Incidental Mutation 'R8368:Zfp143'
| ID |
646258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp143
|
| Ensembl Gene |
ENSMUSG00000061079 |
| Gene Name |
zinc finger protein 143 |
| Synonyms |
D7Ertd805e, KRAB14, Zfp80-rs1, Zfp79, pHZ-1, Staf |
| MMRRC Submission |
067738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R8368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109682455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 342
(N342I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084727]
[ENSMUST00000169638]
[ENSMUST00000209505]
[ENSMUST00000211798]
|
| AlphaFold |
O70230 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084727
AA Change: N342I
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: N342I
| 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: N314I
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: N314I
| 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 |
possibly damaging
Transcript: ENSMUST00000209505
AA Change: N341I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211798
AA Change: N341I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,619,455 (GRCm39) |
S710T |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,744,615 (GRCm39) |
I193S |
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,133,820 (GRCm39) |
L67P |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,543,742 (GRCm39) |
L748P |
probably benign |
Het |
| Cers4 |
T |
G |
8: 4,565,698 (GRCm39) |
V48G |
probably benign |
Het |
| Chrna10 |
T |
C |
7: 101,764,223 (GRCm39) |
T54A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,124 (GRCm39) |
S242P |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,604,190 (GRCm39) |
T325A |
probably benign |
Het |
| Gm21190 |
A |
T |
5: 15,729,848 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gm49368 |
T |
C |
7: 127,713,921 (GRCm39) |
S909P |
probably benign |
Het |
| Gm5150 |
C |
A |
3: 16,044,902 (GRCm39) |
V108F |
probably damaging |
Het |
| Gsdmc2 |
G |
A |
15: 63,696,902 (GRCm39) |
T423I |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,388,241 (GRCm39) |
C501S |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,836,796 (GRCm39) |
N551D |
probably benign |
Het |
| Kctd3 |
G |
A |
1: 188,704,404 (GRCm39) |
T789I |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,759,264 (GRCm39) |
E474G |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,002,379 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
G |
4: 108,870,895 (GRCm39) |
D174G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 90,298,815 (GRCm39) |
Y445* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,199 (GRCm39) |
Y397C |
probably damaging |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Rad21l |
A |
G |
2: 151,495,390 (GRCm39) |
V431A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,574,155 (GRCm39) |
L694S |
possibly damaging |
Het |
| Rasal1 |
A |
G |
5: 120,809,615 (GRCm39) |
S507G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,940,833 (GRCm39) |
D2162V |
probably damaging |
Het |
| Samd7 |
A |
T |
3: 30,819,574 (GRCm39) |
D441V |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,943,255 (GRCm39) |
S623G |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,592,433 (GRCm39) |
I160T |
probably benign |
Het |
| Slc23a3 |
G |
T |
1: 75,106,281 (GRCm39) |
P313T |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,334,873 (GRCm39) |
S231P |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,368 (GRCm39) |
D1320G |
possibly damaging |
Het |
| Tdpoz7 |
A |
G |
3: 93,979,893 (GRCm39) |
F20S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,030 (GRCm39) |
T372A |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,672 (GRCm39) |
T149A |
possibly damaging |
Het |
| Trim63 |
TGAGGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAGGAG |
4: 134,055,017 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,838,070 (GRCm39) |
S927N |
probably benign |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,799 (GRCm39) |
G247V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCTCTCCAGAACACAGC -3'
(R):5'- AGTTGAAAGCCTCGAAGGACAC -3'
Sequencing Primer
(F):5'- CTTAGAAGGGAAACTCAGGGCCTTC -3'
(R):5'- CCTCGAAGGACACAGGGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation