Incidental Mutation 'R9045:Zfp180'
| ID |
687984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| MMRRC Submission |
068872-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.582)
|
| Stock # |
R9045 (G1)
|
| Quality Score |
110.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23804315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 245
(V245I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068975]
[ENSMUST00000203854]
[ENSMUST00000206184]
[ENSMUST00000207002]
|
| AlphaFold |
Q6NZI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068975
AA Change: V245I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: V245I
| 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 |
probably benign
Transcript: ENSMUST00000207002
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
C |
8: 33,919,362 (GRCm39) |
M61L |
|
Het |
| 9130401M01Rik |
G |
T |
15: 57,892,130 (GRCm39) |
A223E |
possibly damaging |
Het |
| Adgra1 |
T |
G |
7: 139,432,566 (GRCm39) |
L135V |
possibly damaging |
Het |
| Aida |
A |
G |
1: 183,094,940 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,968,034 (GRCm39) |
L557* |
probably null |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,272 (GRCm39) |
T221S |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,666,184 (GRCm39) |
S27P |
probably benign |
Het |
| Cela3b |
A |
T |
4: 137,152,110 (GRCm39) |
C116S |
possibly damaging |
Het |
| Clstn3 |
A |
C |
6: 124,408,921 (GRCm39) |
M909R |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,322,160 (GRCm39) |
E523G |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,582,034 (GRCm39) |
T1406S |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,837,680 (GRCm39) |
N763K |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,284,088 (GRCm39) |
F557L |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,090 (GRCm39) |
H270R |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,014 (GRCm39) |
L237P |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,874,300 (GRCm39) |
D99N |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,856 (GRCm39) |
C1607S |
probably damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,023 (GRCm39) |
I417M |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,182,118 (GRCm39) |
L143P |
|
Het |
| Gckr |
A |
G |
5: 31,457,353 (GRCm39) |
N122S |
possibly damaging |
Het |
| Gm3250 |
T |
A |
10: 77,617,932 (GRCm39) |
T149S |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,340,963 (GRCm39) |
M552I |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,871,356 (GRCm39) |
D694E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,233 (GRCm39) |
V790A |
probably benign |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,500 (GRCm39) |
T49I |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,904,053 (GRCm39) |
V22A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,060,838 (GRCm39) |
Y722F |
|
Het |
| Laptm5 |
A |
T |
4: 130,655,955 (GRCm39) |
E91V |
|
Het |
| Lrig1 |
A |
G |
6: 94,585,688 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
T |
G |
8: 18,682,443 (GRCm39) |
S527A |
probably benign |
Het |
| Med13l |
G |
T |
5: 118,880,816 (GRCm39) |
V1303L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,295,283 (GRCm39) |
D741G |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,783,178 (GRCm39) |
*3034R |
probably null |
Het |
| Nfkbie |
A |
T |
17: 45,872,959 (GRCm39) |
K354I |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,474,776 (GRCm39) |
N856S |
possibly damaging |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,808 (GRCm39) |
D122G |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,067,694 (GRCm39) |
T430K |
possibly damaging |
Het |
| Or12e10 |
C |
A |
2: 87,640,416 (GRCm39) |
S84Y |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,903 (GRCm39) |
I214R |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,365 (GRCm39) |
S203P |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,059,895 (GRCm39) |
K397E |
probably benign |
Het |
| Pafah1b3 |
G |
T |
7: 24,996,898 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
T |
18: 37,940,669 (GRCm39) |
V357L |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,498 (GRCm39) |
T354A |
unknown |
Het |
| Pira12 |
A |
G |
7: 3,897,547 (GRCm39) |
I516T |
possibly damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,026 (GRCm39) |
H241R |
probably damaging |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,600,150 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,543,720 (GRCm39) |
V273A |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,570,522 (GRCm39) |
N344S |
probably damaging |
Het |
| Serpinb1c |
C |
G |
13: 33,066,027 (GRCm39) |
G306A |
probably benign |
Het |
| Sh2d6 |
C |
T |
6: 72,492,604 (GRCm39) |
G206D |
probably benign |
Het |
| Slamf9 |
G |
A |
1: 172,304,938 (GRCm39) |
S184N |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,042 (GRCm39) |
T168A |
probably damaging |
Het |
| Tas2r124 |
G |
C |
6: 132,732,034 (GRCm39) |
W114C |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,877,616 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem52 |
A |
G |
4: 155,553,899 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,880,841 (GRCm39) |
K61E |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,087 (GRCm39) |
I603V |
probably benign |
Het |
| Vstm2l |
G |
T |
2: 157,756,795 (GRCm39) |
G22V |
unknown |
Het |
| Vwa5b1 |
T |
A |
4: 138,315,990 (GRCm39) |
Y584F |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,995,040 (GRCm39) |
V3233D |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,511,409 (GRCm39) |
V101A |
probably benign |
Het |
| Zfc3h1 |
C |
A |
10: 115,263,319 (GRCm39) |
Q1761K |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,505,189 (GRCm39) |
I350L |
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 |
|
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 |
|
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'- ACCATTTCCATAAACAGGCGTC -3'
(R):5'- CCTCAGAGTAGTTTCTCAGGC -3'
Sequencing Primer
(F):5'- CAGGCGTCACATGTTAAAAAGTTGC -3'
(R):5'- TCTGAGGAAGAGACGGACTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation