Incidental Mutation 'R6218:Zfp418'
ID 503841
Institutional Source Beutler Lab
Gene Symbol Zfp418
Ensembl Gene ENSMUSG00000034538
Gene Name zinc finger protein 418
Synonyms A230102I05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6218 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 7171330-7183562 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7182628 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 530 (H530R)
Ref Sequence ENSEMBL: ENSMUSP00000057159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051435]
AlphaFold Q8BFS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000051435
AA Change: H530R

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: H530R

DomainStartEndE-ValueType
KRAB 25 78 2.58e-17 SMART
low complexity region 196 211 N/A INTRINSIC
ZnF_C2H2 256 278 6.32e-3 SMART
ZnF_C2H2 284 306 2.57e-3 SMART
ZnF_C2H2 312 334 1.56e-2 SMART
ZnF_C2H2 340 362 1.36e-2 SMART
ZnF_C2H2 368 390 1.82e-3 SMART
ZnF_C2H2 396 418 1.04e-3 SMART
ZnF_C2H2 424 446 2.75e-3 SMART
ZnF_C2H2 452 474 4.47e-3 SMART
ZnF_C2H2 480 502 1.58e-3 SMART
ZnF_C2H2 508 530 8.6e-5 SMART
ZnF_C2H2 536 558 7.78e-3 SMART
ZnF_C2H2 564 586 1.5e-4 SMART
ZnF_C2H2 592 614 4.54e-4 SMART
ZnF_C2H2 620 642 5.59e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,904 Q38K probably benign Het
9930111J21Rik2 A T 11: 49,019,307 N766K probably benign Het
Adam15 A C 3: 89,343,883 I505S probably benign Het
Apc2 T C 10: 80,306,420 M391T probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bclaf1 A G 10: 20,334,628 S840G probably benign Het
Cacna2d4 A G 6: 119,239,060 Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,747,928 probably null Het
Ddhd1 A G 14: 45,614,176 L141P probably damaging Het
Dnaaf3 A T 7: 4,523,672 S469T probably benign Het
Dzip3 A T 16: 48,958,465 M323K possibly damaging Het
E430018J23Rik C T 7: 127,393,409 A10T possibly damaging Het
Eci2 T A 13: 34,993,065 probably null Het
Fam109b T A 15: 82,343,716 H145Q probably benign Het
Fam227b A T 2: 126,126,962 V64E probably damaging Het
Galnt2 A G 8: 124,343,315 I524V probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm14548 A T 7: 3,894,032 S602T possibly damaging Het
Gm3443 T A 19: 21,555,746 S25T probably damaging Het
Gpr22 T A 12: 31,711,617 K14* probably null Het
Grip1 T C 10: 119,986,346 S405P possibly damaging Het
Helz2 C A 2: 181,232,294 V2136L probably benign Het
Helz2 T C 2: 181,235,945 H1020R probably damaging Het
Il1f5 G A 2: 24,277,490 probably benign Het
Iqsec1 T A 6: 90,689,635 S607C probably damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
L3mbtl3 T C 10: 26,292,747 I595V unknown Het
Large2 T C 2: 92,370,636 D65G probably damaging Het
Lrrfip1 T C 1: 91,082,159 Y122H probably damaging Het
Map1b A T 13: 99,433,206 D1002E unknown Het
Mink1 C T 11: 70,598,894 T59I possibly damaging Het
Mrvi1 G A 7: 110,876,905 T819M probably benign Het
Myo7b T C 18: 31,959,454 N2097D probably benign Het
Nbea C A 3: 55,628,484 C2893F probably damaging Het
Nlgn1 A T 3: 25,436,093 V490E probably damaging Het
Olfr1230 G T 2: 89,296,962 H103N probably damaging Het
Olfr131 A G 17: 38,082,729 M83T probably damaging Het
Olfr1318 T C 2: 112,156,356 I135T probably damaging Het
Olfr1369-ps1 G A 13: 21,116,231 E180K probably damaging Het
Olfr730 C A 14: 50,186,678 D180Y probably damaging Het
Pctp A G 11: 89,987,318 I130T probably benign Het
Pdcl3 T C 1: 38,988,071 probably null Het
Pkp1 T C 1: 135,879,908 K541E probably damaging Het
Plekhh2 G A 17: 84,591,564 V990I probably benign Het
Ppp1r3a A T 6: 14,718,431 V828D probably damaging Het
Prrc2b T C 2: 32,208,811 Y712H probably damaging Het
Prune2 T C 19: 17,121,562 S1477P probably benign Het
Psma5 A G 3: 108,279,802 K239R probably benign Het
Rhobtb1 G C 10: 69,270,456 A284P probably benign Het
Samsn1 G A 16: 75,945,274 noncoding transcript Het
Scel A G 14: 103,572,042 T273A probably benign Het
Slc22a5 T A 11: 53,891,618 probably benign Het
Slc25a37 A T 14: 69,249,504 M110K possibly damaging Het
Slc6a2 A T 8: 92,981,981 M242L probably benign Het
Slc8a3 C A 12: 81,199,567 W904L probably benign Het
Ss18l1 G A 2: 180,055,112 V109I probably benign Het
Tbx5 C T 5: 119,853,598 H245Y probably damaging Het
Thumpd2 C A 17: 81,052,913 L244F probably damaging Het
Tmem107 T A 11: 69,071,415 V66E probably damaging Het
Tnr T C 1: 159,888,314 V882A possibly damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttbk1 A G 17: 46,470,807 V340A possibly damaging Het
Veph1 T C 3: 66,255,060 E59G probably damaging Het
Vmn1r234 T A 17: 21,229,721 M299K possibly damaging Het
Vps13b T C 15: 35,770,464 Y2018H probably benign Het
Zbtb11 A G 16: 55,998,073 E620G probably benign Het
Other mutations in Zfp418
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Zfp418 APN 7 7181449 missense possibly damaging 0.72
IGL02351:Zfp418 APN 7 7174691 splice site probably benign
IGL02358:Zfp418 APN 7 7174691 splice site probably benign
R4355_Zfp418_487 UTSW 7 7172162 missense probably benign 0.02
R5592_zfp418_571 UTSW 7 7181315 missense possibly damaging 0.72
P0029:Zfp418 UTSW 7 7174637 missense probably damaging 0.98
R0018:Zfp418 UTSW 7 7182450 missense probably benign 0.06
R0018:Zfp418 UTSW 7 7182450 missense probably benign 0.06
R1065:Zfp418 UTSW 7 7181562 missense probably benign 0.18
R1168:Zfp418 UTSW 7 7182501 missense possibly damaging 0.91
R1660:Zfp418 UTSW 7 7181790 missense probably benign 0.04
R1937:Zfp418 UTSW 7 7182402 missense possibly damaging 0.71
R2266:Zfp418 UTSW 7 7182808 missense probably benign 0.18
R3119:Zfp418 UTSW 7 7181689 missense possibly damaging 0.53
R4355:Zfp418 UTSW 7 7172162 missense probably benign 0.02
R4539:Zfp418 UTSW 7 7181277 missense probably benign 0.18
R4735:Zfp418 UTSW 7 7182562 missense probably damaging 0.96
R4756:Zfp418 UTSW 7 7182763 missense possibly damaging 0.89
R4763:Zfp418 UTSW 7 7181445 missense possibly damaging 0.53
R4810:Zfp418 UTSW 7 7182847 missense possibly damaging 0.82
R5347:Zfp418 UTSW 7 7182535 missense probably benign 0.40
R5592:Zfp418 UTSW 7 7181315 missense possibly damaging 0.72
R5640:Zfp418 UTSW 7 7181981 nonsense probably null
R5974:Zfp418 UTSW 7 7182200 missense possibly damaging 0.95
R6209:Zfp418 UTSW 7 7182097 missense possibly damaging 0.51
R6502:Zfp418 UTSW 7 7182600 missense possibly damaging 0.86
R6619:Zfp418 UTSW 7 7181896 missense probably damaging 0.98
R7205:Zfp418 UTSW 7 7181563 missense probably benign 0.33
R7299:Zfp418 UTSW 7 7182828 missense possibly damaging 0.61
R7492:Zfp418 UTSW 7 7181397 missense possibly damaging 0.53
R7774:Zfp418 UTSW 7 7182777 missense possibly damaging 0.51
R7826:Zfp418 UTSW 7 7182669 missense probably benign 0.32
R7974:Zfp418 UTSW 7 7182168 missense possibly damaging 0.61
R8002:Zfp418 UTSW 7 7181874 missense probably benign 0.04
R8182:Zfp418 UTSW 7 7181659 missense probably benign 0.00
R8298:Zfp418 UTSW 7 7182815 nonsense probably null
R8773:Zfp418 UTSW 7 7182798 missense probably benign 0.06
R9280:Zfp418 UTSW 7 7181409 missense possibly damaging 0.53
R9318:Zfp418 UTSW 7 7182436 missense probably damaging 0.98
R9404:Zfp418 UTSW 7 7182105 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TCTATGCTTTCGCCAGAGAG -3'
(R):5'- TAGTTCGGCTGAAGGTCTTCC -3'

Sequencing Primer
(F):5'- CCTCAGAAAGGCCTTATGAATGTAG -3'
(R):5'- ATAAGGCCTTTCACCAGTGTG -3'
Posted On 2018-02-27