Incidental Mutation 'R5476:Zfp442'
| ID |
434067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp442
|
| Ensembl Gene |
ENSMUSG00000068130 |
| Gene Name |
zinc finger protein 442 |
| Synonyms |
OTTMUSG00000015730 |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150249061-150293406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150250079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 551
(C551S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109916]
[ENSMUST00000185796]
|
| AlphaFold |
A2AQA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109916
AA Change: C608S
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: C608S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
3.27e-19 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
631 |
654 |
3.11e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185796
AA Change: C551S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: C551S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
1.4e-21 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
3.4e-5 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
3.9e-5 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
1e-6 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
5.6e-6 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
1.3e-5 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
6.7e-6 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
9.6e-5 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
6.9e-7 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
7.7e-6 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.9e-5 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
2e-5 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
3.5e-6 |
SMART |
|
ZnF_C2H2
|
574 |
597 |
1.3e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
|
| Other mutations in Zfp442 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Zfp442
|
APN |
2 |
150,251,267 (GRCm39) |
nonsense |
probably null |
|
|
IGL02566:Zfp442
|
APN |
2 |
150,251,711 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03217:Zfp442
|
APN |
2 |
150,251,714 (GRCm39) |
splice site |
probably benign |
|
|
LCD18:Zfp442
|
UTSW |
2 |
150,261,768 (GRCm39) |
intron |
probably benign |
|
|
PIT4812001:Zfp442
|
UTSW |
2 |
150,251,661 (GRCm39) |
nonsense |
probably null |
|
|
R0219:Zfp442
|
UTSW |
2 |
150,253,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0521:Zfp442
|
UTSW |
2 |
150,253,169 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1633:Zfp442
|
UTSW |
2 |
150,250,260 (GRCm39) |
nonsense |
probably null |
|
|
R1702:Zfp442
|
UTSW |
2 |
150,251,100 (GRCm39) |
nonsense |
probably null |
|
|
R1829:Zfp442
|
UTSW |
2 |
150,250,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Zfp442
|
UTSW |
2 |
150,250,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Zfp442
|
UTSW |
2 |
150,250,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Zfp442
|
UTSW |
2 |
150,250,042 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4676:Zfp442
|
UTSW |
2 |
150,251,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Zfp442
|
UTSW |
2 |
150,250,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Zfp442
|
UTSW |
2 |
150,253,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4932:Zfp442
|
UTSW |
2 |
150,251,635 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4963:Zfp442
|
UTSW |
2 |
150,250,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Zfp442
|
UTSW |
2 |
150,251,530 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5986:Zfp442
|
UTSW |
2 |
150,249,944 (GRCm39) |
nonsense |
probably null |
|
|
R6042:Zfp442
|
UTSW |
2 |
150,250,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6383:Zfp442
|
UTSW |
2 |
150,293,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6452:Zfp442
|
UTSW |
2 |
150,250,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Zfp442
|
UTSW |
2 |
150,251,499 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6931:Zfp442
|
UTSW |
2 |
150,252,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7061:Zfp442
|
UTSW |
2 |
150,249,937 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7184:Zfp442
|
UTSW |
2 |
150,250,056 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7214:Zfp442
|
UTSW |
2 |
150,251,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7225:Zfp442
|
UTSW |
2 |
150,250,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7513:Zfp442
|
UTSW |
2 |
150,250,676 (GRCm39) |
missense |
unknown |
|
|
R7591:Zfp442
|
UTSW |
2 |
150,250,092 (GRCm39) |
nonsense |
probably null |
|
|
R7679:Zfp442
|
UTSW |
2 |
150,252,917 (GRCm39) |
nonsense |
probably null |
|
|
R7768:Zfp442
|
UTSW |
2 |
150,250,241 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7801:Zfp442
|
UTSW |
2 |
150,251,639 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7814:Zfp442
|
UTSW |
2 |
150,251,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7848:Zfp442
|
UTSW |
2 |
150,253,146 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8158:Zfp442
|
UTSW |
2 |
150,251,096 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8192:Zfp442
|
UTSW |
2 |
150,250,629 (GRCm39) |
missense |
unknown |
|
|
R8528:Zfp442
|
UTSW |
2 |
150,250,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Zfp442
|
UTSW |
2 |
150,250,093 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9269:Zfp442
|
UTSW |
2 |
150,251,287 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9371:Zfp442
|
UTSW |
2 |
150,250,676 (GRCm39) |
missense |
unknown |
|
|
R9401:Zfp442
|
UTSW |
2 |
150,251,615 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9459:Zfp442
|
UTSW |
2 |
150,250,668 (GRCm39) |
missense |
unknown |
|
|
R9711:Zfp442
|
UTSW |
2 |
150,250,207 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp442
|
UTSW |
2 |
150,250,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGAAATGTACAAAGGCTTCACC -3'
(R):5'- ACACTGGTGAGAAGCCATATG -3'
Sequencing Primer
(F):5'- CTCTGAAGATGTCTGACATGCCAAG -3'
(R):5'- GCCATATGAATGTAGTGAATGTGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation