Incidental Mutation 'R9480:Zfp180'
ID 716180
Institutional Source Beutler Lab
Gene Symbol Zfp180
Ensembl Gene ENSMUSG00000057101
Gene Name zinc finger protein 180
Synonyms HHZ168, D130011P11, 2310040I01Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.582) question?
Stock # R9480 (G1)
Quality Score 168.009
Status Not validated
Chromosome 7
Chromosomal Location 23781349-23807138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23804628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 349 (N349S)
Ref Sequence ENSEMBL: ENSMUSP00000064611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]
AlphaFold Q6NZI9
Predicted Effect probably benign
Transcript: ENSMUST00000068975
AA Change: N349S

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: N349S

DomainStartEndE-ValueType
Blast:KRAB 46 103 7e-14 BLAST
ZnF_C2H2 318 340 3.21e-4 SMART
ZnF_C2H2 346 368 3.39e-3 SMART
ZnF_C2H2 374 396 1.72e-4 SMART
ZnF_C2H2 402 424 4.87e-4 SMART
ZnF_C2H2 430 452 1.58e-3 SMART
ZnF_C2H2 458 480 5.99e-4 SMART
ZnF_C2H2 486 508 2.12e-4 SMART
ZnF_C2H2 514 536 1.6e-4 SMART
ZnF_C2H2 542 564 3.95e-4 SMART
ZnF_C2H2 570 592 5.9e-3 SMART
ZnF_C2H2 598 620 1.12e-3 SMART
ZnF_C2H2 626 648 4.11e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203854
SMART Domains Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101

DomainStartEndE-ValueType
Blast:KRAB 12 69 4e-14 BLAST
ZnF_C2H2 284 306 3.21e-4 SMART
ZnF_C2H2 312 334 3.39e-3 SMART
ZnF_C2H2 340 362 1.72e-4 SMART
ZnF_C2H2 368 390 4.87e-4 SMART
ZnF_C2H2 396 418 1.58e-3 SMART
ZnF_C2H2 424 446 5.99e-4 SMART
ZnF_C2H2 452 474 2.12e-4 SMART
ZnF_C2H2 480 502 1.6e-4 SMART
ZnF_C2H2 508 530 3.95e-4 SMART
ZnF_C2H2 536 558 5.9e-3 SMART
ZnF_C2H2 564 586 1.12e-3 SMART
ZnF_C2H2 592 614 4.11e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206184
Predicted Effect probably benign
Transcript: ENSMUST00000207002
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,211,889 (GRCm39) W142R probably damaging Het
Abcc6 A G 7: 45,629,197 (GRCm39) S1350P probably damaging Het
Abraxas2 G T 7: 132,473,323 (GRCm39) V84L probably benign Het
Adam12 T A 7: 133,736,470 (GRCm39) I81F probably damaging Het
Adam22 A G 5: 8,193,077 (GRCm39) V376A probably benign Het
Anapc11 T A 11: 120,496,176 (GRCm39) I60N probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,690,420 (GRCm39) V876E possibly damaging Het
Bcar3 C T 3: 122,277,618 (GRCm39) R21* probably null Het
Calb1 T A 4: 15,885,608 (GRCm39) S60T probably benign Het
Ceacam9 A G 7: 16,457,783 (GRCm39) T99A probably damaging Het
Cemip2 C A 19: 21,775,622 (GRCm39) H288Q possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cnot1 T C 8: 96,497,338 (GRCm39) D213G possibly damaging Het
Col23a1 T A 11: 51,207,774 (GRCm39) C105S unknown Het
Cxcl2 T C 5: 91,052,029 (GRCm39) V45A possibly damaging Het
Ddx21 T C 10: 62,434,652 (GRCm39) T36A probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dus2 C T 8: 106,757,052 (GRCm39) Q81* probably null Het
Fat3 T C 9: 15,942,703 (GRCm39) D1223G probably damaging Het
Fgf3 G T 7: 144,396,619 (GRCm39) R211L possibly damaging Het
Galnt17 T A 5: 130,935,576 (GRCm39) E369V probably damaging Het
Gatad2a T C 8: 70,388,459 (GRCm39) D76G probably damaging Het
Gin1 A G 1: 97,705,198 (GRCm39) E96G probably damaging Het
Gpr55 A C 1: 85,868,977 (GRCm39) Y201* probably null Het
Hgsnat T C 8: 26,442,029 (GRCm39) N499D possibly damaging Het
Hipk2 G T 6: 38,680,377 (GRCm39) P988T probably benign Het
Hivep1 A T 13: 42,337,058 (GRCm39) Q2379L probably damaging Het
Kat14 T A 2: 144,215,745 (GRCm39) C77S probably damaging Het
Klhl25 T C 7: 75,516,120 (GRCm39) V342A probably damaging Het
Krt35 T C 11: 99,986,609 (GRCm39) Q135R probably benign Het
Lhfpl2 T A 13: 94,310,733 (GRCm39) M1K probably null Het
Lipk T A 19: 33,999,101 (GRCm39) L132Q probably damaging Het
Lrrc39 T A 3: 116,359,475 (GRCm39) C7S probably benign Het
Ltb4r2 T A 14: 56,000,089 (GRCm39) W237R probably damaging Het
Mesp2 A G 7: 79,461,034 (GRCm39) I120V probably damaging Het
Mfsd6 A G 1: 52,699,835 (GRCm39) V771A unknown Het
Mtfmt A T 9: 65,351,181 (GRCm39) T243S possibly damaging Het
Nlrp12 A T 7: 3,288,993 (GRCm39) C506* probably null Het
Ntng2 T A 2: 29,137,997 (GRCm39) Y19F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
P4hb A T 11: 120,463,551 (GRCm39) V28D probably damaging Het
Phkb T G 8: 86,684,216 (GRCm39) S424R probably benign Het
Poldip2 T C 11: 78,411,988 (GRCm39) L308S probably damaging Het
Prkd1 T A 12: 50,435,283 (GRCm39) E481D probably benign Het
Serping1 C T 2: 84,600,487 (GRCm39) S285N probably benign Het
Sh2d2a A C 3: 87,759,638 (GRCm39) I350L probably benign Het
Siglecf G T 7: 43,001,666 (GRCm39) V159L possibly damaging Het
Sspo A G 6: 48,470,820 (GRCm39) N36S probably damaging Het
Sytl2 C T 7: 90,020,718 (GRCm39) T147M possibly damaging Het
Tmc7 A G 7: 118,141,226 (GRCm39) F635S probably benign Het
Tmco1 C T 1: 167,157,757 (GRCm39) L175F Het
Ttc39d A G 17: 80,524,139 (GRCm39) H266R probably benign Het
Usp33 T G 3: 152,079,086 (GRCm39) I446R possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zbtb49 T A 5: 38,358,409 (GRCm39) T615S possibly damaging Het
Zbtb8a G T 4: 129,253,875 (GRCm39) H206Q probably benign Het
Zfp345 A T 2: 150,315,212 (GRCm39) C108* probably null Het
Zfp420 T A 7: 29,575,497 (GRCm39) H572Q probably benign Het
Zfp423 A G 8: 88,631,115 (GRCm39) probably null Het
Zfp820 T A 17: 22,037,994 (GRCm39) T445S possibly damaging Het
Zim1 T C 7: 6,681,050 (GRCm39) I204M probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Zfp180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Zfp180 APN 7 23,784,894 (GRCm39) missense probably damaging 0.98
IGL00990:Zfp180 APN 7 23,803,841 (GRCm39) missense possibly damaging 0.83
IGL00990:Zfp180 APN 7 23,804,255 (GRCm39) missense probably benign 0.42
IGL00990:Zfp180 APN 7 23,804,420 (GRCm39) missense possibly damaging 0.60
IGL01061:Zfp180 APN 7 23,804,170 (GRCm39) missense possibly damaging 0.50
IGL01328:Zfp180 APN 7 23,800,904 (GRCm39) missense probably benign 0.01
IGL03134:Zfp180 UTSW 7 23,804,170 (GRCm39) missense possibly damaging 0.50
R0137:Zfp180 UTSW 7 23,805,158 (GRCm39) missense possibly damaging 0.93
R0390:Zfp180 UTSW 7 23,804,132 (GRCm39) missense possibly damaging 0.95
R1451:Zfp180 UTSW 7 23,804,643 (GRCm39) missense probably benign 0.00
R1534:Zfp180 UTSW 7 23,800,948 (GRCm39) missense probably benign 0.31
R1555:Zfp180 UTSW 7 23,800,999 (GRCm39) intron probably benign
R1577:Zfp180 UTSW 7 23,805,333 (GRCm39) missense probably damaging 1.00
R1605:Zfp180 UTSW 7 23,804,049 (GRCm39) missense probably benign 0.00
R1633:Zfp180 UTSW 7 23,804,226 (GRCm39) missense probably benign 0.07
R1817:Zfp180 UTSW 7 23,804,652 (GRCm39) missense probably damaging 1.00
R2012:Zfp180 UTSW 7 23,803,943 (GRCm39) missense probably benign 0.01
R2076:Zfp180 UTSW 7 23,804,528 (GRCm39) missense probably damaging 1.00
R2151:Zfp180 UTSW 7 23,804,685 (GRCm39) missense probably damaging 1.00
R2262:Zfp180 UTSW 7 23,804,049 (GRCm39) missense probably benign 0.32
R3081:Zfp180 UTSW 7 23,804,928 (GRCm39) missense probably damaging 1.00
R3402:Zfp180 UTSW 7 23,805,170 (GRCm39) missense probably benign 0.30
R4551:Zfp180 UTSW 7 23,803,998 (GRCm39) missense possibly damaging 0.87
R4747:Zfp180 UTSW 7 23,805,246 (GRCm39) missense probably damaging 1.00
R4983:Zfp180 UTSW 7 23,805,503 (GRCm39) missense probably damaging 0.98
R5610:Zfp180 UTSW 7 23,804,315 (GRCm39) missense probably benign 0.00
R5764:Zfp180 UTSW 7 23,800,909 (GRCm39) missense possibly damaging 0.71
R5987:Zfp180 UTSW 7 23,804,859 (GRCm39) missense probably damaging 1.00
R6207:Zfp180 UTSW 7 23,804,510 (GRCm39) nonsense probably null
R6247:Zfp180 UTSW 7 23,804,530 (GRCm39) missense probably damaging 1.00
R6328:Zfp180 UTSW 7 23,804,981 (GRCm39) missense probably damaging 1.00
R6708:Zfp180 UTSW 7 23,805,521 (GRCm39) missense probably damaging 0.98
R6814:Zfp180 UTSW 7 23,805,306 (GRCm39) missense probably damaging 1.00
R6872:Zfp180 UTSW 7 23,805,306 (GRCm39) missense probably damaging 1.00
R7006:Zfp180 UTSW 7 23,804,537 (GRCm39) nonsense probably null
R7084:Zfp180 UTSW 7 23,804,686 (GRCm39) missense probably damaging 1.00
R7101:Zfp180 UTSW 7 23,803,958 (GRCm39) missense probably benign 0.00
R7213:Zfp180 UTSW 7 23,803,938 (GRCm39) missense possibly damaging 0.87
R7263:Zfp180 UTSW 7 23,805,125 (GRCm39) nonsense probably null
R7360:Zfp180 UTSW 7 23,804,915 (GRCm39) missense probably damaging 1.00
R7487:Zfp180 UTSW 7 23,805,525 (GRCm39) missense probably damaging 1.00
R7766:Zfp180 UTSW 7 23,804,084 (GRCm39) missense probably benign 0.37
R7816:Zfp180 UTSW 7 23,804,570 (GRCm39) missense probably damaging 1.00
R8086:Zfp180 UTSW 7 23,805,535 (GRCm39) missense probably benign
R8359:Zfp180 UTSW 7 23,804,337 (GRCm39) missense probably benign
R8747:Zfp180 UTSW 7 23,804,687 (GRCm39) missense possibly damaging 0.54
R8768:Zfp180 UTSW 7 23,805,161 (GRCm39) missense probably damaging 1.00
R8967:Zfp180 UTSW 7 23,804,726 (GRCm39) missense probably damaging 1.00
R9045:Zfp180 UTSW 7 23,804,315 (GRCm39) missense probably benign 0.01
R9460:Zfp180 UTSW 7 23,804,399 (GRCm39) missense probably damaging 1.00
V5622:Zfp180 UTSW 7 23,781,456 (GRCm39) start gained probably benign
X0067:Zfp180 UTSW 7 23,804,897 (GRCm39) missense probably damaging 1.00
Z1177:Zfp180 UTSW 7 23,805,296 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCAACAGGAGCTTCTTG -3'
(R):5'- TTTGTAGCTCTGGCGGAAC -3'

Sequencing Primer
(F):5'- AGCTTCTTGTTAAAGAGGGCCAG -3'
(R):5'- GGAACGACTTCCCACACTGG -3'
Posted On 2022-07-18