Incidental Mutation 'R3923:Zfp143'
| ID |
307040 |
| 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 |
040820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R3923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109673398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 138
(V138A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084727]
[ENSMUST00000169638]
[ENSMUST00000209505]
[ENSMUST00000211798]
|
| AlphaFold |
O70230 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084727
AA Change: V166A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081778
Gene: ENSMUSG00000061079
AA Change: V166A
| 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 damaging
Transcript: ENSMUST00000169638
AA Change: V138A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126015
Gene: ENSMUSG00000061079
AA Change: V138A
| 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 damaging
Transcript: ENSMUST00000209505
AA Change: V165A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211798
AA Change: V165A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,180,514 (GRCm39) |
M528V |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,601,304 (GRCm39) |
Y318F |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,427,871 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,774,069 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,532 (GRCm39) |
E447G |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,426 (GRCm39) |
I439T |
probably damaging |
Het |
| Ccdc50 |
A |
T |
16: 27,263,294 (GRCm39) |
R264S |
probably damaging |
Het |
| Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,660,147 (GRCm39) |
V369E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Col4a1 |
T |
A |
8: 11,251,665 (GRCm39) |
|
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,322,386 (GRCm39) |
V118A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,748,812 (GRCm39) |
T137S |
probably damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
A |
T |
2: 24,774,347 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,090,496 (GRCm39) |
L412* |
probably null |
Het |
| Ep400 |
T |
C |
5: 110,904,389 (GRCm39) |
N70S |
possibly damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,018,549 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,336,814 (GRCm39) |
V1395A |
probably benign |
Het |
| Gps1 |
A |
G |
11: 120,677,259 (GRCm39) |
N186S |
possibly damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,535 (GRCm39) |
D128E |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,301,107 (GRCm39) |
S362P |
probably damaging |
Het |
| Hypk |
C |
A |
2: 121,288,683 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,045 (GRCm39) |
S589P |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,358,625 (GRCm39) |
S223P |
probably benign |
Het |
| Kif21a |
C |
T |
15: 90,821,497 (GRCm39) |
S1432N |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lrrn2 |
A |
G |
1: 132,866,230 (GRCm39) |
S432G |
probably benign |
Het |
| Mlana |
T |
A |
19: 29,682,098 (GRCm39) |
S50R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,149 (GRCm39) |
H4383Q |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,216,442 (GRCm39) |
S1469P |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,121,531 (GRCm39) |
F270L |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,368,688 (GRCm39) |
I243V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,951,754 (GRCm39) |
I4297V |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or8k23 |
T |
C |
2: 86,186,205 (GRCm39) |
I174V |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,716,583 (GRCm39) |
|
probably null |
Het |
| Plod1 |
T |
C |
4: 148,000,280 (GRCm39) |
K260E |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
T |
A |
3: 159,310,037 (GRCm39) |
F103L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,672,218 (GRCm39) |
A1438T |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,042,037 (GRCm39) |
V402M |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Snph |
C |
T |
2: 151,435,431 (GRCm39) |
C430Y |
probably damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,167,510 (GRCm39) |
I1101V |
probably benign |
Het |
| Tatdn1 |
G |
A |
15: 58,793,020 (GRCm39) |
L120F |
possibly damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,630,183 (GRCm39) |
T636A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,639,418 (GRCm39) |
D127G |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,428 (GRCm39) |
|
probably null |
Het |
| Usp53 |
A |
T |
3: 122,727,954 (GRCm39) |
F876Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,223 (GRCm39) |
I316K |
probably benign |
Het |
| Zfp106 |
G |
T |
2: 120,365,337 (GRCm39) |
Q357K |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,818,126 (GRCm39) |
R118G |
probably null |
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 |
|
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'- TTGGTGACTGACAAAGGAATTG -3'
(R):5'- CTCCTAGTGCTGACTTCAGAGC -3'
Sequencing Primer
(F):5'- CTGAGAGGATTGGTGAACTAACATGC -3'
(R):5'- CTAGTGCTGACTTCAGAGCTTCAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation