Incidental Mutation 'R1534:Zfp180'
ID 166820
Institutional Source Beutler Lab
Gene Symbol Zfp180
Ensembl Gene ENSMUSG00000057101
Gene Name zinc finger protein 180
Synonyms HHZ168, D130011P11, 2310040I01Rik
MMRRC Submission 039573-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.582) question?
Stock # R1534 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 23781349-23807138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23800948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 66 (N66I)
Ref Sequence ENSEMBL: ENSMUSP00000145165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]
AlphaFold Q6NZI9
Predicted Effect probably benign
Transcript: ENSMUST00000068975
AA Change: T68S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: T68S

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
AA Change: N66I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101
AA Change: N66I

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 noncoding transcript
Transcript: ENSMUST00000206482
Predicted Effect probably benign
Transcript: ENSMUST00000207002
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,345,881 (GRCm39) I310T probably damaging Het
Adcy5 T C 16: 35,073,629 (GRCm39) V469A possibly damaging Het
Agrn C T 4: 156,261,141 (GRCm39) C652Y probably damaging Het
Ankfn1 C T 11: 89,413,977 (GRCm39) V133M probably damaging Het
Ankrd13c A G 3: 157,706,757 (GRCm39) T448A probably benign Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
B4galt2 T C 4: 117,734,669 (GRCm39) H233R probably damaging Het
Bpifb5 T G 2: 154,071,419 (GRCm39) Y249D possibly damaging Het
Brd1 T C 15: 88,573,866 (GRCm39) I1078V possibly damaging Het
Celsr3 A G 9: 108,726,083 (GRCm39) E3104G probably damaging Het
Cyp2c69 T A 19: 39,839,593 (GRCm39) K343N probably benign Het
Cyp4f18 T A 8: 72,746,799 (GRCm39) D331V probably damaging Het
D130040H23Rik T C 8: 69,755,378 (GRCm39) V261A possibly damaging Het
Dchs1 T C 7: 105,421,247 (GRCm39) D391G probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Fat4 T C 3: 38,944,238 (GRCm39) F1044L probably damaging Het
Frrs1 A T 3: 116,672,057 (GRCm39) T52S probably benign Het
Gan G A 8: 117,914,168 (GRCm39) V189I probably benign Het
Hnf1b A G 11: 83,784,409 (GRCm39) probably benign Het
Itgae T C 11: 73,036,431 (GRCm39) I1123T possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lrrc18 A G 14: 32,730,478 (GRCm39) K6E possibly damaging Het
Map2 G A 1: 66,452,339 (GRCm39) V492I probably benign Het
Mtr A T 13: 12,250,430 (GRCm39) probably benign Het
Ncor1 G T 11: 62,269,330 (GRCm39) A689E possibly damaging Het
Or52n2c G A 7: 104,574,621 (GRCm39) L117F possibly damaging Het
Or5w22 T A 2: 87,363,016 (GRCm39) V213D probably damaging Het
Palm T G 10: 79,652,737 (GRCm39) V42G probably damaging Het
Pcm1 G A 8: 41,740,738 (GRCm39) V995I probably benign Het
Pfkp A G 13: 6,669,574 (GRCm39) V215A probably damaging Het
Prkg2 T C 5: 99,142,420 (GRCm39) Y238C probably damaging Het
Prr14 C T 7: 127,073,154 (GRCm39) A167V probably benign Het
Ptprn A C 1: 75,234,587 (GRCm39) probably null Het
Rexo2 A T 9: 48,380,190 (GRCm39) I214N probably damaging Het
Rrbp1 A G 2: 143,830,233 (GRCm39) S645P probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Satb2 A T 1: 56,987,392 (GRCm39) C64* probably null Het
Sez6 A G 11: 77,853,871 (GRCm39) Y347C probably damaging Het
Sos2 A G 12: 69,663,729 (GRCm39) I585T probably damaging Het
Spg11 G A 2: 121,922,806 (GRCm39) T881M probably damaging Het
Tiam1 A T 16: 89,664,396 (GRCm39) probably null Het
Tlcd5 A G 9: 43,022,923 (GRCm39) W126R probably damaging Het
Top1 T C 2: 160,556,152 (GRCm39) I537T probably damaging Het
Trappc6a A G 7: 19,248,138 (GRCm39) S33G probably benign Het
Tspan11 G C 6: 127,926,768 (GRCm39) V239L probably benign Het
Ubr4 T C 4: 139,155,462 (GRCm39) V2190A possibly damaging Het
Usp28 A G 9: 48,896,806 (GRCm39) D9G possibly damaging Het
Uty A G Y: 1,245,440 (GRCm39) V35A probably benign Het
Vmn2r56 A G 7: 12,427,954 (GRCm39) S771P probably benign Het
Wars2 C T 3: 99,124,177 (GRCm39) A346V probably damaging Het
Wdr87-ps G T 7: 29,229,854 (GRCm39) noncoding transcript Het
Zfp142 G T 1: 74,611,247 (GRCm39) N849K 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
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
R9480:Zfp180 UTSW 7 23,804,628 (GRCm39) missense probably benign 0.20
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'- GATGCTTTGGAGGCAGATGGTCTAC -3'
(R):5'- AGGCTGCTAAGTTTCCCCATGTTC -3'

Sequencing Primer
(F):5'- GGCAGATGGTCTACTACTGTAAC -3'
(R):5'- AGGTCTGTTCTGAGAATACCAG -3'
Posted On 2014-04-13