Incidental Mutation 'R8166:Zfp518b'
ID 633767
Institutional Source Beutler Lab
Gene Symbol Zfp518b
Ensembl Gene ENSMUSG00000046572
Gene Name zinc finger protein 518B
Synonyms 6820424L24Rik
MMRRC Submission 067592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8166 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 38825828-38842120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38831838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 56 (A56S)
Ref Sequence ENSEMBL: ENSMUSP00000137381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057258] [ENSMUST00000178760] [ENSMUST00000179555] [ENSMUST00000180214]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057258
AA Change: A56S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: A56S

DomainStartEndE-ValueType
ZnF_C2H2 138 160 2.32e-1 SMART
ZnF_C2H2 165 187 1.67e-2 SMART
ZnF_C2H2 193 216 1.16e-1 SMART
low complexity region 523 536 N/A INTRINSIC
low complexity region 636 645 N/A INTRINSIC
low complexity region 714 730 N/A INTRINSIC
low complexity region 1011 1023 N/A INTRINSIC
ZnF_C2H2 1044 1066 1.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178760
Predicted Effect probably damaging
Transcript: ENSMUST00000179555
AA Change: A56S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: A56S

DomainStartEndE-ValueType
ZnF_C2H2 138 160 2.32e-1 SMART
ZnF_C2H2 165 187 1.67e-2 SMART
ZnF_C2H2 193 216 1.16e-1 SMART
low complexity region 523 536 N/A INTRINSIC
low complexity region 636 645 N/A INTRINSIC
low complexity region 714 730 N/A INTRINSIC
low complexity region 1011 1023 N/A INTRINSIC
ZnF_C2H2 1044 1066 1.2e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180214
AA Change: A56S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136948
Gene: ENSMUSG00000046572
AA Change: A56S

DomainStartEndE-ValueType
ZnF_C2H2 138 160 2.32e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,144,232 (GRCm39) V569A probably benign Het
Actrt3 A G 3: 30,652,674 (GRCm39) F140S probably damaging Het
Alx1 T A 10: 102,845,224 (GRCm39) Q269L probably damaging Het
Amph G T 13: 19,132,660 (GRCm39) A20S possibly damaging Het
Aqr T A 2: 113,943,806 (GRCm39) M1111L possibly damaging Het
Atp10a A T 7: 58,457,270 (GRCm39) H923L possibly damaging Het
Bmpr1a A C 14: 34,147,026 (GRCm39) W249G probably damaging Het
Bmpr2 A T 1: 59,906,740 (GRCm39) N611I probably damaging Het
Cadm2 A G 16: 66,750,197 (GRCm39) L9S probably benign Het
Ccdc102a C A 8: 95,639,944 (GRCm39) A117S possibly damaging Het
Clec4f G T 6: 83,629,624 (GRCm39) S311R possibly damaging Het
Dchs2 T A 3: 83,261,640 (GRCm39) I2636N probably benign Het
Dync2h1 T A 9: 7,129,089 (GRCm39) K1809* probably null Het
Efs C T 14: 55,158,077 (GRCm39) R108Q probably damaging Het
Eif5b A G 1: 38,087,901 (GRCm39) T966A probably benign Het
Entrep2 A G 7: 64,409,153 (GRCm39) S414P probably benign Het
Flnc A C 6: 29,433,731 (GRCm39) N92H probably damaging Het
Gm13030 A T 4: 138,598,533 (GRCm39) L130H unknown Het
Gm17190 A C 13: 96,219,142 (GRCm39) R159S unknown Het
Hipk1 T C 3: 103,685,489 (GRCm39) Y42C possibly damaging Het
Ifi207 C A 1: 173,557,166 (GRCm39) C524F possibly damaging Het
Ifi207 A C 1: 173,557,504 (GRCm39) S411R probably benign Het
Ighv8-9 G T 12: 115,432,212 (GRCm39) P33H probably damaging Het
Igkv8-34 A G 6: 70,021,619 (GRCm39) V15A probably benign Het
Irx5 T A 8: 93,086,712 (GRCm39) probably null Het
Kcnh4 A G 11: 100,632,712 (GRCm39) L925P probably benign Het
Kctd9 G A 14: 67,967,141 (GRCm39) R153H possibly damaging Het
Lats1 A G 10: 7,577,880 (GRCm39) T335A probably benign Het
Med20 A G 17: 47,924,027 (GRCm39) T52A probably benign Het
Msantd4 A T 9: 4,384,095 (GRCm39) T139S possibly damaging Het
Mtif3 T C 5: 146,896,052 (GRCm39) T12A probably benign Het
N4bp2 T G 5: 65,977,655 (GRCm39) S1518A probably benign Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nasp A T 4: 116,468,112 (GRCm39) V291E probably benign Het
Ncapg2 T G 12: 116,376,036 (GRCm39) D40E probably benign Het
Nipsnap1 A G 11: 4,834,057 (GRCm39) D103G probably benign Het
Nsmce1 A G 7: 125,070,319 (GRCm39) L164P probably damaging Het
Ogdhl G A 14: 32,059,763 (GRCm39) V426I probably damaging Het
Or5p66 A G 7: 107,885,904 (GRCm39) V143A probably benign Het
P3h2 T C 16: 25,811,572 (GRCm39) E217G possibly damaging Het
Pnpt1 A G 11: 29,106,875 (GRCm39) I649V probably benign Het
Prxl2c A T 13: 64,456,921 (GRCm39) Y101N Het
Pum2 G A 12: 8,771,739 (GRCm39) A361T possibly damaging Het
Rictor G A 15: 6,798,815 (GRCm39) probably null Het
Rps6ka4 G A 19: 6,814,811 (GRCm39) R264W possibly damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall1 T C 8: 89,755,146 (GRCm39) T1278A probably benign Het
Scg2 T A 1: 79,413,300 (GRCm39) K434N possibly damaging Het
Suclg1 T A 6: 73,237,555 (GRCm39) V100D probably damaging Het
Tarbp1 T G 8: 127,153,867 (GRCm39) E1528D possibly damaging Het
Trgc1 A G 13: 19,400,772 (GRCm39) N167S Het
Tshz2 C A 2: 169,725,575 (GRCm39) T57K probably benign Het
Ttc22 G A 4: 106,491,673 (GRCm39) R229H probably damaging Het
Vcan A G 13: 89,840,855 (GRCm39) V1563A probably benign Het
Vmn1r68 A T 7: 10,261,888 (GRCm39) M70K probably benign Het
Vmn2r105 A T 17: 20,428,904 (GRCm39) I724N probably benign Het
Vmn2r96 T C 17: 18,802,744 (GRCm39) L26P probably damaging Het
Wdr72 G A 9: 74,120,610 (GRCm39) S955N probably benign Het
Other mutations in Zfp518b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Zfp518b APN 5 38,831,109 (GRCm39) missense possibly damaging 0.58
IGL01096:Zfp518b APN 5 38,830,131 (GRCm39) missense probably benign 0.01
IGL02150:Zfp518b APN 5 38,831,132 (GRCm39) missense probably damaging 1.00
IGL02150:Zfp518b APN 5 38,830,686 (GRCm39) missense probably damaging 1.00
IGL02491:Zfp518b APN 5 38,831,123 (GRCm39) missense possibly damaging 0.90
IGL02643:Zfp518b APN 5 38,831,498 (GRCm39) missense probably damaging 1.00
IGL02710:Zfp518b APN 5 38,830,061 (GRCm39) missense probably damaging 1.00
R0134:Zfp518b UTSW 5 38,832,002 (GRCm39) start codon destroyed probably null 0.92
R0284:Zfp518b UTSW 5 38,829,083 (GRCm39) missense probably damaging 1.00
R0308:Zfp518b UTSW 5 38,830,113 (GRCm39) missense possibly damaging 0.64
R0421:Zfp518b UTSW 5 38,831,918 (GRCm39) missense probably damaging 1.00
R0613:Zfp518b UTSW 5 38,830,946 (GRCm39) missense probably damaging 1.00
R1604:Zfp518b UTSW 5 38,830,949 (GRCm39) missense probably damaging 1.00
R1649:Zfp518b UTSW 5 38,829,224 (GRCm39) missense probably damaging 1.00
R1845:Zfp518b UTSW 5 38,829,084 (GRCm39) missense probably damaging 0.97
R1853:Zfp518b UTSW 5 38,830,750 (GRCm39) missense probably benign 0.00
R2015:Zfp518b UTSW 5 38,829,345 (GRCm39) missense probably benign 0.00
R2256:Zfp518b UTSW 5 38,828,979 (GRCm39) missense possibly damaging 0.90
R3687:Zfp518b UTSW 5 38,831,455 (GRCm39) missense probably damaging 1.00
R4275:Zfp518b UTSW 5 38,829,071 (GRCm39) missense probably damaging 1.00
R4600:Zfp518b UTSW 5 38,830,970 (GRCm39) missense probably damaging 0.98
R4603:Zfp518b UTSW 5 38,830,970 (GRCm39) missense probably damaging 0.98
R4739:Zfp518b UTSW 5 38,831,841 (GRCm39) missense possibly damaging 0.89
R5519:Zfp518b UTSW 5 38,831,441 (GRCm39) missense probably damaging 1.00
R6827:Zfp518b UTSW 5 38,828,882 (GRCm39) missense probably damaging 1.00
R6982:Zfp518b UTSW 5 38,830,248 (GRCm39) missense probably benign 0.00
R7263:Zfp518b UTSW 5 38,829,671 (GRCm39) missense probably damaging 1.00
R7271:Zfp518b UTSW 5 38,831,907 (GRCm39) missense probably benign 0.01
R7354:Zfp518b UTSW 5 38,840,122 (GRCm39) start gained probably benign
R7554:Zfp518b UTSW 5 38,830,415 (GRCm39) missense probably damaging 1.00
R7738:Zfp518b UTSW 5 38,829,530 (GRCm39) missense probably benign 0.20
R7817:Zfp518b UTSW 5 38,829,741 (GRCm39) missense not run
R8471:Zfp518b UTSW 5 38,831,426 (GRCm39) missense probably damaging 1.00
R8505:Zfp518b UTSW 5 38,830,119 (GRCm39) missense probably benign
R9102:Zfp518b UTSW 5 38,831,181 (GRCm39) missense probably benign 0.01
R9205:Zfp518b UTSW 5 38,831,501 (GRCm39) missense probably damaging 1.00
R9253:Zfp518b UTSW 5 38,829,601 (GRCm39) missense probably benign 0.00
R9511:Zfp518b UTSW 5 38,829,395 (GRCm39) missense possibly damaging 0.69
R9574:Zfp518b UTSW 5 38,830,773 (GRCm39) missense probably benign 0.00
R9648:Zfp518b UTSW 5 38,830,240 (GRCm39) missense probably damaging 1.00
R9686:Zfp518b UTSW 5 38,831,457 (GRCm39) missense probably damaging 1.00
Z1088:Zfp518b UTSW 5 38,831,636 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AATTTATTTACAGGGCTCGAGATGG -3'
(R):5'- CAGGTGGCTATGTGCATATGC -3'

Sequencing Primer
(F):5'- ACAGGGCTCGAGATGGTTTCC -3'
(R):5'- GCATATGCAGATAAGGGAGATGAAG -3'
Posted On 2020-07-13