Incidental Mutation 'R2153:Zfp532'
ID 234573
Institutional Source Beutler Lab
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
MMRRC Submission 040156-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R2153 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65757998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 644 (T644A)
Ref Sequence ENSEMBL: ENSMUSP00000138315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182852] [ENSMUST00000182979] [ENSMUST00000183326] [ENSMUST00000183236] [ENSMUST00000183319] [ENSMUST00000182684] [ENSMUST00000182973]
AlphaFold Q6NXK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049016
AA Change: T644A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: T644A

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 possibly damaging
Transcript: ENSMUST00000169679
AA Change: T644A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: T644A

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 possibly damaging
Transcript: ENSMUST00000182478
AA Change: T644A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: T644A

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 possibly damaging
Transcript: ENSMUST00000182852
AA Change: T644A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: T644A

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: ENSMUST00000182979
AA Change: T644A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: T644A

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: ENSMUST00000183326
Predicted Effect probably benign
Transcript: ENSMUST00000183236
Predicted Effect probably benign
Transcript: ENSMUST00000183319
Predicted Effect probably benign
Transcript: ENSMUST00000182684
Predicted Effect probably benign
Transcript: ENSMUST00000182973
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,959 (GRCm39) E363G probably benign Het
Abcg2 T A 6: 58,661,307 (GRCm39) probably null Het
Adgrg7 T G 16: 56,572,791 (GRCm39) I342L possibly damaging Het
Akap6 A C 12: 53,188,187 (GRCm39) D1867A probably benign Het
Ankrd17 A T 5: 90,381,918 (GRCm39) V2416D probably damaging Het
Apaf1 A G 10: 90,883,952 (GRCm39) V670A probably damaging Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Atad5 T A 11: 79,997,203 (GRCm39) D842E probably benign Het
Brd10 T C 19: 29,694,229 (GRCm39) M1755V probably benign Het
Capns1 A G 7: 29,891,765 (GRCm39) L124P probably damaging Het
Carmil1 A G 13: 24,325,656 (GRCm39) S225P probably damaging Het
Cars2 C T 8: 11,580,299 (GRCm39) A247T possibly damaging Het
Cd46 A G 1: 194,744,721 (GRCm39) I339T probably benign Het
Ceacam14 C A 7: 17,548,153 (GRCm39) T81N probably benign Het
Ceacam16 G A 7: 19,595,066 (GRCm39) P4L probably benign Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cntnap5c A T 17: 58,362,666 (GRCm39) I340L possibly damaging Het
Col2a1 C A 15: 97,885,461 (GRCm39) A461S unknown Het
Comtd1 T C 14: 21,898,340 (GRCm39) E27G possibly damaging Het
Cyp2a12 A G 7: 26,732,042 (GRCm39) N261S probably benign Het
Dclk1 A G 3: 55,154,633 (GRCm39) Y21C probably damaging Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dlg5 A T 14: 24,187,225 (GRCm39) I1819N probably damaging Het
Elp1 T A 4: 56,779,636 (GRCm39) probably null Het
Enpep T C 3: 129,074,231 (GRCm39) N772S probably damaging Het
Erich1 T C 8: 14,128,773 (GRCm39) T56A probably benign Het
Ermp1 T C 19: 29,614,798 (GRCm39) probably null Het
Etl4 A G 2: 20,803,545 (GRCm39) E807G probably benign Het
Fat4 A T 3: 39,037,544 (GRCm39) Y3732F probably damaging Het
Fbxw18 T G 9: 109,522,438 (GRCm39) T144P probably damaging Het
Flywch1 A T 17: 23,974,624 (GRCm39) I672K probably benign Het
Foxk2 C A 11: 121,151,213 (GRCm39) A86E probably benign Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gda A G 19: 21,374,869 (GRCm39) probably null Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Golga3 A G 5: 110,335,856 (GRCm39) probably null Het
Greb1 T C 12: 16,749,533 (GRCm39) S1098G probably damaging Het
Hook3 C A 8: 26,560,225 (GRCm39) L333F probably damaging Het
Il6 C T 5: 30,218,502 (GRCm39) Q33* probably null Het
Iqgap1 T C 7: 80,401,701 (GRCm39) E468G probably benign Het
Iqgap1 A G 7: 80,409,651 (GRCm39) I228T possibly damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kcnab1 A T 3: 65,278,861 (GRCm39) I371F probably damaging Het
Kcnj10 A T 1: 172,197,455 (GRCm39) Y323F possibly damaging Het
Klk1b5 T C 7: 43,869,322 (GRCm39) probably null Het
Lmo7 A G 14: 102,157,951 (GRCm39) probably benign Het
Loxhd1 A T 18: 77,443,862 (GRCm39) T277S possibly damaging Het
Lrp5 A T 19: 3,664,339 (GRCm39) M796K probably benign Het
Med15 A T 16: 17,503,315 (GRCm39) probably null Het
Mfn1 T A 3: 32,596,975 (GRCm39) H144Q probably damaging Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrxn2 T C 19: 6,554,944 (GRCm39) I1141T probably damaging Het
Olah T C 2: 3,366,306 (GRCm39) S9G probably benign Het
Or1m1 T C 9: 18,666,391 (GRCm39) D180G probably damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or5b120 T G 19: 13,479,852 (GRCm39) I48M probably damaging Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Or8k22 A C 2: 86,162,872 (GRCm39) F276C probably damaging Het
Otog T A 7: 45,952,328 (GRCm39) C2591S probably damaging Het
Pdgfrb G T 18: 61,205,828 (GRCm39) V605F probably damaging Het
Pik3cb T A 9: 98,983,297 (GRCm39) K104* probably null Het
Plb1 T A 5: 32,471,433 (GRCm39) I580N probably damaging Het
Plekha2 T C 8: 25,578,413 (GRCm39) Y29C probably damaging Het
Plekha7 T A 7: 115,775,002 (GRCm39) Y213F probably damaging Het
Plin5 T C 17: 56,423,836 (GRCm39) D33G probably benign Het
Pnpla2 C A 7: 141,039,132 (GRCm39) Q371K probably damaging Het
Ppm1n A G 7: 19,012,110 (GRCm39) Y348H probably damaging Het
Ppp2r1b T A 9: 50,777,854 (GRCm39) D266E probably damaging Het
Prss23 A G 7: 89,159,119 (GRCm39) S317P probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Pum1 G T 4: 130,478,802 (GRCm39) A571S probably damaging Het
Rexo1 G T 10: 80,379,943 (GRCm39) C13* probably null Het
Rhpn1 A T 15: 75,576,243 (GRCm39) M1L probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Rps6kc1 T C 1: 190,530,920 (GRCm39) Y937C probably damaging Het
Rrbp1 A G 2: 143,796,118 (GRCm39) L1200P possibly damaging Het
Ryr2 A G 13: 11,592,759 (GRCm39) I4665T possibly damaging Het
Sbno1 C A 5: 124,516,606 (GRCm39) V1256F probably benign Het
Senp5 T C 16: 31,787,692 (GRCm39) I644V probably damaging Het
Serpinb9e T A 13: 33,436,961 (GRCm39) F94I probably damaging Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Sned1 T A 1: 93,202,379 (GRCm39) D674E probably benign Het
Sorl1 T C 9: 41,895,788 (GRCm39) H1789R probably benign Het
Sp2 T C 11: 96,852,834 (GRCm39) D30G possibly damaging Het
Stk33 T A 7: 108,940,527 (GRCm39) N61I probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tnfrsf21 A G 17: 43,398,763 (GRCm39) D623G probably damaging Het
Trib2 A G 12: 15,843,830 (GRCm39) F271L probably damaging Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Yeats2 T A 16: 19,972,916 (GRCm39) D23E probably damaging Het
Zan T A 5: 137,434,662 (GRCm39) I2214F unknown Het
Zbtb40 T C 4: 136,718,946 (GRCm39) D917G probably damaging Het
Zcchc2 C A 1: 105,949,453 (GRCm39) probably null Het
Zdhhc23 G T 16: 43,794,282 (GRCm39) Q131K probably benign Het
Zfp345 T C 2: 150,314,578 (GRCm39) T320A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTTCAACAAGGTGCTGAGC -3'
(R):5'- AGGCTGGACTTTTGGGACAG -3'

Sequencing Primer
(F):5'- TGAGCAGCGTCAACCCAGTC -3'
(R):5'- ACAGTGTGTGTGGCAGCTCC -3'
Posted On 2014-10-01