Incidental Mutation 'R6207:Zfp180'
ID |
503190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp180
|
Ensembl Gene |
ENSMUSG00000057101 |
Gene Name |
zinc finger protein 180 |
Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
MMRRC Submission |
044341-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.582)
|
Stock # |
R6207 (G1)
|
Quality Score |
204.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 23804510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 310
(R310*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068975]
[ENSMUST00000203854]
[ENSMUST00000206184]
[ENSMUST00000207002]
|
AlphaFold |
Q6NZI9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068975
AA Change: R310*
|
SMART Domains |
Protein: ENSMUSP00000064611 Gene: ENSMUSG00000057101 AA Change: R310*
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
G |
A |
7: 126,430,065 (GRCm39) |
P69S |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,973,017 (GRCm39) |
R864G |
probably benign |
Het |
Acbd5 |
T |
C |
2: 22,959,490 (GRCm39) |
C15R |
possibly damaging |
Het |
Ahctf1 |
A |
T |
1: 179,604,955 (GRCm39) |
|
probably null |
Het |
Ak3 |
T |
A |
19: 29,000,340 (GRCm39) |
K190N |
probably damaging |
Het |
B4galnt3 |
A |
T |
6: 120,183,575 (GRCm39) |
|
probably null |
Het |
Calcrl |
T |
C |
2: 84,163,874 (GRCm39) |
H439R |
probably benign |
Het |
Casp7 |
T |
A |
19: 56,429,452 (GRCm39) |
D279E |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,857,186 (GRCm39) |
V337A |
probably benign |
Het |
Cep85l |
T |
C |
10: 53,157,651 (GRCm39) |
Y684C |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Homo |
Commd7 |
T |
C |
2: 153,474,530 (GRCm39) |
N23S |
possibly damaging |
Het |
Cpne9 |
A |
T |
6: 113,271,734 (GRCm39) |
I365F |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,622,277 (GRCm39) |
A831V |
probably benign |
Het |
Entrep1 |
T |
C |
19: 23,950,802 (GRCm39) |
E593G |
probably damaging |
Het |
Epcam |
C |
A |
17: 87,947,864 (GRCm39) |
N111K |
probably damaging |
Het |
Etnk1 |
A |
G |
6: 143,126,524 (GRCm39) |
Q123R |
probably damaging |
Het |
Fam170a |
A |
T |
18: 50,415,017 (GRCm39) |
E221V |
probably damaging |
Het |
Fbl |
T |
C |
7: 27,874,278 (GRCm39) |
S88P |
possibly damaging |
Het |
Fbxo36 |
T |
A |
1: 84,874,251 (GRCm39) |
Y82* |
probably null |
Het |
Fer1l5 |
A |
G |
1: 36,424,241 (GRCm39) |
K285R |
probably damaging |
Het |
Foxn3 |
G |
T |
12: 99,162,569 (GRCm39) |
T444K |
probably damaging |
Het |
Gak |
C |
T |
5: 108,772,895 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,502,931 (GRCm39) |
I311V |
probably benign |
Het |
Hrg |
T |
C |
16: 22,773,288 (GRCm39) |
|
probably null |
Het |
Htatip2 |
G |
A |
7: 49,420,567 (GRCm39) |
V138I |
probably benign |
Het |
Ighv1-4 |
A |
T |
12: 114,451,142 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,755,026 (GRCm39) |
M174V |
possibly damaging |
Het |
Krt39 |
G |
T |
11: 99,412,041 (GRCm39) |
P15Q |
probably damaging |
Het |
L1td1 |
G |
A |
4: 98,625,655 (GRCm39) |
D617N |
possibly damaging |
Het |
Lgalsl |
T |
A |
11: 20,779,382 (GRCm39) |
K88* |
probably null |
Het |
Lims1 |
A |
T |
10: 58,230,386 (GRCm39) |
K49M |
possibly damaging |
Het |
Man2a1 |
T |
C |
17: 65,020,600 (GRCm39) |
V792A |
probably benign |
Het |
Mcm2 |
G |
T |
6: 88,862,844 (GRCm39) |
D749E |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
Myb |
A |
G |
10: 21,021,221 (GRCm39) |
S403P |
probably benign |
Het |
Nek6 |
T |
C |
2: 38,447,846 (GRCm39) |
S37P |
possibly damaging |
Het |
Or10d1b |
T |
C |
9: 39,613,606 (GRCm39) |
H153R |
probably benign |
Het |
Or14c46 |
A |
C |
7: 85,918,968 (GRCm39) |
F10V |
probably damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,209 (GRCm39) |
V46A |
probably benign |
Het |
Or56b2j |
G |
A |
7: 104,352,818 (GRCm39) |
V15M |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,095,480 (GRCm39) |
I328N |
probably damaging |
Het |
Psap |
T |
A |
10: 60,136,317 (GRCm39) |
C484S |
probably damaging |
Het |
Pus1 |
T |
C |
5: 110,925,580 (GRCm39) |
D80G |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,251 (GRCm39) |
T138A |
possibly damaging |
Het |
Scaf1 |
G |
T |
7: 44,657,047 (GRCm39) |
|
probably benign |
Het |
Skap1 |
T |
A |
11: 96,594,959 (GRCm39) |
Y143* |
probably null |
Het |
Slc22a20 |
A |
G |
19: 6,035,969 (GRCm39) |
L67P |
probably damaging |
Het |
Slc25a17 |
T |
C |
15: 81,213,265 (GRCm39) |
Y146C |
probably damaging |
Het |
Slfn4 |
C |
T |
11: 83,079,951 (GRCm39) |
T154I |
possibly damaging |
Het |
Snai1 |
T |
A |
2: 167,380,229 (GRCm39) |
V7D |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,052,655 (GRCm39) |
M84K |
probably benign |
Het |
Spop |
G |
T |
11: 95,362,063 (GRCm39) |
K31N |
possibly damaging |
Het |
Surf1 |
T |
C |
2: 26,804,819 (GRCm39) |
T145A |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,037,165 (GRCm39) |
E278G |
probably damaging |
Het |
Thumpd2 |
G |
A |
17: 81,363,266 (GRCm39) |
A67V |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,706,353 (GRCm39) |
M52L |
probably damaging |
Het |
Trav16 |
A |
T |
14: 53,981,045 (GRCm39) |
N78I |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,799,907 (GRCm39) |
T147A |
probably damaging |
Het |
Tulp1 |
A |
T |
17: 28,577,651 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,797,915 (GRCm39) |
N527K |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,148,559 (GRCm39) |
C1681Y |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,665,910 (GRCm39) |
K1037E |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,313,926 (GRCm39) |
H352Y |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,909,616 (GRCm39) |
H47L |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,633,968 (GRCm39) |
E57G |
probably damaging |
Het |
Zfp672 |
T |
C |
11: 58,208,349 (GRCm39) |
|
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 |
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'- TGCGCCCCGAAATCTAAATGAG -3'
(R):5'- GTTTGTAGCTCTGGCGGAAC -3'
Sequencing Primer
(F):5'- GCCCCGAAATCTAAATGAGAAAGTTC -3'
(R):5'- GTGAGTTCTCTGATGCACCACAAG -3'
|
Posted On |
2018-02-27 |