Incidental Mutation 'R4938:Zfp532'
ID 382874
Institutional Source Beutler Lab
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65756837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 257 (S257P)
Ref Sequence ENSEMBL: ENSMUSP00000138225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182852] [ENSMUST00000182979] [ENSMUST00000183319] [ENSMUST00000183236] [ENSMUST00000182684] [ENSMUST00000183326] [ENSMUST00000182973]
AlphaFold Q6NXK2
Predicted Effect probably benign
Transcript: ENSMUST00000049016
AA Change: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: S257P

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: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: S257P

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: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: S257P

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: ENSMUST00000182852
AA Change: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: S257P

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: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: S257P

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: ENSMUST00000182684
Predicted Effect probably benign
Transcript: ENSMUST00000183326
Predicted Effect probably benign
Transcript: ENSMUST00000182973
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably 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
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
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
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'- GAGTCTCTACATCAGGCCACAC -3'
(R):5'- TCGATGAGATTCTGGGACTCG -3'

Sequencing Primer
(F):5'- GGCCACACGGATAAAAACAAGGTC -3'
(R):5'- ATTCTGGGACTCGGGAGAC -3'
Posted On 2016-04-27