Incidental Mutation 'R1605:Zfp180'
| ID |
176399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| MMRRC Submission |
039642-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
R1605 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23804049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 156
(V156D)
|
| 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: V156D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: V156D
| 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 |
0.0976 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
99% (75/76) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,506,104 (GRCm39) |
K211E |
probably damaging |
Het |
| Acot7 |
A |
G |
4: 152,291,285 (GRCm39) |
I84V |
possibly damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,867,781 (GRCm39) |
V34A |
probably benign |
Het |
| Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,818,516 (GRCm39) |
I2163K |
probably damaging |
Het |
| Azgp1 |
A |
T |
5: 137,983,426 (GRCm39) |
R34* |
probably null |
Het |
| Ccdc152 |
T |
G |
15: 3,327,603 (GRCm39) |
K58T |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,827,837 (GRCm39) |
Q912L |
probably benign |
Het |
| Cdc42ep5 |
T |
A |
7: 4,154,395 (GRCm39) |
H131L |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,844,675 (GRCm39) |
E1595K |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,290 (GRCm39) |
G41D |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,385,843 (GRCm39) |
V5I |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,915 (GRCm39) |
V22A |
possibly damaging |
Het |
| Ddi1 |
T |
C |
9: 6,266,012 (GRCm39) |
Y119C |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,083,923 (GRCm39) |
L785P |
probably damaging |
Het |
| Eqtn |
T |
A |
4: 94,816,587 (GRCm39) |
T69S |
possibly damaging |
Het |
| F11 |
T |
A |
8: 45,694,617 (GRCm39) |
K581N |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,782,290 (GRCm39) |
P172S |
probably damaging |
Het |
| Gm7579 |
G |
T |
7: 141,765,603 (GRCm39) |
C3F |
unknown |
Het |
| Grin2a |
A |
G |
16: 9,481,194 (GRCm39) |
V501A |
possibly damaging |
Het |
| Grk4 |
G |
A |
5: 34,831,901 (GRCm39) |
D57N |
probably damaging |
Het |
| Gsdma |
A |
T |
11: 98,557,319 (GRCm39) |
D86V |
probably damaging |
Het |
| Gsx1 |
A |
G |
5: 147,126,738 (GRCm39) |
E187G |
probably damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,537 (GRCm39) |
D176G |
probably damaging |
Het |
| Inpp5k |
T |
A |
11: 75,524,307 (GRCm39) |
F75L |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,326,620 (GRCm39) |
V114A |
possibly damaging |
Het |
| Izumo3 |
A |
T |
4: 92,032,977 (GRCm39) |
C130S |
probably damaging |
Het |
| Mei4 |
G |
A |
9: 81,809,639 (GRCm39) |
E241K |
possibly damaging |
Het |
| Mocs2 |
T |
C |
13: 114,961,120 (GRCm39) |
V39A |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,572 (GRCm39) |
R1184H |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,436,783 (GRCm39) |
Q509R |
probably null |
Het |
| Myh8 |
T |
C |
11: 67,192,497 (GRCm39) |
W1459R |
probably damaging |
Het |
| Mypop |
T |
A |
7: 18,734,918 (GRCm39) |
|
probably benign |
Het |
| Ndc1 |
C |
A |
4: 107,225,293 (GRCm39) |
T3K |
probably damaging |
Het |
| Nf1 |
A |
C |
11: 79,331,749 (GRCm39) |
M695L |
probably benign |
Het |
| Nup50l |
A |
G |
6: 96,141,793 (GRCm39) |
M417T |
probably benign |
Het |
| Nutm2 |
C |
A |
13: 50,623,955 (GRCm39) |
D217E |
possibly damaging |
Het |
| Or52a20 |
T |
C |
7: 103,365,858 (GRCm39) |
I19T |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,994 (GRCm39) |
T109A |
probably benign |
Het |
| Pde6c |
C |
A |
19: 38,129,940 (GRCm39) |
D283E |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,591,142 (GRCm39) |
|
probably benign |
Het |
| Pigt |
G |
C |
2: 164,349,419 (GRCm39) |
R574P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,796,500 (GRCm39) |
I2354T |
possibly damaging |
Het |
| Prdm15 |
T |
C |
16: 97,640,506 (GRCm39) |
E27G |
probably damaging |
Het |
| Ptpn14 |
A |
G |
1: 189,597,709 (GRCm39) |
I1140V |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,519,071 (GRCm39) |
S258P |
probably damaging |
Het |
| Rnf17 |
G |
T |
14: 56,730,822 (GRCm39) |
G1209C |
probably damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,225 (GRCm39) |
|
probably null |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Serpinb1b |
T |
A |
13: 33,277,646 (GRCm39) |
V293E |
possibly damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,222,112 (GRCm39) |
|
probably null |
Het |
| Sez6l |
A |
C |
5: 112,622,915 (GRCm39) |
I212S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
| Spag9 |
G |
A |
11: 93,939,365 (GRCm39) |
R98H |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,511 (GRCm39) |
H556Q |
possibly damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,272 (GRCm39) |
L128P |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 37,028,473 (GRCm39) |
V530A |
probably benign |
Het |
| Tatdn1 |
A |
G |
15: 58,793,039 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,430,206 (GRCm39) |
S466P |
probably benign |
Het |
| Tmem199 |
A |
T |
11: 78,399,152 (GRCm39) |
M175K |
possibly damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,764 (GRCm39) |
E54G |
probably benign |
Het |
| Usp37 |
G |
T |
1: 74,532,163 (GRCm39) |
Q77K |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,967,125 (GRCm39) |
I301V |
possibly damaging |
Het |
| Vmn1r34 |
T |
G |
6: 66,613,932 (GRCm39) |
M269L |
probably benign |
Het |
| Wdr93 |
C |
A |
7: 79,421,257 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,214,370 (GRCm39) |
D644G |
probably damaging |
Het |
| Zc3h13 |
C |
T |
14: 75,574,923 (GRCm39) |
R1591* |
probably null |
Het |
| Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
| Zfp646 |
G |
T |
7: 127,479,359 (GRCm39) |
|
probably null |
Het |
| Zscan12 |
C |
A |
13: 21,550,813 (GRCm39) |
T144K |
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 |
|
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 |
|
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'- CTGTACATGGAACAGAAGGAGCCAC -3'
(R):5'- TCTCATTTAGATTTCGGGGCGCAC -3'
Sequencing Primer
(F):5'- GCAAAGCAGACAATCTTCAATG -3'
(R):5'- GGCCATTAAGTTCATAGGCTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation