Incidental Mutation 'R2847:Zfp532'
ID 476738
Institutional Source Beutler Lab
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
MMRRC Submission 040440-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R2847 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65789697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1045 (H1045Q)
Ref Sequence ENSEMBL: ENSMUSP00000138663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182478] [ENSMUST00000182852]
AlphaFold Q6NXK2
Predicted Effect probably benign
Transcript: ENSMUST00000049016
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439

DomainStartEndE-ValueType
low complexity region 253 287 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
low complexity region 395 417 N/A INTRINSIC
low complexity region 480 502 N/A INTRINSIC
low complexity region 547 559 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
ZnF_C2H2 615 635 7.18e1 SMART
ZnF_C2H2 643 667 1.23e1 SMART
low complexity region 726 738 N/A INTRINSIC
ZnF_C2H2 751 772 4.57e0 SMART
ZnF_C2H2 784 807 1.25e-1 SMART
ZnF_C2H2 814 840 1.43e-1 SMART
low complexity region 860 872 N/A INTRINSIC
ZnF_C2H2 909 931 1.31e0 SMART
ZnF_C2H2 938 961 9.44e-2 SMART
ZnF_C2H2 999 1021 6.88e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169679
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439

DomainStartEndE-ValueType
low complexity region 253 287 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
low complexity region 395 417 N/A INTRINSIC
low complexity region 480 502 N/A INTRINSIC
low complexity region 547 559 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
ZnF_C2H2 615 635 7.18e1 SMART
ZnF_C2H2 643 667 1.23e1 SMART
low complexity region 726 738 N/A INTRINSIC
ZnF_C2H2 751 772 4.57e0 SMART
ZnF_C2H2 784 807 1.25e-1 SMART
ZnF_C2H2 814 840 1.43e-1 SMART
low complexity region 860 872 N/A INTRINSIC
ZnF_C2H2 909 931 1.31e0 SMART
ZnF_C2H2 938 961 9.44e-2 SMART
ZnF_C2H2 999 1021 6.88e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182478
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439

DomainStartEndE-ValueType
low complexity region 253 287 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
low complexity region 395 417 N/A INTRINSIC
low complexity region 480 502 N/A INTRINSIC
low complexity region 547 559 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
ZnF_C2H2 615 635 7.18e1 SMART
ZnF_C2H2 643 667 1.23e1 SMART
low complexity region 726 738 N/A INTRINSIC
ZnF_C2H2 751 772 4.57e0 SMART
ZnF_C2H2 780 802 4.34e0 SMART
ZnF_C2H2 808 832 1.55e1 SMART
ZnF_C2H2 839 862 8.94e-3 SMART
ZnF_C2H2 867 890 3.78e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182852
AA Change: H1045Q

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: H1045Q

DomainStartEndE-ValueType
low complexity region 253 287 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
low complexity region 395 417 N/A INTRINSIC
low complexity region 480 502 N/A INTRINSIC
low complexity region 547 559 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
ZnF_C2H2 615 635 7.18e1 SMART
ZnF_C2H2 643 667 1.23e1 SMART
low complexity region 726 738 N/A INTRINSIC
ZnF_C2H2 751 772 4.57e0 SMART
ZnF_C2H2 780 802 4.34e0 SMART
ZnF_C2H2 808 832 1.55e1 SMART
ZnF_C2H2 839 862 8.94e-3 SMART
ZnF_C2H2 867 890 3.78e-1 SMART
ZnF_C2H2 902 924 7.15e-2 SMART
ZnF_C2H2 933 956 1.43e-1 SMART
ZnF_C2H2 1022 1045 4.72e-2 SMART
ZnF_C2H2 1052 1075 1.25e-1 SMART
ZnF_C2H2 1082 1108 1.43e-1 SMART
low complexity region 1128 1140 N/A INTRINSIC
ZnF_C2H2 1177 1199 1.31e0 SMART
ZnF_C2H2 1206 1229 9.44e-2 SMART
ZnF_C2H2 1267 1289 6.88e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183303
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik T C 9: 53,176,089 (GRCm39) noncoding transcript Het
Abca13 T C 11: 9,244,584 (GRCm39) V2149A possibly damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Bub3 C T 7: 131,172,613 (GRCm39) T326M possibly damaging Het
Cd151 T C 7: 141,049,463 (GRCm39) Y57H probably damaging Het
Cib4 T C 5: 30,645,932 (GRCm39) N112S probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Defb39 C T 8: 19,102,909 (GRCm39) R62H possibly damaging Het
Dennd2b T C 7: 109,124,544 (GRCm39) Q1099R probably damaging Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Efcab12 A G 6: 115,788,072 (GRCm39) I630T probably damaging Het
Erc2 T C 14: 27,762,445 (GRCm39) V736A probably damaging Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fndc9 C T 11: 46,128,868 (GRCm39) A129V probably damaging Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Gba2 T C 4: 43,568,000 (GRCm39) probably null Het
Gna12 T A 5: 140,771,348 (GRCm39) D61V probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Grin2b C A 6: 135,717,951 (GRCm39) V714L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Itgb6 T C 2: 60,430,879 (GRCm39) T772A probably damaging Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Mme T A 3: 63,252,620 (GRCm39) N421K possibly damaging Het
Mmp1b C T 9: 7,370,763 (GRCm39) V331I probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nav1 G C 1: 135,378,382 (GRCm39) probably null Het
Nln A G 13: 104,161,533 (GRCm39) M679T probably damaging Het
Or1n1b A G 2: 36,780,536 (GRCm39) L108P probably damaging Het
Or8b53 C T 9: 38,667,332 (GRCm39) T116I possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pax7 T C 4: 139,506,954 (GRCm39) D361G possibly damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Plekhh2 G T 17: 84,905,394 (GRCm39) R1096L probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Robo4 C T 9: 37,315,772 (GRCm39) R342* probably null Het
Sec23ip G A 7: 128,355,797 (GRCm39) V307I probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Tas1r3 T A 4: 155,944,659 (GRCm39) Q854L probably benign Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trpm4 A G 7: 44,960,022 (GRCm39) F771S probably damaging Het
Tstd3 A T 4: 21,759,375 (GRCm39) F132L possibly damaging Het
Ulk2 T C 11: 61,715,555 (GRCm39) probably null Het
Unc13b T C 4: 43,180,404 (GRCm39) Y3080H probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vmn2r60 A T 7: 41,785,857 (GRCm39) H220L probably benign Het
Vps13a A G 19: 16,680,963 (GRCm39) S1078P probably damaging Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zdhhc22 T A 12: 87,035,336 (GRCm39) T39S probably benign Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* probably null Het
Other mutations in Zfp532
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Zfp532 APN 18 65,757,849 (GRCm39) missense probably damaging 1.00
IGL02451:Zfp532 APN 18 65,756,672 (GRCm39) missense probably damaging 0.96
IGL02496:Zfp532 APN 18 65,757,113 (GRCm39) missense probably damaging 1.00
PIT4151001:Zfp532 UTSW 18 65,757,485 (GRCm39) missense probably damaging 1.00
R0048:Zfp532 UTSW 18 65,777,404 (GRCm39) missense probably damaging 1.00
R0076:Zfp532 UTSW 18 65,818,698 (GRCm39) missense probably benign 0.07
R0095:Zfp532 UTSW 18 65,757,855 (GRCm39) missense probably damaging 1.00
R0239:Zfp532 UTSW 18 65,816,056 (GRCm39) missense possibly damaging 0.63
R0239:Zfp532 UTSW 18 65,816,056 (GRCm39) missense possibly damaging 0.63
R0539:Zfp532 UTSW 18 65,756,837 (GRCm39) missense probably benign 0.04
R0948:Zfp532 UTSW 18 65,756,889 (GRCm39) missense probably damaging 1.00
R1447:Zfp532 UTSW 18 65,758,061 (GRCm39) missense probably damaging 1.00
R1645:Zfp532 UTSW 18 65,820,335 (GRCm39) missense probably benign 0.26
R1749:Zfp532 UTSW 18 65,756,555 (GRCm39) missense possibly damaging 0.83
R1797:Zfp532 UTSW 18 65,758,215 (GRCm39) missense probably benign 0.04
R1934:Zfp532 UTSW 18 65,818,682 (GRCm39) missense probably damaging 0.97
R1959:Zfp532 UTSW 18 65,757,563 (GRCm39) missense probably damaging 0.99
R2153:Zfp532 UTSW 18 65,757,998 (GRCm39) missense possibly damaging 0.93
R2280:Zfp532 UTSW 18 65,757,783 (GRCm39) missense probably damaging 0.96
R2281:Zfp532 UTSW 18 65,757,783 (GRCm39) missense probably damaging 0.96
R2848:Zfp532 UTSW 18 65,789,697 (GRCm39) missense possibly damaging 0.79
R4483:Zfp532 UTSW 18 65,789,636 (GRCm39) missense probably benign 0.02
R4938:Zfp532 UTSW 18 65,756,837 (GRCm39) missense probably benign
R4947:Zfp532 UTSW 18 65,758,137 (GRCm39) missense possibly damaging 0.46
R5714:Zfp532 UTSW 18 65,756,606 (GRCm39) missense possibly damaging 0.93
R5920:Zfp532 UTSW 18 65,777,421 (GRCm39) missense probably benign
R6035:Zfp532 UTSW 18 65,757,005 (GRCm39) missense possibly damaging 0.95
R6035:Zfp532 UTSW 18 65,757,005 (GRCm39) missense possibly damaging 0.95
R6092:Zfp532 UTSW 18 65,777,281 (GRCm39) missense probably damaging 1.00
R6170:Zfp532 UTSW 18 65,757,509 (GRCm39) missense probably damaging 0.97
R6180:Zfp532 UTSW 18 65,789,542 (GRCm39) missense probably benign
R6889:Zfp532 UTSW 18 65,820,061 (GRCm39) missense possibly damaging 0.66
R7039:Zfp532 UTSW 18 65,771,834 (GRCm39) missense probably benign 0.44
R7095:Zfp532 UTSW 18 65,815,969 (GRCm39) missense probably benign
R7313:Zfp532 UTSW 18 65,756,076 (GRCm39) missense probably damaging 1.00
R7400:Zfp532 UTSW 18 65,771,984 (GRCm39) missense possibly damaging 0.52
R7882:Zfp532 UTSW 18 65,756,561 (GRCm39) missense probably benign
R8026:Zfp532 UTSW 18 65,758,227 (GRCm39) missense possibly damaging 0.66
R8444:Zfp532 UTSW 18 65,757,330 (GRCm39) missense possibly damaging 0.85
R8477:Zfp532 UTSW 18 65,757,137 (GRCm39) missense probably damaging 1.00
R8544:Zfp532 UTSW 18 65,758,227 (GRCm39) missense possibly damaging 0.84
R8890:Zfp532 UTSW 18 65,757,404 (GRCm39) missense probably damaging 1.00
R8920:Zfp532 UTSW 18 65,820,390 (GRCm39) missense probably benign 0.17
R9334:Zfp532 UTSW 18 65,756,128 (GRCm39) missense probably damaging 1.00
R9421:Zfp532 UTSW 18 65,757,308 (GRCm39) missense probably benign 0.04
R9439:Zfp532 UTSW 18 65,818,714 (GRCm39) missense probably benign 0.00
R9472:Zfp532 UTSW 18 65,756,624 (GRCm39) nonsense probably null
R9477:Zfp532 UTSW 18 65,777,428 (GRCm39) missense probably benign 0.01
R9616:Zfp532 UTSW 18 65,789,639 (GRCm39) missense probably benign 0.35
R9653:Zfp532 UTSW 18 65,756,308 (GRCm39) missense possibly damaging 0.83
R9739:Zfp532 UTSW 18 65,757,894 (GRCm39) missense probably benign 0.30
Predicted Primers
Posted On 2017-05-15