Incidental Mutation 'IGL02496:Zfp532'
ID 295812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # IGL02496
Quality Score
Status
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65757113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 349 (S349P)
Ref Sequence ENSEMBL: ENSMUSP00000138315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000182979] [ENSMUST00000183319] [ENSMUST00000183236] [ENSMUST00000183326]
AlphaFold Q6NXK2
Predicted Effect probably damaging
Transcript: ENSMUST00000049016
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: S349P

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 damaging
Transcript: ENSMUST00000169679
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: S349P

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 damaging
Transcript: ENSMUST00000182478
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: S349P

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 benign
Transcript: ENSMUST00000182684
Predicted Effect probably damaging
Transcript: ENSMUST00000182852
AA Change: S349P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: S349P

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: S349P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: S349P

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: ENSMUST00000183184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183157
Predicted Effect probably benign
Transcript: ENSMUST00000183319
Predicted Effect probably benign
Transcript: ENSMUST00000183236
Predicted Effect probably benign
Transcript: ENSMUST00000183326
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging 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
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
R2847:Zfp532 UTSW 18 65,789,697 (GRCm39) missense possibly damaging 0.79
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
Posted On 2015-04-16