Incidental Mutation 'R1943:Zfp512b'
ID 216350
Institutional Source Beutler Lab
Gene Symbol Zfp512b
Ensembl Gene ENSMUSG00000000823
Gene Name zinc finger protein 512B
Synonyms LOC269401, Znf512b
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181223925-181234572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181230208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 516 (H516R)
Ref Sequence ENSEMBL: ENSMUSP00000115601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000132714] [ENSMUST00000153998] [ENSMUST00000140103]
AlphaFold Q6PHP4
Predicted Effect probably damaging
Transcript: ENSMUST00000108789
AA Change: H506R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: H506R

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
ZnF_C2H2 106 128 5.83e1 SMART
ZnF_C2H2 141 164 3.89e-3 SMART
internal_repeat_1 168 224 4.38e-14 PROSPERO
internal_repeat_1 246 302 4.38e-14 PROSPERO
ZnF_C2H2 487 511 5.68e1 SMART
ZnF_C2H2 517 540 2.91e-2 SMART
low complexity region 547 560 N/A INTRINSIC
ZnF_C2H2 571 593 1.59e1 SMART
ZnF_C2H2 607 630 4.4e-2 SMART
Blast:ZnF_C2H2 727 756 8e-11 BLAST
ZnF_C2H2 761 784 1.45e-2 SMART
low complexity region 808 832 N/A INTRINSIC
low complexity region 838 856 N/A INTRINSIC
low complexity region 858 866 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128553
AA Change: H516R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: H516R

DomainStartEndE-ValueType
ZnF_C2H2 85 107 5.83e1 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 130 140 N/A INTRINSIC
ZnF_C2H2 151 174 3.89e-3 SMART
internal_repeat_1 178 234 1.6e-14 PROSPERO
internal_repeat_1 256 312 1.6e-14 PROSPERO
ZnF_C2H2 497 521 5.68e1 SMART
ZnF_C2H2 527 550 2.91e-2 SMART
low complexity region 557 570 N/A INTRINSIC
ZnF_C2H2 581 603 1.59e1 SMART
ZnF_C2H2 617 640 4.4e-2 SMART
internal_repeat_2 723 761 4.94e-7 PROSPERO
ZnF_C2H2 771 794 1.45e-2 SMART
low complexity region 818 842 N/A INTRINSIC
low complexity region 848 866 N/A INTRINSIC
low complexity region 868 876 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131866
Predicted Effect unknown
Transcript: ENSMUST00000132538
AA Change: H64R
SMART Domains Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823
AA Change: H64R

DomainStartEndE-ValueType
ZnF_C2H2 46 70 5.68e1 SMART
ZnF_C2H2 76 99 2.91e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133598
SMART Domains Protein: ENSMUSP00000114378
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150552
Predicted Effect probably benign
Transcript: ENSMUST00000144856
SMART Domains Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:CPT 83 211 2.7e-10 PFAM
Pfam:PRK 85 253 7.7e-56 PFAM
Pfam:AAA_17 86 240 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153998
SMART Domains Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140103
SMART Domains Protein: ENSMUSP00000123579
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
Blast:ZnF_C2H2 2 24 8e-7 BLAST
ZnF_C2H2 29 52 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135561
SMART Domains Protein: ENSMUSP00000121721
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.45e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly damaging Het
Other mutations in Zfp512b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Zfp512b APN 2 181,228,862 (GRCm39) missense probably damaging 0.98
IGL00667:Zfp512b APN 2 181,231,526 (GRCm39) missense probably damaging 0.97
IGL00763:Zfp512b APN 2 181,231,944 (GRCm39) missense probably damaging 1.00
IGL01448:Zfp512b APN 2 181,229,578 (GRCm39) missense possibly damaging 0.62
IGL01788:Zfp512b APN 2 181,230,556 (GRCm39) missense possibly damaging 0.86
IGL02048:Zfp512b APN 2 181,231,715 (GRCm39) missense possibly damaging 0.77
IGL02752:Zfp512b APN 2 181,229,864 (GRCm39) missense possibly damaging 0.46
IGL03238:Zfp512b APN 2 181,231,553 (GRCm39) missense probably damaging 1.00
R0421:Zfp512b UTSW 2 181,230,051 (GRCm39) nonsense probably null
R0507:Zfp512b UTSW 2 181,226,757 (GRCm39) unclassified probably benign
R0713:Zfp512b UTSW 2 181,230,093 (GRCm39) missense possibly damaging 0.79
R1074:Zfp512b UTSW 2 181,230,972 (GRCm39) missense probably damaging 0.96
R1513:Zfp512b UTSW 2 181,230,982 (GRCm39) missense probably benign 0.00
R1560:Zfp512b UTSW 2 181,230,472 (GRCm39) missense probably benign 0.00
R1595:Zfp512b UTSW 2 181,230,229 (GRCm39) missense probably damaging 1.00
R1673:Zfp512b UTSW 2 181,230,286 (GRCm39) missense possibly damaging 0.61
R1845:Zfp512b UTSW 2 181,227,528 (GRCm39) missense probably damaging 1.00
R1888:Zfp512b UTSW 2 181,230,235 (GRCm39) missense probably damaging 0.99
R1888:Zfp512b UTSW 2 181,230,235 (GRCm39) missense probably damaging 0.99
R1975:Zfp512b UTSW 2 181,228,878 (GRCm39) nonsense probably null
R2520:Zfp512b UTSW 2 181,231,295 (GRCm39) missense probably damaging 1.00
R3876:Zfp512b UTSW 2 181,230,556 (GRCm39) frame shift probably null
R3877:Zfp512b UTSW 2 181,230,556 (GRCm39) frame shift probably null
R4171:Zfp512b UTSW 2 181,232,391 (GRCm39) splice site probably null
R4607:Zfp512b UTSW 2 181,230,567 (GRCm39) missense probably damaging 1.00
R4732:Zfp512b UTSW 2 181,230,532 (GRCm39) missense probably benign
R4733:Zfp512b UTSW 2 181,230,532 (GRCm39) missense probably benign
R4766:Zfp512b UTSW 2 181,226,888 (GRCm39) unclassified probably benign
R4888:Zfp512b UTSW 2 181,228,856 (GRCm39) missense probably damaging 1.00
R4965:Zfp512b UTSW 2 181,228,131 (GRCm39) missense probably damaging 1.00
R5632:Zfp512b UTSW 2 181,227,461 (GRCm39) missense probably benign 0.27
R6897:Zfp512b UTSW 2 181,232,273 (GRCm39) missense probably damaging 1.00
R6970:Zfp512b UTSW 2 181,228,141 (GRCm39) missense possibly damaging 0.92
R7432:Zfp512b UTSW 2 181,231,649 (GRCm39) missense probably benign
R7560:Zfp512b UTSW 2 181,228,875 (GRCm39) missense probably damaging 1.00
R7935:Zfp512b UTSW 2 181,231,689 (GRCm39) missense probably damaging 1.00
R8045:Zfp512b UTSW 2 181,226,617 (GRCm39) makesense probably null
R8321:Zfp512b UTSW 2 181,228,931 (GRCm39) missense possibly damaging 0.86
R8821:Zfp512b UTSW 2 181,228,525 (GRCm39) missense probably benign 0.01
R8913:Zfp512b UTSW 2 181,227,282 (GRCm39) missense
R9010:Zfp512b UTSW 2 181,230,011 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TACCTTGGCACTGTGTTCAGC -3'
(R):5'- CTGGATCCTGTAGCAAAGGC -3'

Sequencing Primer
(F):5'- GCACTGTGTTCAGCCATGG -3'
(R):5'- TCCTGTAGCAAAGGCATCGG -3'
Posted On 2014-08-01