Incidental Mutation 'R6328:Zfp180'
ID |
510805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp180
|
Ensembl Gene |
ENSMUSG00000057101 |
Gene Name |
zinc finger protein 180 |
Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
MMRRC Submission |
044482-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.582)
|
Stock # |
R6328 (G1)
|
Quality Score |
164.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23804981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 467
(F467L)
|
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: F467L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064611 Gene: ENSMUSG00000057101 AA Change: F467L
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
0.4245 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (57/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Abcb10 |
G |
A |
8: 124,688,756 (GRCm39) |
R507W |
probably damaging |
Het |
Actg1 |
T |
C |
11: 120,238,586 (GRCm39) |
D80G |
possibly damaging |
Het |
Actr5 |
A |
G |
2: 158,477,264 (GRCm39) |
D405G |
possibly damaging |
Het |
Ahnak |
C |
T |
19: 8,984,512 (GRCm39) |
T1932I |
probably benign |
Het |
Ankk1 |
T |
A |
9: 49,327,371 (GRCm39) |
T603S |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,155,053 (GRCm39) |
F964I |
probably damaging |
Het |
Atp6v1g3 |
A |
G |
1: 138,215,570 (GRCm39) |
T77A |
probably benign |
Het |
Bccip |
A |
G |
7: 133,319,503 (GRCm39) |
H198R |
probably damaging |
Het |
Bsx |
A |
T |
9: 40,785,519 (GRCm39) |
R16W |
probably damaging |
Het |
Ccdc88b |
C |
T |
19: 6,826,406 (GRCm39) |
R1103Q |
probably damaging |
Het |
Cd59a |
A |
C |
2: 103,941,103 (GRCm39) |
Y27S |
probably damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,413 (GRCm39) |
H162R |
probably damaging |
Het |
Col6a2 |
C |
T |
10: 76,450,212 (GRCm39) |
E240K |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,814,634 (GRCm39) |
V603A |
possibly damaging |
Het |
Dgkz |
A |
G |
2: 91,772,980 (GRCm39) |
V359A |
probably benign |
Het |
Dis3l2 |
T |
A |
1: 86,782,153 (GRCm39) |
S223T |
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,679,734 (GRCm39) |
S535G |
probably benign |
Het |
Dsp |
A |
T |
13: 38,380,982 (GRCm39) |
K1977* |
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,165,717 (GRCm39) |
S515T |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,072,179 (GRCm39) |
E2397G |
possibly damaging |
Het |
Fam83d |
G |
A |
2: 158,627,096 (GRCm39) |
G262S |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,595,509 (GRCm39) |
T477S |
probably damaging |
Het |
Gbp3 |
A |
G |
3: 142,274,819 (GRCm39) |
E382G |
probably benign |
Het |
Gltp |
A |
T |
5: 114,808,572 (GRCm39) |
C157S |
possibly damaging |
Het |
Grb10 |
A |
G |
11: 11,887,905 (GRCm39) |
S378P |
probably damaging |
Het |
Gulo |
G |
T |
14: 66,240,080 (GRCm39) |
T126K |
probably damaging |
Het |
H2-M10.6 |
T |
A |
17: 37,124,836 (GRCm39) |
M251K |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,422,205 (GRCm39) |
D967G |
possibly damaging |
Het |
Htr3b |
A |
T |
9: 48,858,933 (GRCm39) |
D68E |
probably damaging |
Het |
Igkv5-39 |
G |
T |
6: 69,877,489 (GRCm39) |
S89* |
probably null |
Het |
Kctd4 |
C |
A |
14: 76,200,037 (GRCm39) |
|
probably benign |
Het |
Lmna |
T |
C |
3: 88,393,813 (GRCm39) |
Q255R |
probably damaging |
Het |
Lsmem1 |
A |
G |
12: 40,230,656 (GRCm39) |
I82T |
possibly damaging |
Het |
Lyg2 |
T |
A |
1: 37,950,194 (GRCm39) |
M45L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Nudt5 |
A |
T |
2: 5,869,248 (GRCm39) |
K158I |
possibly damaging |
Het |
Nufip1 |
C |
T |
14: 76,348,494 (GRCm39) |
P41L |
possibly damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,739 (GRCm39) |
W21R |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,073 (GRCm39) |
E183D |
probably damaging |
Het |
Pcp2 |
T |
C |
8: 3,674,887 (GRCm39) |
D22G |
probably damaging |
Het |
Pdk2 |
G |
C |
11: 94,930,228 (GRCm39) |
N69K |
possibly damaging |
Het |
Pdlim7 |
G |
T |
13: 55,655,905 (GRCm39) |
|
probably benign |
Het |
Ptprc |
C |
A |
1: 138,041,416 (GRCm39) |
E148* |
probably null |
Het |
Rassf5 |
A |
T |
1: 131,108,405 (GRCm39) |
V225E |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,664,458 (GRCm39) |
M725K |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,103,660 (GRCm39) |
I1867F |
probably damaging |
Het |
Sdk2 |
T |
A |
11: 113,684,581 (GRCm39) |
Q1960L |
probably damaging |
Het |
Setx |
A |
G |
2: 29,064,474 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
A |
8: 64,381,345 (GRCm39) |
R496* |
probably null |
Het |
Slco1a1 |
C |
T |
6: 141,878,176 (GRCm39) |
V222I |
probably damaging |
Het |
Sntg2 |
A |
C |
12: 30,308,013 (GRCm39) |
L224R |
probably damaging |
Het |
Syt16 |
C |
A |
12: 74,313,467 (GRCm39) |
C464* |
probably null |
Het |
Tapbpl |
T |
A |
6: 125,201,881 (GRCm39) |
S420C |
probably benign |
Het |
Tax1bp1 |
A |
G |
6: 52,723,694 (GRCm39) |
E528G |
probably benign |
Het |
Tmem168 |
T |
C |
6: 13,602,710 (GRCm39) |
T219A |
probably benign |
Het |
|
Other mutations in Zfp180 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GTTCCGCCAGAGCTACAAAC -3'
(R):5'- AGCTCTGACTGAAGGATTTCCC -3'
Sequencing Primer
(F):5'- GCCAGAGCTACAAACTCATCG -3'
(R):5'- TGACTGAAGGATTTCCCGCACTG -3'
|
Posted On |
2018-04-02 |