Incidental Mutation 'R3081:Zfp180'
| ID |
265421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| MMRRC Submission |
040571-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
R3081 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23804928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 449
(Q449L)
|
| 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: Q449L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: Q449L
| 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 |
0.1525 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
| Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
| Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,281 (GRCm39) |
R583H |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,989 (GRCm39) |
N1155K |
possibly damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
| Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
| Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
| Coro6 |
T |
C |
11: 77,359,738 (GRCm39) |
F336S |
probably damaging |
Het |
| Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,908,222 (GRCm39) |
Y660H |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
| Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
| Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
| Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,824,566 (GRCm39) |
F519S |
probably damaging |
Het |
| Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
| Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
| Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
| Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
| Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
| Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,717 (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 |
|
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 |
|
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'- TGGAGCTCCCATCTCATTGC -3'
(R):5'- CTGACTGAAGGATTTCCCGC -3'
Sequencing Primer
(F):5'- CTTGTGGTGCATCAGAGAACTCAC -3'
(R):5'- ACTGCTTGCACTGATACGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation