Incidental Mutation 'R0445:Zfp143'
| ID |
39318 |
| 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 |
038646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0445 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109660898-109694603 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 109660324 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
C |
17: 48,400,542 (GRCm39) |
|
probably null |
Het |
| A2m |
C |
T |
6: 121,634,914 (GRCm39) |
T687I |
probably damaging |
Het |
| Acsbg1 |
A |
G |
9: 54,523,179 (GRCm39) |
S483P |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,230,591 (GRCm39) |
|
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,490,509 (GRCm39) |
V595A |
possibly damaging |
Het |
| Aplf |
A |
T |
6: 87,640,734 (GRCm39) |
L71I |
probably damaging |
Het |
| Arid3c |
G |
T |
4: 41,725,172 (GRCm39) |
P292T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,054,214 (GRCm39) |
V3111A |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,908,191 (GRCm39) |
Y213* |
probably null |
Het |
| C87436 |
T |
A |
6: 86,426,832 (GRCm39) |
S332T |
possibly damaging |
Het |
| Cad |
G |
A |
5: 31,230,053 (GRCm39) |
A1454T |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 47,004,857 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
G |
8: 96,486,836 (GRCm39) |
C624R |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,411,738 (GRCm39) |
I541F |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,095,503 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,573,703 (GRCm39) |
I753N |
probably damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,604 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,057,399 (GRCm39) |
V1826D |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,711 (GRCm39) |
Y755C |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,574,989 (GRCm39) |
N694K |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,667 (GRCm39) |
H300R |
probably benign |
Het |
| Galnt5 |
C |
A |
2: 57,888,962 (GRCm39) |
F187L |
probably benign |
Het |
| Gm17067 |
A |
G |
7: 42,358,046 (GRCm39) |
I152T |
probably benign |
Het |
| Gnb3 |
T |
C |
6: 124,814,218 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gpr155 |
G |
A |
2: 73,200,488 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,076,777 (GRCm39) |
I240T |
probably damaging |
Het |
| Ifitm1 |
A |
T |
7: 140,548,354 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
T |
4: 149,272,466 (GRCm39) |
L1455Q |
probably benign |
Het |
| Krt1 |
A |
C |
15: 101,756,056 (GRCm39) |
L388R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,426,505 (GRCm39) |
K635* |
probably null |
Het |
| Map3k2 |
A |
G |
18: 32,350,263 (GRCm39) |
Y371C |
probably damaging |
Het |
| Mcu |
T |
C |
10: 59,292,467 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
C |
T |
6: 39,381,788 (GRCm39) |
V167I |
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,198 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,395 (GRCm39) |
Y547C |
possibly damaging |
Het |
| Nup88 |
G |
A |
11: 70,838,555 (GRCm39) |
T487I |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,161 (GRCm39) |
R7457H |
unknown |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or2y13 |
T |
A |
11: 49,414,784 (GRCm39) |
V78E |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,113 (GRCm39) |
S118P |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,840,205 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,178,381 (GRCm39) |
Y157F |
probably damaging |
Het |
| Pex10 |
G |
A |
4: 155,153,531 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,827,244 (GRCm39) |
|
probably benign |
Het |
| Polr3a |
G |
T |
14: 24,504,989 (GRCm39) |
D1090E |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,255,027 (GRCm39) |
L276R |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,736 (GRCm39) |
L263S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,696,399 (GRCm39) |
D967G |
probably benign |
Het |
| Shc1 |
G |
T |
3: 89,333,844 (GRCm39) |
A226S |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,245,192 (GRCm39) |
V585A |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,677,184 (GRCm39) |
S461T |
probably benign |
Het |
| Tbkbp1 |
A |
T |
11: 97,040,295 (GRCm39) |
S40T |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,720 (GRCm39) |
M25T |
probably benign |
Het |
| Themis |
A |
G |
10: 28,658,007 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,661 (GRCm39) |
T206A |
probably benign |
Het |
| Tmem74b |
G |
A |
2: 151,548,879 (GRCm39) |
R202H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,894,590 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,230,785 (GRCm39) |
H557R |
probably benign |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zftraf1 |
T |
C |
15: 76,532,457 (GRCm39) |
H217R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTGCGGCTACTGCACTCTTATC -3'
(R):5'- TCCCTACAGGGCTAATGTGGAACC -3'
Sequencing Primer
(F):5'- GGCTACTGCACTCTTATCTGAAATG -3'
(R):5'- GCCTTTCTATTGCCGAGTGT -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation