Incidental Mutation 'R7263:Zfp518b'
ID 564738
Institutional Source Beutler Lab
Gene Symbol Zfp518b
Ensembl Gene ENSMUSG00000046572
Gene Name zinc finger protein 518B
Synonyms 6820424L24Rik
MMRRC Submission 045388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7263 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 38825828-38842120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38829671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 778 (I778T)
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: I778T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: I778T

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: I778T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: I778T

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: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,847,843 (GRCm39) H55N probably damaging Het
Acan G T 7: 78,742,066 (GRCm39) V488L probably damaging Het
Adam12 T C 7: 133,521,240 (GRCm39) E638G possibly damaging Het
Adamts20 T A 15: 94,220,772 (GRCm39) Q1387L possibly damaging Het
Adamts3 G T 5: 89,825,601 (GRCm39) D1079E probably benign Het
Barx1 G T 13: 48,818,555 (GRCm39) G93C probably damaging Het
Carmil2 C T 8: 106,419,677 (GRCm39) R828C probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc159 T C 9: 21,843,007 (GRCm39) M148T probably benign Het
Cdk5rap1 T A 2: 154,202,652 (GRCm39) N193Y probably benign Het
Csnk1g2 G A 10: 80,470,332 (GRCm39) G15D probably damaging Het
Dach1 T C 14: 98,406,295 (GRCm39) S151G probably benign Het
Elf5 C A 2: 103,269,645 (GRCm39) N75K probably benign Het
Elp3 T C 14: 65,802,782 (GRCm39) D272G probably damaging Het
Epb41l1 T A 2: 156,337,043 (GRCm39) probably null Het
Epha6 A G 16: 59,596,028 (GRCm39) Y888H probably damaging Het
Fibcd1 T C 2: 31,707,222 (GRCm39) Y345C probably damaging Het
Gjd3 C T 11: 102,690,963 (GRCm39) E347K possibly damaging Het
Gse1 A G 8: 121,300,910 (GRCm39) D892G unknown Het
Gtpbp6 A T 5: 110,251,915 (GRCm39) I506N probably benign Het
Hivep1 T A 13: 42,311,668 (GRCm39) F1303I possibly damaging Het
Il21r A G 7: 125,232,077 (GRCm39) T502A probably benign Het
Ints1 T C 5: 139,749,834 (GRCm39) T997A possibly damaging Het
Invs C A 4: 48,396,381 (GRCm39) N351K probably damaging Het
Iqcm A G 8: 76,489,701 (GRCm39) T390A probably benign Het
Iqcn A G 8: 71,163,425 (GRCm39) N873D possibly damaging Het
Kcnh4 C T 11: 100,632,643 (GRCm39) G948D probably benign Het
Kcnh7 T A 2: 62,566,314 (GRCm39) probably null Het
Lrrc72 A G 12: 36,258,611 (GRCm39) V82A probably damaging Het
Macf1 A T 4: 123,271,943 (GRCm39) L6535Q probably damaging Het
Ncor2 G C 5: 125,109,196 (GRCm39) L585V Het
Nipal2 G C 15: 34,578,904 (GRCm39) Y298* probably null Het
Nipsnap1 C T 11: 4,832,960 (GRCm39) probably benign Het
Or12e1 T A 2: 87,022,476 (GRCm39) C148* probably null Het
Or4x12-ps1 T C 2: 89,916,332 (GRCm39) I158V not run Het
Or51g1 A T 7: 102,633,524 (GRCm39) Y282* probably null Het
Pcdhga4 C T 18: 37,819,873 (GRCm39) T474I probably benign Het
Pdp1 G T 4: 11,960,821 (GRCm39) Q516K possibly damaging Het
Pik3c2b C T 1: 133,017,940 (GRCm39) P934L probably damaging Het
Pp2d1 A G 17: 53,822,358 (GRCm39) I236T probably benign Het
Pygm G A 19: 6,438,357 (GRCm39) R278H probably damaging Het
Rb1 A T 14: 73,520,363 (GRCm39) C215* probably null Het
Rgs22 A G 15: 36,015,789 (GRCm39) S1156P possibly damaging Het
Rgs9bp T C 7: 35,284,126 (GRCm39) T174A probably damaging Het
Rnf133 A T 6: 23,649,667 (GRCm39) Y130* probably null Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Serpinb6e A T 13: 34,022,923 (GRCm39) F153L probably benign Het
Slc22a1 A T 17: 12,885,587 (GRCm39) Y200N probably damaging Het
Slc22a22 C A 15: 57,113,107 (GRCm39) M377I probably benign Het
Slc36a4 A G 9: 15,633,452 (GRCm39) probably null Het
Slc39a6 A G 18: 24,734,260 (GRCm39) V143A probably benign Het
Slf2 G A 19: 44,926,863 (GRCm39) probably null Het
Sowaha T C 11: 53,370,485 (GRCm39) K84E probably benign Het
Spef2 T G 15: 9,653,098 (GRCm39) probably null Het
Sphkap A T 1: 83,254,399 (GRCm39) F1117I probably damaging Het
Tas2r113 T C 6: 132,870,539 (GRCm39) I189T possibly damaging Het
Tescl T C 7: 24,033,247 (GRCm39) E26G possibly damaging Het
Trpm6 A T 19: 18,854,150 (GRCm39) I1847F probably damaging Het
Uba1y T A Y: 822,200 (GRCm39) C178S possibly damaging Het
Ush2a T A 1: 188,175,526 (GRCm39) V1208D possibly damaging Het
Usp13 G C 3: 32,949,000 (GRCm39) A446P probably damaging Het
Usp7 A T 16: 8,514,588 (GRCm39) C722S possibly damaging Het
Vmn1r52 A G 6: 90,156,535 (GRCm39) S280G probably benign Het
Vmn2r84 T C 10: 130,225,077 (GRCm39) K478E probably damaging Het
Zfp112 C A 7: 23,824,952 (GRCm39) L311I probably benign Het
Zfp180 G T 7: 23,805,125 (GRCm39) E515* probably null Het
Zfp800 A T 6: 28,243,662 (GRCm39) H434Q 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
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'- CCACTTCTGCATGTCAAGGG -3'
(R):5'- AGCAACTCCCAAGGCTATTC -3'

Sequencing Primer
(F):5'- CATGTCAAGGGCTGGGAGC -3'
(R):5'- CAAGAAATGAGTGTGTCCCTTACTGG -3'
Posted On 2019-06-26