Incidental Mutation 'R1447:Zfp532'
ID 160738
Institutional Source Beutler Lab
Gene Symbol Zfp532
Ensembl Gene ENSMUSG00000042439
Gene Name zinc finger protein 532
Synonyms C530030I18Rik
MMRRC Submission 039502-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R1447 (G1)
Quality Score 210
Status Not validated
Chromosome 18
Chromosomal Location 65713301-65822514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65758061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 665 (R665S)
Ref Sequence ENSEMBL: ENSMUSP00000138315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182979] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000183236] [ENSMUST00000183326] [ENSMUST00000183319]
AlphaFold Q6NXK2
Predicted Effect probably damaging
Transcript: ENSMUST00000049016
AA Change: R665S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: R665S

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: R665S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: R665S

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: R665S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: R665S

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 possibly damaging
Transcript: ENSMUST00000182979
AA Change: R665S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: R665S

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 damaging
Transcript: ENSMUST00000182852
AA Change: R665S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: R665S

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: ENSMUST00000183157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183184
Predicted Effect probably benign
Transcript: ENSMUST00000182973
Predicted Effect probably benign
Transcript: ENSMUST00000183236
Predicted Effect probably benign
Transcript: ENSMUST00000183326
Predicted Effect probably benign
Transcript: ENSMUST00000183319
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 84.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,447 (GRCm39) D603V probably benign Het
Ahnak A T 19: 8,984,446 (GRCm39) E1910V probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amotl1 A G 9: 14,467,038 (GRCm39) V704A probably benign Het
Ankrd50 A T 3: 38,509,691 (GRCm39) V892E probably damaging Het
Aoc1 G A 6: 48,883,176 (GRCm39) V351I probably benign Het
Atp6v1b1 T C 6: 83,734,924 (GRCm39) V412A possibly damaging Het
Atp8b2 A T 3: 89,851,477 (GRCm39) I906N probably damaging Het
Bltp1 T C 3: 37,019,735 (GRCm39) L2048P probably damaging Het
Bnc2 A G 4: 84,211,457 (GRCm39) V304A probably benign Het
Btaf1 A G 19: 36,969,854 (GRCm39) D1176G probably benign Het
C1qtnf3 G A 15: 10,952,735 (GRCm39) G66R probably damaging Het
Ccdc162 T C 10: 41,456,243 (GRCm39) E360G probably damaging Het
Csmd1 C A 8: 15,975,306 (GRCm39) G2968* probably null Het
Cyp2j7 A T 4: 96,083,530 (GRCm39) F473L possibly damaging Het
Ddx24 T C 12: 103,390,566 (GRCm39) K142E possibly damaging Het
Dnah1 A T 14: 31,028,855 (GRCm39) M625K probably benign Het
Dnah9 A T 11: 65,999,308 (GRCm39) Y944N possibly damaging Het
Eef1akmt1 T A 14: 57,803,441 (GRCm39) K38* probably null Het
Enpp2 C T 15: 54,782,994 (GRCm39) probably null Het
Eps8l1 A G 7: 4,477,055 (GRCm39) E508G probably damaging Het
Etaa1 A T 11: 17,896,625 (GRCm39) D497E possibly damaging Het
Fam181b C T 7: 92,729,368 (GRCm39) A47V probably damaging Het
Fubp3 T C 2: 31,490,559 (GRCm39) V221A probably damaging Het
Golga2 T C 2: 32,187,788 (GRCm39) V191A possibly damaging Het
Haus5 G T 7: 30,361,216 (GRCm39) probably null Het
Hydin T C 8: 111,249,798 (GRCm39) L2247P probably damaging Het
Lama5 A C 2: 179,827,671 (GRCm39) I2197S probably damaging Het
Mapre3 C T 5: 31,019,151 (GRCm39) probably benign Het
Mast2 C A 4: 116,169,210 (GRCm39) M733I probably benign Het
Mphosph10 A T 7: 64,030,698 (GRCm39) F514I probably damaging Het
Mterf3 A G 13: 67,065,103 (GRCm39) L266P probably damaging Het
Nup205 A G 6: 35,192,120 (GRCm39) D1114G probably benign Het
Or1ak2 T G 2: 36,827,788 (GRCm39) V219G possibly damaging Het
Or1e21 A G 11: 73,344,700 (GRCm39) F113L probably benign Het
Phf24 G T 4: 42,938,232 (GRCm39) E119* probably null Het
Pik3r5 G A 11: 68,385,003 (GRCm39) R636Q probably benign Het
Plaat3 G A 19: 7,556,598 (GRCm39) R133H probably benign Het
Rida T A 15: 34,488,757 (GRCm39) Q45L possibly damaging Het
Ros1 T C 10: 51,974,954 (GRCm39) T1544A possibly damaging Het
Rpl7 T A 1: 16,172,821 (GRCm39) Y166F probably benign Het
Rps6ka5 A G 12: 100,544,084 (GRCm39) I338T probably benign Het
Scn3a A T 2: 65,300,324 (GRCm39) N1347K probably damaging Het
Serpinb6d A G 13: 33,854,739 (GRCm39) D238G probably benign Het
Sh3rf2 T A 18: 42,234,736 (GRCm39) I173N probably benign Het
Smarcc2 T C 10: 128,305,660 (GRCm39) probably null Het
Thoc2l T C 5: 104,670,070 (GRCm39) S1531P possibly damaging Het
Thsd4 T C 9: 59,904,496 (GRCm39) N567D probably benign Het
Tmprss13 C A 9: 45,239,878 (GRCm39) P62Q unknown Het
Tmprss7 T C 16: 45,501,033 (GRCm39) Q256R probably benign Het
Tssc4 A G 7: 142,623,892 (GRCm39) T67A probably benign Het
Tssk5 G A 15: 76,256,304 (GRCm39) Q372* probably null Het
Usp47 G T 7: 111,673,775 (GRCm39) probably null Het
Utp15 A G 13: 98,389,386 (GRCm39) I304T possibly damaging Het
Vmn1r35 A C 6: 66,655,890 (GRCm39) V93G probably benign Het
Zfhx3 A C 8: 109,675,076 (GRCm39) Q2042P probably benign Het
Zfp976 G T 7: 42,262,023 (GRCm39) P605T possibly damaging Het
Zfpl1 A G 19: 6,132,649 (GRCm39) V125A 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCAAACTCGTGCCAAAGACTGTG -3'
(R):5'- TATGCCAGGCTGGACTTTTGGGAC -3'

Sequencing Primer
(F):5'- CTTTCAACAAGGTGCTGAGC -3'
(R):5'- ACAGTGTGTGTGGCAGCTC -3'
Posted On 2014-03-14