Incidental Mutation 'IGL00429:Zfp143'
| ID |
332405 |
| 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 # |
IGL00429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109690979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 510
(I510T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084727]
[ENSMUST00000169638]
[ENSMUST00000209505]
[ENSMUST00000211798]
|
| AlphaFold |
O70230 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084727
AA Change: I511T
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: I511T
| 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 |
possibly damaging
Transcript: ENSMUST00000169638
AA Change: I483T
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: I483T
| 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 |
noncoding transcript
Transcript: ENSMUST00000209252
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209505
AA Change: I510T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211798
AA Change: I510T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009J07Rik |
G |
A |
10: 77,729,673 (GRCm39) |
|
probably benign |
Het |
| 4933411K16Rik |
T |
C |
19: 42,040,983 (GRCm39) |
L38P |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,255 (GRCm39) |
|
probably null |
Het |
| Abca15 |
T |
A |
7: 119,996,277 (GRCm39) |
I1401N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,184,294 (GRCm39) |
Y569D |
probably damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,555,192 (GRCm39) |
S458G |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,658,280 (GRCm39) |
P2097S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,145 (GRCm39) |
D607G |
probably benign |
Het |
| Ccdc158 |
C |
A |
5: 92,805,740 (GRCm39) |
M338I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,256,920 (GRCm39) |
S735P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,828,448 (GRCm39) |
V180A |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,171 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,691,668 (GRCm39) |
V180A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,166,826 (GRCm39) |
T1672S |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,340 (GRCm39) |
L141Q |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,127,597 (GRCm39) |
E313G |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,809 (GRCm39) |
T593A |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,310 (GRCm39) |
S15P |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,812 (GRCm39) |
E526K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,887,022 (GRCm39) |
H109L |
possibly damaging |
Het |
| Mab21l1 |
A |
C |
3: 55,690,557 (GRCm39) |
Q48P |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,294 (GRCm39) |
K1474N |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,714,109 (GRCm39) |
F237L |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,449 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
C |
2: 156,872,784 (GRCm39) |
F909C |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,071,616 (GRCm39) |
Q478* |
probably null |
Het |
| Mylip |
C |
A |
13: 45,562,043 (GRCm39) |
P282T |
probably benign |
Het |
| Mymk |
T |
C |
2: 26,952,799 (GRCm39) |
Y103C |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,052,656 (GRCm39) |
N107K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,753 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,631 (GRCm39) |
K129E |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,139,026 (GRCm39) |
Y1714C |
probably damaging |
Het |
| Pm20d2 |
A |
G |
4: 33,187,205 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,801 (GRCm39) |
T172A |
probably benign |
Het |
| Prkca |
T |
C |
11: 108,234,334 (GRCm39) |
T54A |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,410 (GRCm39) |
D295G |
probably benign |
Het |
| Rdh12 |
A |
G |
12: 79,258,176 (GRCm39) |
I68V |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,193,653 (GRCm39) |
F850L |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,431,566 (GRCm39) |
S185C |
possibly damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,288 (GRCm39) |
L19Q |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,311 (GRCm39) |
C844* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,641,875 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,518,709 (GRCm39) |
|
probably benign |
Het |
| Zfp930 |
G |
T |
8: 69,680,634 (GRCm39) |
K90N |
probably damaging |
Het |
|
| Other mutations in Zfp143 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Zfp143
|
APN |
7 |
109,673,333 (GRCm39) |
nonsense |
probably null |
|
|
IGL01678:Zfp143
|
APN |
7 |
109,679,558 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-08-05 |
Incidental Mutation