Incidental Mutation 'IGL00337:Zfp180'
ID5309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp180
Ensembl Gene ENSMUSG00000057101
Gene Namezinc finger protein 180
SynonymsHHZ168, 2310040I01Rik, D130011P11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL00337
Quality Score
Status
Chromosome7
Chromosomal Location24081924-24107713 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24085469 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
Ref Sequence ENSEMBL: ENSMUSP00000064611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]
Predicted Effect probably damaging
Transcript: ENSMUST00000068975
AA Change: D5G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: D5G

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 unknown
Transcript: ENSMUST00000203854
AA Change: D5G
SMART Domains Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101
AA Change: D5G

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 unknown
Transcript: ENSMUST00000206184
AA Change: D5G
Predicted Effect unknown
Transcript: ENSMUST00000207002
AA Change: D5G
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A C 3: 127,820,751 probably benign Het
Ap1ar A T 3: 127,820,752 probably benign Het
Apip A T 2: 103,091,912 T208S probably benign Het
Arhgap11a A G 2: 113,841,942 V227A probably damaging Het
Atrn G T 2: 130,958,079 V459F probably damaging Het
Cep295 T C 9: 15,326,072 probably null Het
Cfhr1 A G 1: 139,556,515 probably benign Het
D5Ertd615e A G 5: 45,163,427 noncoding transcript Het
Dhx29 A G 13: 112,964,603 I1227V probably benign Het
Fam98a T C 17: 75,551,747 D16G probably damaging Het
Frk A G 10: 34,484,243 D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 H354Q probably damaging Het
Ggps1 G A 13: 14,054,388 S70L probably damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpx T C 7: 105,591,770 Y432C probably damaging Het
Hyal2 T C 9: 107,572,172 C376R probably damaging Het
Il10rb G A 16: 91,406,339 A8T probably benign Het
Ing5 G T 1: 93,806,094 M1I probably null Het
Kcnc4 C T 3: 107,447,873 D420N probably benign Het
Kcnj8 T C 6: 142,570,235 N49D probably damaging Het
Kif26b C A 1: 178,915,648 A656D probably damaging Het
Klc4 T C 17: 46,635,435 E488G probably damaging Het
Mtmr4 C T 11: 87,611,924 H878Y probably benign Het
Ndufaf7 T C 17: 78,947,091 probably benign Het
Nlrp14 T G 7: 107,182,101 D168E possibly damaging Het
Ogdhl T C 14: 32,333,712 F251S probably damaging Het
Olfr59 T C 11: 74,289,387 V247A probably damaging Het
P2rx5 A T 11: 73,167,492 probably null Het
Parp14 G A 16: 35,841,075 T1501I probably benign Het
Prl3c1 C A 13: 27,200,763 T85K probably damaging Het
Psg27 A G 7: 18,561,804 Y239H probably damaging Het
Pzp T C 6: 128,516,909 R300G probably benign Het
Sec16a A G 2: 26,439,487 S839P probably benign Het
Sphkap T A 1: 83,339,608 D56V probably damaging Het
Srrt C T 5: 137,295,978 probably benign Het
Sstr3 T A 15: 78,540,467 T27S probably benign Het
Taf1d C A 9: 15,311,603 S255Y probably damaging Het
Tbc1d15 C A 10: 115,209,641 E473* probably null Het
Tmem247 T C 17: 86,917,535 V24A probably benign Het
Txnrd2 T C 16: 18,477,769 C494R probably damaging Het
Other mutations in Zfp180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Zfp180 APN 7 24104830 missense probably benign 0.42
IGL00990:Zfp180 APN 7 24104995 missense possibly damaging 0.60
IGL00990:Zfp180 APN 7 24104416 missense possibly damaging 0.83
IGL01061:Zfp180 APN 7 24104745 missense possibly damaging 0.50
IGL01328:Zfp180 APN 7 24101479 missense probably benign 0.01
IGL03134:Zfp180 UTSW 7 24104745 missense possibly damaging 0.50
R0137:Zfp180 UTSW 7 24105733 missense possibly damaging 0.93
R0390:Zfp180 UTSW 7 24104707 missense possibly damaging 0.95
R1451:Zfp180 UTSW 7 24105218 missense probably benign 0.00
R1534:Zfp180 UTSW 7 24101523 missense probably benign 0.31
R1555:Zfp180 UTSW 7 24101574 intron probably benign
R1577:Zfp180 UTSW 7 24105908 missense probably damaging 1.00
R1605:Zfp180 UTSW 7 24104624 missense probably benign 0.00
R1633:Zfp180 UTSW 7 24104801 missense probably benign 0.07
R1817:Zfp180 UTSW 7 24105227 missense probably damaging 1.00
R2012:Zfp180 UTSW 7 24104518 missense probably benign 0.01
R2076:Zfp180 UTSW 7 24105103 missense probably damaging 1.00
R2151:Zfp180 UTSW 7 24105260 missense probably damaging 1.00
R2262:Zfp180 UTSW 7 24104624 missense probably benign 0.32
R3081:Zfp180 UTSW 7 24105503 missense probably damaging 1.00
R3402:Zfp180 UTSW 7 24105745 missense probably benign 0.30
R4551:Zfp180 UTSW 7 24104573 missense possibly damaging 0.87
R4747:Zfp180 UTSW 7 24105821 missense probably damaging 1.00
R4983:Zfp180 UTSW 7 24106078 missense probably damaging 0.98
R5610:Zfp180 UTSW 7 24104890 missense probably benign 0.00
R5764:Zfp180 UTSW 7 24101484 missense possibly damaging 0.71
R5987:Zfp180 UTSW 7 24105434 missense probably damaging 1.00
R6207:Zfp180 UTSW 7 24105085 nonsense probably null
R6247:Zfp180 UTSW 7 24105105 missense probably damaging 1.00
R6328:Zfp180 UTSW 7 24105556 missense probably damaging 1.00
R6708:Zfp180 UTSW 7 24106096 missense probably damaging 0.98
R6814:Zfp180 UTSW 7 24105881 missense probably damaging 1.00
R6872:Zfp180 UTSW 7 24105881 missense probably damaging 1.00
R7006:Zfp180 UTSW 7 24105112 nonsense probably null
R7084:Zfp180 UTSW 7 24105261 missense probably damaging 1.00
R7101:Zfp180 UTSW 7 24104533 missense probably benign 0.00
R7213:Zfp180 UTSW 7 24104513 missense possibly damaging 0.87
R7263:Zfp180 UTSW 7 24105700 nonsense probably null
R7360:Zfp180 UTSW 7 24105490 missense probably damaging 1.00
R7487:Zfp180 UTSW 7 24106100 missense probably damaging 1.00
V5622:Zfp180 UTSW 7 24082031 start gained probably benign
X0067:Zfp180 UTSW 7 24105472 missense probably damaging 1.00
Posted On2012-04-20