Incidental Mutation 'IGL03134:Zfp180'
| ID |
453163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.617)
|
| Stock # |
IGL03134 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23804170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 196
(D196E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068975]
[ENSMUST00000203854]
[ENSMUST00000206184]
[ENSMUST00000207002]
|
| AlphaFold |
Q6NZI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068975
AA Change: D196E
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: D196E
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (66/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414J04Rik |
A |
T |
11: 21,457,249 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Afdn |
C |
T |
17: 14,066,548 (GRCm39) |
T580I |
probably benign |
Het |
| Ankfy1 |
G |
T |
11: 72,603,011 (GRCm39) |
L13F |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,936 (GRCm39) |
T143A |
probably benign |
Het |
| Arsi |
T |
G |
18: 61,050,424 (GRCm39) |
W436G |
probably damaging |
Het |
| Bcl2l10 |
C |
T |
9: 75,255,480 (GRCm39) |
T99M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,285,716 (GRCm39) |
Q740R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,350,651 (GRCm39) |
F398S |
probably damaging |
Het |
| Ccrl2 |
A |
C |
9: 110,884,725 (GRCm39) |
Y258D |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,648,445 (GRCm39) |
D38V |
probably damaging |
Het |
| Chd6 |
C |
G |
2: 160,807,403 (GRCm39) |
C1937S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,521,387 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,290,069 (GRCm39) |
|
probably null |
Het |
| Cops7b |
T |
A |
1: 86,520,056 (GRCm39) |
L69Q |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Ddx3y |
T |
A |
Y: 1,278,949 (GRCm39) |
D163V |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,884 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,826,149 (GRCm39) |
T288A |
possibly damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,813 (GRCm39) |
|
probably benign |
Het |
| Gimap7 |
A |
G |
6: 48,700,435 (GRCm39) |
N7S |
probably benign |
Het |
| Gkap1 |
G |
A |
13: 58,411,746 (GRCm39) |
|
probably benign |
Het |
| Gm3404 |
G |
A |
5: 146,463,706 (GRCm39) |
R117Q |
probably benign |
Het |
| Herc1 |
T |
TN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Homo |
| Homer3 |
T |
C |
8: 70,738,985 (GRCm39) |
Y115H |
probably benign |
Het |
| Ighv10-1 |
T |
A |
12: 114,442,689 (GRCm39) |
M99L |
probably benign |
Het |
| Kdm2b |
A |
C |
5: 123,070,737 (GRCm39) |
S398R |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mettl25 |
G |
A |
10: 105,661,888 (GRCm39) |
Q361* |
probably null |
Het |
| Mkrn2 |
T |
A |
6: 115,590,496 (GRCm39) |
I284N |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,676,563 (GRCm39) |
N369K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myo6 |
C |
G |
9: 80,199,749 (GRCm39) |
N1019K |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,705,974 (GRCm39) |
V1857I |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,116,280 (GRCm39) |
S783P |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,532 (GRCm39) |
S347P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,007,172 (GRCm39) |
D548A |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,098,194 (GRCm39) |
Y1382C |
possibly damaging |
Het |
| Or14c41 |
G |
A |
7: 86,235,220 (GRCm39) |
V246M |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,941 (GRCm39) |
Y28F |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,311,403 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb7 |
A |
G |
18: 37,884,935 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,083,316 (GRCm39) |
R145S |
probably benign |
Het |
| Pom121 |
G |
A |
5: 135,410,935 (GRCm39) |
P741S |
unknown |
Het |
| Rarb |
T |
C |
14: 16,436,910 (GRCm38) |
N204D |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,815 (GRCm39) |
E337G |
probably benign |
Het |
| Serpina9 |
T |
C |
12: 103,967,696 (GRCm39) |
K233R |
probably null |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,427,999 (GRCm39) |
M159K |
probably benign |
Het |
| Stxbp4 |
C |
A |
11: 90,498,010 (GRCm39) |
R96S |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,612,567 (GRCm39) |
E375A |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,815,287 (GRCm39) |
V2A |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,610,281 (GRCm39) |
C58Y |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vav3 |
T |
C |
3: 109,470,410 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,228,080 (GRCm39) |
S1843N |
probably 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 |
|
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 |
|
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'- TCAACATGTGAAGAAGTCCGAG -3'
(R):5'- TTTAGATTTCGGGGCGCACC -3'
Sequencing Primer
(F):5'- TCCGAGACTGTAAGGAGCAGTC -3'
(R):5'- CTCGGCCAGAAGCTTGAACATG -3'
|
| Posted On |
2017-01-30 |
Incidental Mutation