Incidental Mutation 'R7101:Zfp180'
ID |
550819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp180
|
Ensembl Gene |
ENSMUSG00000057101 |
Gene Name |
zinc finger protein 180 |
Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
MMRRC Submission |
045193-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.582)
|
Stock # |
R7101 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 23803958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 126
(V126F)
|
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: V126F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000064611 Gene: ENSMUSG00000057101 AA Change: V126F
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
Adam25 |
A |
G |
8: 41,208,438 (GRCm39) |
D568G |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,386,965 (GRCm39) |
I130V |
probably benign |
Het |
Ankrd11 |
G |
T |
8: 123,622,194 (GRCm39) |
Q553K |
probably benign |
Het |
Ankrd42 |
A |
T |
7: 92,280,752 (GRCm39) |
H59Q |
possibly damaging |
Het |
Ankrd52 |
C |
T |
10: 128,218,249 (GRCm39) |
R318C |
probably damaging |
Het |
Arrdc5 |
G |
A |
17: 56,601,522 (GRCm39) |
T201M |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,459,132 (GRCm39) |
S377P |
probably benign |
Het |
Baz2a |
T |
C |
10: 127,957,056 (GRCm39) |
F936S |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,766,483 (GRCm39) |
D913G |
probably damaging |
Het |
Blnk |
T |
A |
19: 40,961,082 (GRCm39) |
M21L |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,587,401 (GRCm39) |
H132R |
probably benign |
Het |
Ccdc154 |
A |
G |
17: 25,382,442 (GRCm39) |
H88R |
probably benign |
Het |
Cfap20dc |
G |
T |
14: 8,511,171 (GRCm38) |
S414R |
possibly damaging |
Het |
Clic5 |
G |
T |
17: 44,586,179 (GRCm39) |
A223S |
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,014,795 (GRCm39) |
Y870F |
possibly damaging |
Het |
Dhx37 |
G |
A |
5: 125,502,006 (GRCm39) |
Q497* |
probably null |
Het |
Dnah11 |
T |
C |
12: 118,031,880 (GRCm39) |
T1763A |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,042,221 (GRCm39) |
R2005G |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,389,722 (GRCm39) |
G541S |
probably benign |
Het |
Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
Ephb3 |
C |
T |
16: 21,037,268 (GRCm39) |
H455Y |
possibly damaging |
Het |
Eri1 |
A |
C |
8: 35,949,777 (GRCm39) |
C127G |
probably damaging |
Het |
Faf1 |
A |
T |
4: 109,783,153 (GRCm39) |
E548D |
probably benign |
Het |
Gm3285 |
C |
A |
10: 77,698,194 (GRCm39) |
C114* |
probably null |
Het |
Gm9736 |
C |
T |
10: 77,587,167 (GRCm39) |
V8I |
unknown |
Het |
Gnptab |
A |
T |
10: 88,276,174 (GRCm39) |
M1154L |
probably benign |
Het |
Grin1 |
G |
A |
2: 25,186,647 (GRCm39) |
T770M |
probably damaging |
Het |
Haus1 |
A |
G |
18: 77,854,570 (GRCm39) |
S67P |
possibly damaging |
Het |
Homer1 |
C |
A |
13: 93,492,562 (GRCm39) |
Q184K |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,723,680 (GRCm39) |
T401A |
probably benign |
Het |
Il6st |
G |
A |
13: 112,631,907 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
A |
T |
17: 53,212,038 (GRCm39) |
D612V |
probably damaging |
Het |
Ltbr |
C |
G |
6: 125,289,763 (GRCm39) |
E144Q |
probably benign |
Het |
Mcf2l |
G |
T |
8: 13,063,579 (GRCm39) |
R961L |
possibly damaging |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Myo1b |
G |
T |
1: 51,797,160 (GRCm39) |
Q961K |
probably benign |
Het |
Myo1h |
C |
A |
5: 114,480,258 (GRCm39) |
T531N |
|
Het |
Ngly1 |
G |
A |
14: 16,283,445 (GRCm38) |
R408Q |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,632,966 (GRCm39) |
E1055G |
possibly damaging |
Het |
Nutm2 |
A |
G |
13: 50,626,934 (GRCm39) |
K363R |
probably benign |
Het |
Obox8 |
A |
T |
7: 14,066,752 (GRCm39) |
Y97* |
probably null |
Het |
Odc1 |
A |
G |
12: 17,597,319 (GRCm39) |
D7G |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,252,558 (GRCm39) |
T182I |
unknown |
Het |
Or2t49 |
A |
G |
11: 58,393,379 (GRCm39) |
M7T |
probably benign |
Het |
Or4c111 |
A |
T |
2: 88,844,324 (GRCm39) |
V28E |
possibly damaging |
Het |
Or8b12b |
T |
C |
9: 37,684,287 (GRCm39) |
S111P |
probably damaging |
Het |
Or8b46 |
G |
A |
9: 38,450,966 (GRCm39) |
M258I |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,827,430 (GRCm39) |
D188G |
probably benign |
Het |
Phactr2 |
T |
C |
10: 13,122,922 (GRCm39) |
E400G |
probably benign |
Het |
Phlpp1 |
G |
A |
1: 106,100,397 (GRCm39) |
V222M |
possibly damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,683 (GRCm39) |
V536A |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,223,833 (GRCm39) |
V719A |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,381,226 (GRCm39) |
A242V |
possibly damaging |
Het |
Prr14l |
A |
G |
5: 32,986,771 (GRCm39) |
L908P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,117,005 (GRCm39) |
N2146D |
possibly damaging |
Het |
Rtkn |
T |
C |
6: 83,126,993 (GRCm39) |
V333A |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,825,442 (GRCm39) |
Y196H |
probably benign |
Het |
Six5 |
A |
G |
7: 18,828,784 (GRCm39) |
T75A |
probably benign |
Het |
Slc35a4 |
T |
A |
18: 36,814,591 (GRCm39) |
L42H |
probably damaging |
Het |
Svs3a |
A |
T |
2: 164,131,933 (GRCm39) |
D168V |
probably damaging |
Het |
Themis |
T |
A |
10: 28,637,422 (GRCm39) |
Y175* |
probably null |
Het |
Tspan33 |
G |
T |
6: 29,716,783 (GRCm39) |
R180L |
probably benign |
Het |
Ttc28 |
C |
T |
5: 111,232,958 (GRCm39) |
S145F |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,810,878 (GRCm39) |
T102I |
unknown |
Het |
Usp34 |
T |
A |
11: 23,376,183 (GRCm39) |
V1908E |
|
Het |
Vmn2r101 |
A |
G |
17: 19,809,350 (GRCm39) |
I160V |
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,250,358 (GRCm39) |
C638S |
possibly damaging |
Het |
Wdfy4 |
C |
T |
14: 32,682,777 (GRCm39) |
R3136Q |
|
Het |
Zan |
C |
A |
5: 137,396,552 (GRCm39) |
A4335S |
unknown |
Het |
Zfp429 |
T |
A |
13: 67,538,931 (GRCm39) |
D171V |
possibly damaging |
Het |
Zfp638 |
T |
C |
6: 83,931,708 (GRCm39) |
I798T |
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 |
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'- GATACGTGACTAATACGGGTGCC -3'
(R):5'- TGACTGCTTGCAACGACATC -3'
Sequencing Primer
(F):5'- ACTAATACGGGTGCCTTGCTGTAC -3'
(R):5'- GCAACTTTTTAACATGTGACGCCTG -3'
|
Posted On |
2019-05-15 |