Incidental Mutation 'R1817:Zfp180'
ID 204497
Institutional Source Beutler Lab
Gene Symbol Zfp180
Ensembl Gene ENSMUSG00000057101
Gene Name zinc finger protein 180
Synonyms HHZ168, D130011P11, 2310040I01Rik
MMRRC Submission 039845-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.582) question?
Stock # R1817 (G1)
Quality Score 108
Status Validated
Chromosome 7
Chromosomal Location 23781349-23807138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23804652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 357 (R357Q)
Ref Sequence ENSEMBL: ENSMUSP00000064611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]
AlphaFold Q6NZI9
Predicted Effect probably damaging
Transcript: ENSMUST00000068975
AA Change: R357Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: R357Q

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 noncoding transcript
Transcript: ENSMUST00000206482
Predicted Effect probably benign
Transcript: ENSMUST00000207002
Meta Mutation Damage Score 0.1203 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency 95% (90/95)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,144 (GRCm39) S600T probably benign Het
Acly T A 11: 100,386,717 (GRCm39) Q615L probably benign Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afg3l1 G T 8: 124,228,670 (GRCm39) K745N probably damaging Het
Armc8 T C 9: 99,418,312 (GRCm39) T39A possibly damaging Het
Atm C A 9: 53,403,533 (GRCm39) probably benign Het
Babam2 A G 5: 32,214,890 (GRCm39) T324A probably damaging Het
Btd C A 14: 31,384,246 (GRCm39) D77E possibly damaging Het
Cadm1 T A 9: 47,740,668 (GRCm39) probably benign Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccni G T 5: 93,335,967 (GRCm39) T144K possibly damaging Het
Ceacam23 C T 7: 17,607,255 (GRCm39) noncoding transcript Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cgas A G 9: 78,341,593 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,803 (GRCm39) F296L possibly damaging Het
Cyfip1 C A 7: 55,523,196 (GRCm39) N70K possibly damaging Het
Cyp4a12b A G 4: 115,271,259 (GRCm39) probably benign Het
Ddx20 A T 3: 105,585,896 (GRCm39) Y816* probably null Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dgat1 T A 15: 76,386,703 (GRCm39) M445L probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dnmt1 T C 9: 20,838,422 (GRCm39) T215A probably benign Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Enox1 A G 14: 77,852,915 (GRCm39) I394V possibly damaging Het
Esrp2 A T 8: 106,861,250 (GRCm39) M183K probably damaging Het
Fam171a1 C T 2: 3,179,410 (GRCm39) P79S probably benign Het
Fga A G 3: 82,939,082 (GRCm39) T486A probably benign Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Fnip1 A G 11: 54,393,279 (GRCm39) T572A probably benign Het
Fxn A C 19: 24,257,765 (GRCm39) probably null Het
Gaa C T 11: 119,175,324 (GRCm39) Q901* probably null Het
Gabrg1 A G 5: 70,911,594 (GRCm39) M344T probably benign Het
Galnt7 C T 8: 57,991,212 (GRCm39) V433M probably damaging Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Hydin A C 8: 111,259,459 (GRCm39) D2477A probably benign Het
Igsf6 T C 7: 120,670,031 (GRCm39) Y37C probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kif3a T C 11: 53,489,561 (GRCm39) Y138H probably damaging Het
Klra17 A G 6: 129,845,681 (GRCm39) probably null Het
Lcorl A T 5: 45,952,688 (GRCm39) I55N probably damaging Het
Lrrc49 A G 9: 60,510,059 (GRCm39) S398P possibly damaging Het
Ltv1 A G 10: 13,055,018 (GRCm39) L384S probably damaging Het
Mageb3 A T 2: 121,784,918 (GRCm39) Y261* probably null Het
Mical3 T G 6: 121,019,196 (GRCm39) T9P probably benign Het
Myrip C T 9: 120,217,228 (GRCm39) S49L probably damaging Het
Nrap T C 19: 56,372,487 (GRCm39) probably benign Het
Or2m12 T C 16: 19,104,627 (GRCm39) N289D probably damaging Het
Or4k5 A G 14: 50,385,728 (GRCm39) V201A probably benign Het
Otoa A T 7: 120,759,753 (GRCm39) probably benign Het
Pals2 T G 6: 50,140,411 (GRCm39) F144V probably benign Het
Parp11 T A 6: 127,467,008 (GRCm39) I133N probably damaging Het
Pcnx1 A G 12: 81,965,416 (GRCm39) T528A probably benign Het
Pde4c A G 8: 71,179,638 (GRCm39) H63R probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Pdzd7 A T 19: 45,024,615 (GRCm39) M468K probably damaging Het
Perm1 C A 4: 156,303,061 (GRCm39) P535Q possibly damaging Het
Pgap1 C A 1: 54,575,128 (GRCm39) A265S probably benign Het
Pik3c2a A T 7: 115,975,747 (GRCm39) probably null Het
Plxnd1 T C 6: 115,957,562 (GRCm39) T491A possibly damaging Het
Pms1 A T 1: 53,246,128 (GRCm39) D470E probably benign Het
Prf1 C A 10: 61,138,762 (GRCm39) T240N probably damaging Het
Prune2 A G 19: 17,099,445 (GRCm39) T1650A probably benign Het
Ptprf A G 4: 118,080,462 (GRCm39) L1264P probably benign Het
Ptprs A G 17: 56,726,527 (GRCm39) S948P probably damaging Het
Rapgef1 T C 2: 29,576,268 (GRCm39) V117A probably damaging Het
Rnf123 A G 9: 107,940,125 (GRCm39) V756A probably benign Het
Sez6l2 A G 7: 126,566,291 (GRCm39) E741G probably damaging Het
Shc3 A T 13: 51,626,888 (GRCm39) I125K possibly damaging Het
Smr3a A T 5: 88,155,917 (GRCm39) probably benign Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
St6gal1 A T 16: 23,140,083 (GRCm39) K85* probably null Het
Taf1b T G 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tcp10b C T 17: 13,286,590 (GRCm39) P180S possibly damaging Het
Tlr9 A T 9: 106,102,142 (GRCm39) M478L probably benign Het
Tpr A T 1: 150,295,654 (GRCm39) E892D probably damaging Het
Trio C T 15: 27,742,581 (GRCm39) W22* probably null Het
Usp14 A G 18: 10,024,673 (GRCm39) V8A probably damaging Het
Vmn2r19 A T 6: 123,307,011 (GRCm39) K506N possibly damaging Het
Vmn2r45 T A 7: 8,475,372 (GRCm39) N552I probably damaging Het
Vmn2r56 A T 7: 12,449,542 (GRCm39) M232K probably benign Het
Vps13b T A 15: 35,910,788 (GRCm39) F3517L possibly damaging Het
Yif1a C T 19: 5,142,333 (GRCm39) R247* probably null Het
Zbtb5 A G 4: 44,993,767 (GRCm39) V539A probably benign Het
Zfp536 A G 7: 37,268,042 (GRCm39) L458P probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp970 C T 2: 177,167,976 (GRCm39) H517Y probably damaging Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null 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
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'- TGGGCAACAGGAGCTTCTTG -3'
(R):5'- AGTTTGTAGCTCTGGCGGAAC -3'

Sequencing Primer
(F):5'- AGCTTCTTGTTAAAGAGGGCCAG -3'
(R):5'- GGAACGACTTCCCACACTGG -3'
Posted On 2014-06-23