Incidental Mutation 'R5764:Zfp180'
ID |
446174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp180
|
Ensembl Gene |
ENSMUSG00000057101 |
Gene Name |
zinc finger protein 180 |
Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
MMRRC Submission |
043365-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.582)
|
Stock # |
R5764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23800909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 53
(Y53C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068975]
[ENSMUST00000203854]
[ENSMUST00000206184]
[ENSMUST00000207002]
|
AlphaFold |
Q6NZI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068975
AA Change: T55A
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000064611 Gene: ENSMUSG00000057101 AA Change: T55A
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 |
possibly damaging
Transcript: ENSMUST00000203854
AA Change: Y53C
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145165 Gene: ENSMUSG00000057101 AA Change: Y53C
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (53/54) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,800,197 (GRCm39) |
T1277A |
probably damaging |
Het |
Cep85l |
A |
T |
10: 53,225,090 (GRCm39) |
D166E |
probably benign |
Het |
Cope |
T |
C |
8: 70,759,231 (GRCm39) |
S125P |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,747,724 (GRCm39) |
|
probably benign |
Het |
Endou |
G |
A |
15: 97,612,488 (GRCm39) |
R253C |
probably damaging |
Het |
Entpd1 |
A |
T |
19: 40,727,417 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,573,172 (GRCm39) |
Y926H |
probably damaging |
Het |
Grk3 |
A |
G |
5: 113,114,776 (GRCm39) |
|
probably null |
Het |
Hba-a2 |
T |
A |
11: 32,247,156 (GRCm39) |
|
probably null |
Het |
Hecw1 |
C |
T |
13: 14,497,094 (GRCm39) |
V305I |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,289,032 (GRCm39) |
T3735K |
probably damaging |
Het |
Htr4 |
G |
A |
18: 62,570,613 (GRCm39) |
A223T |
probably damaging |
Het |
Iglv1 |
T |
C |
16: 18,904,190 (GRCm39) |
I7M |
unknown |
Het |
Jag1 |
C |
T |
2: 136,931,167 (GRCm39) |
C655Y |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,062,291 (GRCm39) |
T1548I |
probably damaging |
Het |
Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
Klra6 |
T |
A |
6: 129,999,692 (GRCm39) |
Q92L |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,431,187 (GRCm39) |
N325S |
probably benign |
Het |
Ly75 |
C |
T |
2: 60,148,783 (GRCm39) |
R1182H |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,034 (GRCm39) |
S975P |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
Mpdz |
A |
G |
4: 81,274,683 (GRCm39) |
F180L |
probably benign |
Het |
Myadm |
G |
A |
7: 3,345,768 (GRCm39) |
V177I |
possibly damaging |
Het |
Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
Nup153 |
A |
G |
13: 46,840,803 (GRCm39) |
M255T |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,822,043 (GRCm39) |
A303V |
probably damaging |
Het |
Pgr |
A |
T |
9: 8,900,538 (GRCm39) |
I24F |
probably benign |
Het |
Pigq |
A |
T |
17: 26,151,093 (GRCm39) |
I412N |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,485,074 (GRCm39) |
H525R |
probably damaging |
Het |
Polq |
T |
G |
16: 36,837,706 (GRCm39) |
M206R |
probably damaging |
Het |
Psap |
T |
A |
10: 60,129,186 (GRCm39) |
S100T |
probably benign |
Het |
Psme4 |
G |
A |
11: 30,722,364 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
A |
12: 103,732,080 (GRCm39) |
M260L |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,328,230 (GRCm39) |
L106P |
possibly damaging |
Het |
Sumf1 |
C |
T |
6: 108,095,424 (GRCm39) |
|
probably benign |
Het |
Tcp1 |
A |
G |
17: 13,135,489 (GRCm39) |
T13A |
probably benign |
Het |
Tfap2a |
A |
C |
13: 40,881,831 (GRCm39) |
I185S |
possibly damaging |
Het |
Tlr2 |
A |
C |
3: 83,745,819 (GRCm39) |
I88S |
probably damaging |
Het |
Tmc4 |
A |
T |
7: 3,675,022 (GRCm39) |
F283L |
probably damaging |
Het |
Tox4 |
T |
C |
14: 52,523,277 (GRCm39) |
V79A |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,181,073 (GRCm39) |
E101D |
probably damaging |
Het |
Troap |
T |
A |
15: 98,973,300 (GRCm39) |
I22N |
probably damaging |
Het |
Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
Utp4 |
T |
G |
8: 107,644,248 (GRCm39) |
V529G |
possibly damaging |
Het |
Zeb2 |
T |
C |
2: 44,886,931 (GRCm39) |
M664V |
possibly damaging |
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 |
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'- TGGCATCTGAAGCTCAGCAG -3'
(R):5'- GCTATGGTGTGTTCCTGAGCAC -3'
Sequencing Primer
(F):5'- AGCAGTGCTGTTGACCCTG -3'
(R):5'- TGTGTTCCTGAGCACACAAAAC -3'
|
Posted On |
2016-11-21 |