
Mtfr2 T A 10: 20,348,412 Y31N probably damaging Het
Neb A C 2: 52,170,467 M2286R possibly damaging Het
Ngf A T 3: 102,520,345 R137* probably null Het
Nr1i3 T A 1: 171,214,413 V22E probably damaging Het
Nxpe5 T C 5: 138,251,304 V452A probably damaging Het
Olfr743 A T 14: 50,533,694 K94M probably damaging Het
Pax3 A G 1: 78,103,504 L415P probably damaging Het
Pcnt G T 10: 76,369,821 probably benign Het
Peg3 G T 7: 6,711,673 D183E possibly damaging Het
Pglyrp1 G T 7: 18,889,388 G120V probably damaging Het
Pomt1 T A 2: 32,252,011 H584Q possibly damaging Het
Prkcq G A 2: 11,283,832 G532E probably benign Het
Pwp1 A G 10: 85,885,616 T361A possibly damaging Het
Rab4a A T 8: 123,827,342 H5L probably damaging Het
Ramp1 T C 1: 91,196,870 I51T possibly damaging Het
Raph1 G T 1: 60,525,899 T143K probably benign Het
Rhpn1 A G 15: 75,709,239 E110G possibly damaging Het
Rnf168 A T 16: 32,298,469 T283S possibly damaging Het
Ros1 T A 10: 52,101,761 Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,921,434 Q223R probably null Het
Rtp4 G T 16: 23,612,929 M70I probably benign Het
Sag C A 1: 87,834,618 T335K probably damaging Het
Sgo1 C T 17: 53,679,663 D167N probably damaging Het
St6gal1 G T 16: 23,321,141 A21S probably damaging Het
Stard9 C A 2: 120,699,819 L2186I probably damaging Het
Sun2 T A 15: 79,727,609 probably benign Het
Taf4 G A 2: 179,924,091 T849M probably damaging Het
Taok2 G A 7: 126,866,411 H404Y possibly damaging Het
Tdrd7 A G 4: 45,987,582 I72V probably damaging Het
Trav1 T A 14: 52,428,698 S52T probably damaging Het
Trim30a C T 7: 104,429,352 probably null Het
Tro T C X: 150,654,569 N364S possibly damaging Het
Tshz3 A G 7: 36,770,109 T508A probably damaging Het
Ttc21b A G 2: 66,223,564 L757P probably damaging Het
Vmn1r218 C T 13: 23,137,055 Q111* probably null Het
Vmn2r75 G A 7: 86,148,101 Q835* probably null Het
Xcr1 T A 9: 123,855,875 D274V possibly damaging Het
Ypel5 C T 17: 72,846,337 T12I probably benign Het
Other mutations in Maz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Maz APN 7 127024442 critical splice donor site probably null
R0049:Maz UTSW 7 127024586 missense probably damaging 1.00
R1381:Maz UTSW 7 127023152 nonsense probably null
R2114:Maz UTSW 7 127025505 missense probably damaging 1.00
R4628:Maz UTSW 7 127025347 missense possibly damaging 0.92
R4629:Maz UTSW 7 127025347 missense possibly damaging 0.92
R4895:Maz UTSW 7 127025300 unclassified probably null
R5479:Maz UTSW 7 127025688 missense possibly damaging 0.79
R5668:Maz UTSW 7 127025322 missense probably damaging 1.00
R7008:Maz UTSW 7 127024612 missense probably damaging 1.00
R7324:Maz UTSW 7 127024593 missense probably damaging 1.00
R7325:Maz UTSW 7 127025553 missense probably benign 0.35
R7432:Maz UTSW 7 127023048 missense probably benign 0.33
R7456:Maz UTSW 7 127026317 nonsense probably null
RF003:Maz UTSW 7 127025497 missense probably damaging 1.00
X0035:Maz UTSW 7 127025883 unclassified probably benign
Z1088:Maz UTSW 7 127024474 frame shift probably null
Posted On2013-01-08