Incidental Mutation 'R4275:Zfp518b'
ID 324749
Institutional Source Beutler Lab
Gene Symbol Zfp518b
Ensembl Gene ENSMUSG00000046572
Gene Name zinc finger protein 518B
Synonyms 6820424L24Rik
MMRRC Submission 041646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4275 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 38825828-38842120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38829071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 978 (V978A)
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: V978A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: V978A

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: V978A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: V978A

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: ENSMUST00000180214
SMART Domains Protein: ENSMUSP00000136948
Gene: ENSMUSG00000046572

DomainStartEndE-ValueType
ZnF_C2H2 138 160 2.32e-1 SMART
Meta Mutation Damage Score 0.5283 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T C 1: 154,369,071 (GRCm39) Y322C probably damaging Het
Camsap2 A G 1: 136,198,614 (GRCm39) V1462A probably benign Het
D3Ertd751e C A 3: 41,710,589 (GRCm39) probably benign Het
Dhcr7 C T 7: 143,396,964 (GRCm39) A152V probably damaging Het
Enpep A T 3: 129,125,927 (GRCm39) N68K probably benign Het
Fam131b G A 6: 42,298,241 (GRCm39) L43F probably damaging Het
Fbxl5 T A 5: 43,920,114 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hycc2 T C 1: 58,569,092 (GRCm39) T440A probably benign Het
Igf2 T C 7: 142,209,523 (GRCm39) M46V probably benign Het
Kntc1 T A 5: 123,905,842 (GRCm39) Y367N probably damaging Het
Mapk8ip2 T C 15: 89,343,198 (GRCm39) W647R probably damaging Het
Mettl21c C T 1: 44,049,716 (GRCm39) V110I probably damaging Het
Mrgprh T C 17: 13,096,114 (GRCm39) L118P probably damaging Het
Myadm A G 7: 3,345,618 (GRCm39) T127A probably benign Het
Myh10 A T 11: 68,642,766 (GRCm39) probably null Het
Nadk T A 4: 155,668,712 (GRCm39) Y128N probably benign Het
Or5g27 T C 2: 85,410,207 (GRCm39) V208A probably benign Het
Or8k39 T C 2: 86,563,936 (GRCm39) T7A probably damaging Het
Papolg A G 11: 23,818,378 (GRCm39) I500T probably benign Het
Pkhd1 A T 1: 20,128,608 (GRCm39) C4032S probably benign Het
Rnase1 A T 14: 51,383,327 (GRCm39) L9Q probably damaging Het
Rspry1 G T 8: 95,376,389 (GRCm39) V304L probably benign Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Scpep1 T C 11: 88,837,968 (GRCm39) probably null Het
Serpina3m T A 12: 104,355,375 (GRCm39) I14N probably damaging Het
Smg6 A C 11: 74,884,700 (GRCm39) probably benign Het
Suz12 T C 11: 79,920,879 (GRCm39) M593T probably damaging Het
Tmem139 A G 6: 42,241,039 (GRCm39) E208G probably damaging Het
Tnxb A G 17: 34,917,205 (GRCm39) Y2200C probably damaging Het
Usp19 T G 9: 108,375,893 (GRCm39) V911G probably damaging Het
Vipr1 T C 9: 121,493,684 (GRCm39) L245P probably damaging Het
Vmn2r105 T A 17: 20,448,902 (GRCm39) I92F probably damaging Het
Zbtb47 T A 9: 121,595,605 (GRCm39) V576D probably damaging 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
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
R8166:Zfp518b UTSW 5 38,831,838 (GRCm39) missense probably damaging 0.99
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'- ACTTAAAGACACACTGGGCG -3'
(R):5'- AATCCCGGCCGTTATTTCAAAG -3'

Sequencing Primer
(F):5'- GGTCGTCCGGCATCGAG -3'
(R):5'- GGCCGTTATTTCAAAGACCCC -3'
Posted On 2015-06-24