Incidental Mutation 'R1749:Zfp532'
ID 194240
Institutional Source Beutler Lab
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
MMRRC Submission 039781-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R1749 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65756555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 163 (V163M)
Ref Sequence ENSEMBL: ENSMUSP00000138783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000183236] [ENSMUST00000182979] [ENSMUST00000182852] [ENSMUST00000183326] [ENSMUST00000182973] [ENSMUST00000183319]
AlphaFold Q6NXK2
Predicted Effect probably benign
Transcript: ENSMUST00000049016
AA Change: V163M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: V163M

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: V163M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: V163M

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: ENSMUST00000182140
AA Change: V163M

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000182319
Predicted Effect probably benign
Transcript: ENSMUST00000182478
AA Change: V163M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: V163M

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: ENSMUST00000182684
AA Change: V163M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000183236
AA Change: V163M

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000182979
AA Change: V163M

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: V163M

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 probably benign
Transcript: ENSMUST00000182852
AA Change: V163M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: V163M

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: ENSMUST00000183157
Predicted Effect probably benign
Transcript: ENSMUST00000183326
Predicted Effect probably benign
Transcript: ENSMUST00000182973
Predicted Effect probably benign
Transcript: ENSMUST00000183319
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 A T 3: 152,178,557 (GRCm39) M486K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Aspn A T 13: 49,705,261 (GRCm39) D41V probably benign Het
Atp8a2 C A 14: 60,097,623 (GRCm39) E802* probably null Het
Barhl2 T C 5: 106,605,572 (GRCm39) S46G unknown Het
Cacna1e A G 1: 154,319,746 (GRCm39) V1318A probably damaging Het
Ccdc69 T C 11: 54,941,979 (GRCm39) R176G probably null Het
Cdan1 T C 2: 120,560,280 (GRCm39) N321S probably damaging Het
Cep85l T C 10: 53,154,250 (GRCm39) D681G probably damaging Het
Cntrob A T 11: 69,213,700 (GRCm39) V30E probably damaging Het
Csmd3 C T 15: 47,449,056 (GRCm39) G3646E probably damaging Het
Cx3cl1 A G 8: 95,506,789 (GRCm39) probably null Het
Dab1 A T 4: 104,185,495 (GRCm39) probably benign Het
Dennd2c T C 3: 103,039,352 (GRCm39) S167P possibly damaging Het
Dock2 A G 11: 34,182,767 (GRCm39) probably null Het
Dok3 GCC GC 13: 55,672,168 (GRCm39) probably null Het
Ebf1 A T 11: 44,798,835 (GRCm39) I287L possibly damaging Het
Eci1 G A 17: 24,645,721 (GRCm39) probably null Het
Emb T A 13: 117,386,242 (GRCm39) I133N possibly damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbn2 T C 18: 58,183,348 (GRCm39) D1779G probably benign Het
Fgfr4 T A 13: 55,315,605 (GRCm39) probably null Het
Flt1 G A 5: 147,591,929 (GRCm39) T511M probably benign Het
Gys1 T C 7: 45,089,456 (GRCm39) L205P probably damaging Het
Hepacam2 A G 6: 3,483,379 (GRCm39) V134A probably damaging Het
Htr3a A G 9: 48,812,233 (GRCm39) V291A probably damaging Het
Ip6k3 T A 17: 27,364,053 (GRCm39) T332S probably benign Het
Klra6 A T 6: 129,995,915 (GRCm39) F148I probably damaging Het
Kntc1 T C 5: 123,927,162 (GRCm39) S1206P probably benign Het
Mbnl2 T A 14: 120,626,462 (GRCm39) C231S probably damaging Het
Mdn1 A T 4: 32,773,952 (GRCm39) D5521V probably damaging Het
Mylip G A 13: 45,557,946 (GRCm39) V52M possibly damaging Het
Naip6 A G 13: 100,444,763 (GRCm39) S232P probably benign Het
Ndc80 T C 17: 71,808,550 (GRCm39) K504R probably benign Het
Nf2 T C 11: 4,753,694 (GRCm39) N220S possibly damaging Het
Nfasc T A 1: 132,539,370 (GRCm39) I393F probably damaging Het
Or12d2 T C 17: 37,624,952 (GRCm39) T108A probably benign Het
Pabpc1 T C 15: 36,608,584 (GRCm39) Y56C probably damaging Het
Pcca A G 14: 122,938,542 (GRCm39) K498R probably damaging Het
Phldb1 A G 9: 44,627,045 (GRCm39) S467P probably damaging Het
Ptprn2 T C 12: 116,544,048 (GRCm39) S47P probably benign Het
Rtca A T 3: 116,291,293 (GRCm39) I229N possibly damaging Het
Sh3rf2 T A 18: 42,286,359 (GRCm39) S617R probably damaging Het
Slc14a2 T G 18: 78,190,295 (GRCm39) T885P possibly damaging Het
Sp100 A C 1: 85,627,357 (GRCm39) T417P possibly damaging Het
Tat A T 8: 110,722,846 (GRCm39) N303Y probably damaging Het
Tet2 A G 3: 133,185,892 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tnks1bp1 A G 2: 84,893,411 (GRCm39) S1113G probably benign Het
Tspear G A 10: 77,705,507 (GRCm39) E302K probably benign Het
Tulp3 A G 6: 128,314,722 (GRCm39) L23P probably damaging Het
Vti1b T C 12: 79,211,807 (GRCm39) E42G probably damaging Het
Yeats2 G T 16: 20,005,018 (GRCm39) E333* probably null Het
Zfp455 T G 13: 67,355,073 (GRCm39) C114G probably damaging Het
Zfp940 A T 7: 29,544,952 (GRCm39) C318* 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
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
Predicted Primers PCR Primer
(F):5'- TGAAGAATGTCCGCAACATCGACTC -3'
(R):5'- TCAAGGACCCTGCTCTCAAGCATC -3'

Sequencing Primer
(F):5'- ATAATGGGTTCCTCACGGC -3'
(R):5'- TCTGCTTTTCTGACCTTAAATGG -3'
Posted On 2014-05-23