Incidental Mutation 'R8967:Zfp180'
| ID |
713488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| MMRRC Submission |
068801-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
R8967 (G1)
|
| Quality Score |
75.0075 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23804726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 382
(S382P)
|
| 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: S382P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: S382P
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,242,696 (GRCm39) |
S1520P |
probably benign |
Het |
| Abhd12 |
A |
G |
2: 150,679,351 (GRCm39) |
Y291H |
probably damaging |
Het |
| Abr |
C |
A |
11: 76,369,855 (GRCm39) |
S178I |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,378,882 (GRCm39) |
I422K |
possibly damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,677,662 (GRCm39) |
T185S |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,286,341 (GRCm39) |
Y228N |
probably damaging |
Het |
| B4gat1 |
T |
C |
19: 5,089,678 (GRCm39) |
V225A |
probably damaging |
Het |
| Brf1 |
G |
A |
12: 112,937,239 (GRCm39) |
P183S |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,163,297 (GRCm39) |
N312S |
possibly damaging |
Het |
| Cep135 |
T |
C |
5: 76,751,165 (GRCm39) |
L337P |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,265 (GRCm39) |
C334* |
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,661,564 (GRCm39) |
Y408N |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,014,577 (GRCm39) |
Y287H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,682,594 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,015,938 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
A |
3: 145,761,395 (GRCm39) |
N654Y |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,078,862 (GRCm39) |
Y526N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,199,132 (GRCm39) |
V218E |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,790,738 (GRCm39) |
|
probably null |
Het |
| Hsd17b7 |
A |
T |
1: 169,796,685 (GRCm39) |
L6* |
probably null |
Het |
| Irgc |
T |
A |
7: 24,132,737 (GRCm39) |
T27S |
probably benign |
Het |
| Lama3 |
A |
C |
18: 12,665,096 (GRCm39) |
I671L |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,806 (GRCm39) |
L308P |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp1 |
G |
A |
2: 127,582,897 (GRCm39) |
P672L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,896,907 (GRCm39) |
H905Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,740 (GRCm39) |
V2102A |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,039 (GRCm39) |
T39A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,066 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,073 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,844 (GRCm39) |
Y32* |
probably null |
Het |
| Or6z7 |
A |
G |
7: 6,484,011 (GRCm39) |
L48P |
possibly damaging |
Het |
| Pank4 |
C |
G |
4: 155,055,415 (GRCm39) |
H262D |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,756,063 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,324 (GRCm39) |
T286M |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,434,744 (GRCm39) |
D79V |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,056,854 (GRCm39) |
T682A |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,785,084 (GRCm39) |
R974Q |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,020,419 (GRCm39) |
F230L |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,729,701 (GRCm39) |
L850* |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,338,564 (GRCm39) |
V282L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,765,739 (GRCm39) |
S1895P |
unknown |
Het |
| Tango2 |
A |
G |
16: 18,165,763 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tmem64 |
T |
A |
4: 15,266,575 (GRCm39) |
F208L |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,694,023 (GRCm39) |
V191E |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,587 (GRCm39) |
I675V |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,156,883 (GRCm39) |
S194G |
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 |
|
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'- CAGAGCCTGAGAAACTACTCTGAG -3'
(R):5'- TGAACGACTTCCCACACTGG -3'
Sequencing Primer
(F):5'- TAAGTACTGCGGCAAGTCCTTCAG -3'
(R):5'- CCACACTGGGTGCATTCGTATG -3'
|
| Posted On |
2022-05-19 |
Incidental Mutation