Incidental Mutation 'R5764:Zfp180'
ID 446174
Institutional Source Beutler Lab
Gene Symbol Zfp180
Ensembl Gene ENSMUSG00000057101
Gene Name zinc finger protein 180
Synonyms HHZ168, D130011P11, 2310040I01Rik
MMRRC Submission 043365-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.582) question?
Stock # R5764 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 23781349-23807138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23800909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000145165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]
AlphaFold Q6NZI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000068975
AA Change: T55A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: T55A

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 possibly damaging
Transcript: ENSMUST00000203854
AA Change: Y53C

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101
AA Change: Y53C

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (53/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Arap2 T C 5: 62,800,197 (GRCm39) T1277A probably damaging Het
Cep85l A T 10: 53,225,090 (GRCm39) D166E probably benign Het
Cope T C 8: 70,759,231 (GRCm39) S125P probably damaging Het
Dzip3 A G 16: 48,747,724 (GRCm39) probably benign Het
Endou G A 15: 97,612,488 (GRCm39) R253C probably damaging Het
Entpd1 A T 19: 40,727,417 (GRCm39) probably null Het
Fhip1a A G 3: 85,573,172 (GRCm39) Y926H probably damaging Het
Grk3 A G 5: 113,114,776 (GRCm39) probably null Het
Hba-a2 T A 11: 32,247,156 (GRCm39) probably null Het
Hecw1 C T 13: 14,497,094 (GRCm39) V305I probably damaging Het
Hspg2 C A 4: 137,289,032 (GRCm39) T3735K probably damaging Het
Htr4 G A 18: 62,570,613 (GRCm39) A223T probably damaging Het
Iglv1 T C 16: 18,904,190 (GRCm39) I7M unknown Het
Jag1 C T 2: 136,931,167 (GRCm39) C655Y probably damaging Het
Jmjd1c C T 10: 67,062,291 (GRCm39) T1548I probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Klra6 T A 6: 129,999,692 (GRCm39) Q92L possibly damaging Het
Lrp1 T C 10: 127,431,187 (GRCm39) N325S probably benign Het
Ly75 C T 2: 60,148,783 (GRCm39) R1182H probably benign Het
Map2 T C 1: 66,454,034 (GRCm39) S975P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mpdz A G 4: 81,274,683 (GRCm39) F180L probably benign Het
Myadm G A 7: 3,345,768 (GRCm39) V177I possibly damaging Het
Ngly1 T A 14: 16,260,799 (GRCm38) M161K probably benign Het
Nup153 A G 13: 46,840,803 (GRCm39) M255T probably damaging Het
Pgm1 C T 4: 99,822,043 (GRCm39) A303V probably damaging Het
Pgr A T 9: 8,900,538 (GRCm39) I24F probably benign Het
Pigq A T 17: 26,151,093 (GRCm39) I412N probably damaging Het
Plod2 A G 9: 92,485,074 (GRCm39) H525R probably damaging Het
Polq T G 16: 36,837,706 (GRCm39) M206R probably damaging Het
Psap T A 10: 60,129,186 (GRCm39) S100T probably benign Het
Psme4 G A 11: 30,722,364 (GRCm39) probably benign Het
Serpina1d T A 12: 103,732,080 (GRCm39) M260L probably benign Het
Serpinf2 A G 11: 75,328,230 (GRCm39) L106P possibly damaging Het
Sumf1 C T 6: 108,095,424 (GRCm39) probably benign Het
Tcp1 A G 17: 13,135,489 (GRCm39) T13A probably benign Het
Tfap2a A C 13: 40,881,831 (GRCm39) I185S possibly damaging Het
Tlr2 A C 3: 83,745,819 (GRCm39) I88S probably damaging Het
Tmc4 A T 7: 3,675,022 (GRCm39) F283L probably damaging Het
Tox4 T C 14: 52,523,277 (GRCm39) V79A probably damaging Het
Trim10 A T 17: 37,181,073 (GRCm39) E101D probably damaging Het
Troap T A 15: 98,973,300 (GRCm39) I22N probably damaging Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Utp4 T G 8: 107,644,248 (GRCm39) V529G possibly damaging Het
Zeb2 T C 2: 44,886,931 (GRCm39) M664V possibly damaging 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
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'- TGGCATCTGAAGCTCAGCAG -3'
(R):5'- GCTATGGTGTGTTCCTGAGCAC -3'

Sequencing Primer
(F):5'- AGCAGTGCTGTTGACCCTG -3'
(R):5'- TGTGTTCCTGAGCACACAAAAC -3'
Posted On 2016-11-21