Incidental Mutation 'IGL01678:Zfp143'
| ID |
103725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp143
|
| Ensembl Gene |
ENSMUSG00000061079 |
| Gene Name |
zinc finger protein 143 |
| Synonyms |
D7Ertd805e, KRAB14, Zfp80-rs1, Zfp79, pHZ-1, Staf |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 109679558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084727]
[ENSMUST00000169638]
[ENSMUST00000209505]
[ENSMUST00000211798]
|
| AlphaFold |
O70230 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084727
|
| SMART Domains |
Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
236 |
260 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
266 |
290 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
296 |
320 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
326 |
350 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
356 |
380 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
386 |
410 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
416 |
439 |
1.79e-2 |
SMART |
|
low complexity region
|
443 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169638
|
| SMART Domains |
Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
209 |
233 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
239 |
263 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
269 |
293 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
299 |
323 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
329 |
353 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
359 |
383 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
389 |
412 |
1.79e-2 |
SMART |
|
low complexity region
|
416 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211798
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this locus results in fertility defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(86) : Targeted(2) Gene trapped(84)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
Het |
|
| Other mutations in Zfp143 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Zfp143
|
APN |
7 |
109,690,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01610:Zfp143
|
APN |
7 |
109,673,333 (GRCm39) |
nonsense |
probably null |
|
|
IGL01734:Zfp143
|
APN |
7 |
109,671,416 (GRCm39) |
splice site |
probably benign |
|
|
IGL02505:Zfp143
|
APN |
7 |
109,690,993 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02577:Zfp143
|
APN |
7 |
109,691,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03084:Zfp143
|
APN |
7 |
109,668,818 (GRCm39) |
splice site |
probably benign |
|
|
H8786:Zfp143
|
UTSW |
7 |
109,693,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0015:Zfp143
|
UTSW |
7 |
109,685,318 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0324:Zfp143
|
UTSW |
7 |
109,676,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0445:Zfp143
|
UTSW |
7 |
109,660,324 (GRCm39) |
unclassified |
probably benign |
|
|
R0668:Zfp143
|
UTSW |
7 |
109,660,481 (GRCm39) |
unclassified |
probably benign |
|
|
R1178:Zfp143
|
UTSW |
7 |
109,674,928 (GRCm39) |
splice site |
probably benign |
|
|
R1587:Zfp143
|
UTSW |
7 |
109,673,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1992:Zfp143
|
UTSW |
7 |
109,660,489 (GRCm39) |
unclassified |
probably benign |
|
|
R2110:Zfp143
|
UTSW |
7 |
109,685,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Zfp143
|
UTSW |
7 |
109,682,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2417:Zfp143
|
UTSW |
7 |
109,668,803 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2899:Zfp143
|
UTSW |
7 |
109,671,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Zfp143
|
UTSW |
7 |
109,673,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4117:Zfp143
|
UTSW |
7 |
109,691,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4804:Zfp143
|
UTSW |
7 |
109,687,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Zfp143
|
UTSW |
7 |
109,673,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5097:Zfp143
|
UTSW |
7 |
109,687,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Zfp143
|
UTSW |
7 |
109,693,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Zfp143
|
UTSW |
7 |
109,669,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5543:Zfp143
|
UTSW |
7 |
109,682,522 (GRCm39) |
nonsense |
probably null |
|
|
R5630:Zfp143
|
UTSW |
7 |
109,687,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Zfp143
|
UTSW |
7 |
109,685,442 (GRCm39) |
nonsense |
probably null |
|
|
R6334:Zfp143
|
UTSW |
7 |
109,685,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Zfp143
|
UTSW |
7 |
109,691,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Zfp143
|
UTSW |
7 |
109,692,287 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7448:Zfp143
|
UTSW |
7 |
109,669,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7635:Zfp143
|
UTSW |
7 |
109,688,025 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7717:Zfp143
|
UTSW |
7 |
109,685,427 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7943:Zfp143
|
UTSW |
7 |
109,671,681 (GRCm39) |
splice site |
probably null |
|
|
R8191:Zfp143
|
UTSW |
7 |
109,676,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Zfp143
|
UTSW |
7 |
109,690,991 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8368:Zfp143
|
UTSW |
7 |
109,682,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8724:Zfp143
|
UTSW |
7 |
109,681,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8935:Zfp143
|
UTSW |
7 |
109,669,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Zfp143
|
UTSW |
7 |
109,692,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation