Incidental Mutation 'R0668:Zfp143'
ID |
62098 |
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 |
038853-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R0668 (G1)
|
Quality Score |
151 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 109660481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084727]
[ENSMUST00000084731]
[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: ENSMUST00000084731
|
SMART Domains |
Protein: ENSMUSP00000081782 Gene: ENSMUSG00000066232
Domain | Start | End | E-Value | Type |
IBN_N
|
22 |
101 |
3.06e-15 |
SMART |
Pfam:Cse1
|
168 |
452 |
2.8e-12 |
PFAM |
low complexity region
|
701 |
712 |
N/A |
INTRINSIC |
low complexity region
|
881 |
900 |
N/A |
INTRINSIC |
low complexity region
|
923 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098110
|
SMART Domains |
Protein: ENSMUSP00000095714 Gene: ENSMUSG00000073867
Domain | Start | End | E-Value | Type |
SCOP:d1gosa1
|
29 |
85 |
4e-3 |
SMART |
|
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCGCAGAAGCAGAAAGCTC -3'
(R):5'- TGACTGGATGGCGAAACTGCTC -3'
Sequencing Primer
(F):5'- AGGTTCCGAACCCAGTCTC -3'
(R):5'- GAAACTGCTCATCGCGGAC -3'
|
Posted On |
2013-07-30 |