Incidental Mutation 'IGL02451:Zfp532'
ID293664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Namezinc finger protein 532
SynonymsC530030I18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.367) question?
Stock #IGL02451
Quality Score
Status
Chromosome18
Chromosomal Location65580230-65689443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65623601 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 202 (R202G)
Ref Sequence ENSEMBL: ENSMUSP00000138604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000182979] [ENSMUST00000183236] [ENSMUST00000183326] [ENSMUST00000183319]
Predicted Effect probably benign
Transcript: ENSMUST00000049016
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: R202G

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
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: R202G

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: ENSMUST00000182140
Predicted Effect probably benign
Transcript: ENSMUST00000182319
Predicted Effect probably benign
Transcript: ENSMUST00000182478
AA Change: R202G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: R202G

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 probably benign
Transcript: ENSMUST00000182655
Predicted Effect probably damaging
Transcript: ENSMUST00000182684
AA Change: R202G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000182852
AA Change: R202G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: R202G

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 probably benign
Transcript: ENSMUST00000182973
Predicted Effect possibly damaging
Transcript: ENSMUST00000182979
AA Change: R202G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: R202G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183184
Predicted Effect probably benign
Transcript: ENSMUST00000183236
Predicted Effect probably benign
Transcript: ENSMUST00000183326
Predicted Effect probably benign
Transcript: ENSMUST00000183319
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Zfp532
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Zfp532 APN 18 65624778 missense probably damaging 1.00
IGL02496:Zfp532 APN 18 65624042 missense probably damaging 1.00
PIT4151001:Zfp532 UTSW 18 65624414 missense probably damaging 1.00
R0048:Zfp532 UTSW 18 65644333 missense probably damaging 1.00
R0076:Zfp532 UTSW 18 65685627 missense probably benign 0.07
R0095:Zfp532 UTSW 18 65624784 missense probably damaging 1.00
R0239:Zfp532 UTSW 18 65682985 missense possibly damaging 0.63
R0239:Zfp532 UTSW 18 65682985 missense possibly damaging 0.63
R0539:Zfp532 UTSW 18 65623766 missense probably benign 0.04
R0948:Zfp532 UTSW 18 65623818 missense probably damaging 1.00
R1447:Zfp532 UTSW 18 65624990 missense probably damaging 1.00
R1645:Zfp532 UTSW 18 65687264 missense probably benign 0.26
R1749:Zfp532 UTSW 18 65623484 missense possibly damaging 0.83
R1797:Zfp532 UTSW 18 65625144 missense probably benign 0.04
R1934:Zfp532 UTSW 18 65685611 missense probably damaging 0.97
R1959:Zfp532 UTSW 18 65624492 missense probably damaging 0.99
R2153:Zfp532 UTSW 18 65624927 missense possibly damaging 0.93
R2280:Zfp532 UTSW 18 65624712 missense probably damaging 0.96
R2281:Zfp532 UTSW 18 65624712 missense probably damaging 0.96
R2847:Zfp532 UTSW 18 65656626 missense possibly damaging 0.79
R2848:Zfp532 UTSW 18 65656626 missense possibly damaging 0.79
R4483:Zfp532 UTSW 18 65656565 missense probably benign 0.02
R4938:Zfp532 UTSW 18 65623766 missense probably benign
R4947:Zfp532 UTSW 18 65625066 missense possibly damaging 0.46
R5714:Zfp532 UTSW 18 65623535 missense possibly damaging 0.93
R5920:Zfp532 UTSW 18 65644350 missense probably benign
R6035:Zfp532 UTSW 18 65623934 missense possibly damaging 0.95
R6035:Zfp532 UTSW 18 65623934 missense possibly damaging 0.95
R6092:Zfp532 UTSW 18 65644210 missense probably damaging 1.00
R6170:Zfp532 UTSW 18 65624438 missense probably damaging 0.97
R6180:Zfp532 UTSW 18 65656471 missense probably benign
R6889:Zfp532 UTSW 18 65686990 missense possibly damaging 0.66
R7039:Zfp532 UTSW 18 65638763 missense probably benign 0.44
R7095:Zfp532 UTSW 18 65682898 missense probably benign
R7313:Zfp532 UTSW 18 65623005 missense probably damaging 1.00
R7400:Zfp532 UTSW 18 65638913 missense possibly damaging 0.52
R7882:Zfp532 UTSW 18 65623490 missense probably benign
R8026:Zfp532 UTSW 18 65625156 missense possibly damaging 0.66
R8444:Zfp532 UTSW 18 65624259 missense possibly damaging 0.85
R8477:Zfp532 UTSW 18 65624066 missense probably damaging 1.00
R8544:Zfp532 UTSW 18 65625156 missense possibly damaging 0.84
Posted On2015-04-16