Incidental Mutation 'R7554:Zfp518b'
ID 584605
Institutional Source Beutler Lab
Gene Symbol Zfp518b
Ensembl Gene ENSMUSG00000046572
Gene Name zinc finger protein 518B
Synonyms 6820424L24Rik
MMRRC Submission 045651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 38825828-38842120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38830415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 530 (P530L)
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: P530L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: P530L

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: P530L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: P530L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,686 (GRCm39) F185I probably damaging Het
Abi3bp T A 16: 56,438,575 (GRCm39) probably null Het
Acot5 T A 12: 84,120,254 (GRCm39) L203H probably damaging Het
Alad C T 4: 62,430,023 (GRCm39) probably null Het
Alkbh5 C T 11: 60,429,415 (GRCm39) T56I probably benign Het
Apbb1ip G A 2: 22,713,558 (GRCm39) D138N unknown Het
BC049715 T G 6: 136,817,295 (GRCm39) S178R probably damaging Het
C1rb C A 6: 124,557,365 (GRCm39) H501N probably damaging Het
Celsr3 A T 9: 108,718,408 (GRCm39) M2327L probably benign Het
Cers4 G A 8: 4,565,718 (GRCm39) V55I probably benign Het
Cngb3 A T 4: 19,461,753 (GRCm39) K545* probably null Het
Crb1 C T 1: 139,265,019 (GRCm39) C133Y probably damaging Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Cyp7b1 C T 3: 18,151,610 (GRCm39) G201D probably benign Het
Dcun1d2 A T 8: 13,331,077 (GRCm39) C18S probably benign Het
Ddx39b A T 17: 35,466,006 (GRCm39) I176F probably benign Het
Dnah7a A G 1: 53,567,857 (GRCm39) I1913T possibly damaging Het
Eif2ak1 T C 5: 143,816,296 (GRCm39) I198T probably damaging Het
Esp34 G A 17: 38,866,782 (GRCm39) M75I probably benign Het
Fam98a G T 17: 75,854,670 (GRCm39) C46* probably null Het
Fanci A T 7: 79,062,500 (GRCm39) N342I probably damaging Het
Fat1 A T 8: 45,490,202 (GRCm39) I3705F possibly damaging Het
Fbxw7 T A 3: 84,883,620 (GRCm39) V598D Het
Gas2l2 G A 11: 83,315,236 (GRCm39) Q306* probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gigyf2 T A 1: 87,335,292 (GRCm39) S378T unknown Het
Hao1 C T 2: 134,372,538 (GRCm39) V157M possibly damaging Het
Hdlbp C T 1: 93,365,031 (GRCm39) V79M probably damaging Het
Htt G A 5: 35,022,084 (GRCm39) R1676H probably damaging Het
Ift56 T A 6: 38,362,435 (GRCm39) L70Q probably null Het
Klhl11 A G 11: 100,354,774 (GRCm39) V349A probably benign Het
Lama2 T C 10: 27,031,492 (GRCm39) E1522G probably damaging Het
Map3k4 T A 17: 12,451,300 (GRCm39) K1531M probably damaging Het
Map3k4 T A 17: 12,451,301 (GRCm39) K1531* probably null Het
Mapk15 A G 15: 75,867,745 (GRCm39) Y120C possibly damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mgat4d A C 8: 84,082,402 (GRCm39) K117N probably benign Het
Mid1 G T X: 168,769,010 (GRCm39) S468I possibly damaging Het
Mmp8 T C 9: 7,563,112 (GRCm39) L225P probably damaging Het
Mrps31 A G 8: 22,911,445 (GRCm39) K229R possibly damaging Het
Muc5b A T 7: 141,412,513 (GRCm39) T1820S unknown Het
Myof T C 19: 37,942,958 (GRCm39) T707A probably benign Het
Nckap5l A T 15: 99,327,261 (GRCm39) S143T probably benign Het
Notch3 A G 17: 32,341,345 (GRCm39) S2136P probably benign Het
Nphp3 A T 9: 103,919,270 (GRCm39) D1306V probably damaging Het
Or10ag56 T A 2: 87,139,349 (GRCm39) M92K probably damaging Het
Or1e1b-ps1 C T 11: 73,845,630 (GRCm39) T38I probably damaging Het
Or2at1 T A 7: 99,417,210 (GRCm39) N280K possibly damaging Het
Or52n1 T C 7: 104,383,074 (GRCm39) I166V probably benign Het
Or56b1 T C 7: 104,285,733 (GRCm39) M284T probably benign Het
Or5k15 T C 16: 58,709,769 (GRCm39) I271M probably benign Het
Pabpc4l T A 3: 46,401,549 (GRCm39) T32S probably benign Het
Pcdhb10 A C 18: 37,544,935 (GRCm39) T4P probably benign Het
Pkhd1l1 A G 15: 44,358,866 (GRCm39) I358M probably damaging Het
Plekhg1 A G 10: 3,913,647 (GRCm39) E1178G Het
Prkcd A T 14: 30,331,220 (GRCm39) Y52N probably damaging Het
Rasa3 G A 8: 13,645,390 (GRCm39) T183M probably damaging Het
Rbm26 G T 14: 105,398,029 (GRCm39) A31D unknown Het
Scara3 T C 14: 66,158,299 (GRCm39) T570A possibly damaging Het
Sec24d T A 3: 123,149,423 (GRCm39) V810D probably damaging Het
Sgcz A T 8: 38,030,426 (GRCm39) probably null Het
Stt3b A G 9: 115,109,477 (GRCm39) probably null Het
Synpo G T 18: 60,736,405 (GRCm39) Q514K probably benign Het
Tagln2 G T 1: 172,333,411 (GRCm39) K88N probably damaging Het
Tcaf1 T A 6: 42,654,388 (GRCm39) K601N probably benign Het
Tent4a G T 13: 69,648,191 (GRCm39) H734Q probably damaging Het
Tprn T C 2: 25,153,811 (GRCm39) F371S probably damaging Het
Ttn A T 2: 76,671,652 (GRCm39) V11304E unknown Het
Ttn C T 2: 76,706,207 (GRCm39) W9171* probably null Het
Vmn2r50 A T 7: 9,784,066 (GRCm39) M136K probably null Het
Zfp941 C A 7: 140,391,970 (GRCm39) S463I possibly 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
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
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'- AGGAAACCTGGCCCGTATTTC -3'
(R):5'- CCTCGGTTCCGATACAATCAAGG -3'

Sequencing Primer
(F):5'- GGCCCGTATTTCCCACTG -3'
(R):5'- CGGTTCCGATACAATCAAGGAGTTAC -3'
Posted On 2019-10-17