Incidental Mutation 'R6787:Zfp442'
| ID |
532418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp442
|
| Ensembl Gene |
ENSMUSG00000068130 |
| Gene Name |
zinc finger protein 442 |
| Synonyms |
OTTMUSG00000015730 |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150407141-150451486 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150409579 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 134
(N134K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109916]
[ENSMUST00000185796]
|
| AlphaFold |
A2AQA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109916
AA Change: N134K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: N134K
| 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 benign
Transcript: ENSMUST00000185796
AA Change: N133K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: N133K
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,079,983 (GRCm38) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 60,853,108 (GRCm38) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 120,010,682 (GRCm38) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,835,415 (GRCm38) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,722,589 (GRCm38) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 177,050,190 (GRCm38) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,498,890 (GRCm38) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,455,346 (GRCm38) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 124,616,185 (GRCm38) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,057,926 (GRCm38) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,608 (GRCm38) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,663,659 (GRCm38) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,044,689 (GRCm38) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,515,244 (GRCm38) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,657,519 (GRCm38) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,262,921 (GRCm38) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,654,323 (GRCm38) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,271,772 (GRCm38) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 69,813,786 (GRCm38) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,537,838 (GRCm38) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,363,912 (GRCm38) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,155,249 (GRCm38) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,289,265 (GRCm38) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,295,325 (GRCm38) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,275,739 (GRCm38) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 67,784,025 (GRCm38) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,714,154 (GRCm38) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,369,794 (GRCm38) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,261,027 (GRCm38) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 12,876,987 (GRCm38) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,320,653 (GRCm38) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,738,798 (GRCm38) |
I391L |
possibly damaging |
Het |
| Olfr1242 |
T |
A |
2: 89,494,034 (GRCm38) |
R93* |
probably null |
Het |
| Olfr18 |
T |
C |
9: 20,335,925 (GRCm38) |
D14G |
probably benign |
Het |
| Olfr497 |
T |
C |
7: 108,422,682 (GRCm38) |
I37T |
possibly damaging |
Het |
| Olfr803 |
T |
A |
10: 129,691,522 (GRCm38) |
D173V |
possibly damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,642,638 (GRCm38) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,508,997 (GRCm38) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,628,625 (GRCm38) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,857,637 (GRCm38) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,976,190 (GRCm38) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,706,232 (GRCm38) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,998,534 (GRCm38) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,842,749 (GRCm38) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,936,487 (GRCm38) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,611,299 (GRCm38) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,919,084 (GRCm38) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,902,996 (GRCm38) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,835,249 (GRCm38) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,710,736 (GRCm38) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,560,307 (GRCm38) |
I363N |
probably damaging |
Het |
|
| Other mutations in Zfp442 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Zfp442
|
APN |
2 |
150,409,347 (GRCm38) |
nonsense |
probably null |
|
|
IGL02566:Zfp442
|
APN |
2 |
150,409,791 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03217:Zfp442
|
APN |
2 |
150,409,794 (GRCm38) |
splice site |
probably benign |
|
|
LCD18:Zfp442
|
UTSW |
2 |
150,419,848 (GRCm38) |
intron |
probably benign |
|
|
PIT4812001:Zfp442
|
UTSW |
2 |
150,409,741 (GRCm38) |
nonsense |
probably null |
|
|
R0219:Zfp442
|
UTSW |
2 |
150,411,240 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0521:Zfp442
|
UTSW |
2 |
150,411,249 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1633:Zfp442
|
UTSW |
2 |
150,408,340 (GRCm38) |
nonsense |
probably null |
|
|
R1702:Zfp442
|
UTSW |
2 |
150,409,180 (GRCm38) |
nonsense |
probably null |
|
|
R1829:Zfp442
|
UTSW |
2 |
150,409,063 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1868:Zfp442
|
UTSW |
2 |
150,408,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1898:Zfp442
|
UTSW |
2 |
150,408,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Zfp442
|
UTSW |
2 |
150,408,122 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4676:Zfp442
|
UTSW |
2 |
150,409,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4717:Zfp442
|
UTSW |
2 |
150,408,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4894:Zfp442
|
UTSW |
2 |
150,411,210 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4932:Zfp442
|
UTSW |
2 |
150,409,715 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4963:Zfp442
|
UTSW |
2 |
150,408,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5130:Zfp442
|
UTSW |
2 |
150,409,610 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5476:Zfp442
|
UTSW |
2 |
150,408,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5986:Zfp442
|
UTSW |
2 |
150,408,024 (GRCm38) |
nonsense |
probably null |
|
|
R6042:Zfp442
|
UTSW |
2 |
150,408,096 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6383:Zfp442
|
UTSW |
2 |
150,451,401 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6452:Zfp442
|
UTSW |
2 |
150,408,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6931:Zfp442
|
UTSW |
2 |
150,410,940 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7061:Zfp442
|
UTSW |
2 |
150,408,017 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7184:Zfp442
|
UTSW |
2 |
150,408,136 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7214:Zfp442
|
UTSW |
2 |
150,409,281 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7225:Zfp442
|
UTSW |
2 |
150,409,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7513:Zfp442
|
UTSW |
2 |
150,408,756 (GRCm38) |
missense |
unknown |
|
|
R7591:Zfp442
|
UTSW |
2 |
150,408,172 (GRCm38) |
nonsense |
probably null |
|
|
R7679:Zfp442
|
UTSW |
2 |
150,410,997 (GRCm38) |
nonsense |
probably null |
|
|
R7768:Zfp442
|
UTSW |
2 |
150,408,321 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7801:Zfp442
|
UTSW |
2 |
150,409,719 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7814:Zfp442
|
UTSW |
2 |
150,409,482 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7848:Zfp442
|
UTSW |
2 |
150,411,226 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8158:Zfp442
|
UTSW |
2 |
150,409,176 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8192:Zfp442
|
UTSW |
2 |
150,408,709 (GRCm38) |
missense |
unknown |
|
|
R8528:Zfp442
|
UTSW |
2 |
150,409,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9110:Zfp442
|
UTSW |
2 |
150,408,173 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9269:Zfp442
|
UTSW |
2 |
150,409,367 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9371:Zfp442
|
UTSW |
2 |
150,408,756 (GRCm38) |
missense |
unknown |
|
|
R9401:Zfp442
|
UTSW |
2 |
150,409,695 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9459:Zfp442
|
UTSW |
2 |
150,408,748 (GRCm38) |
missense |
unknown |
|
|
R9711:Zfp442
|
UTSW |
2 |
150,408,287 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp442
|
UTSW |
2 |
150,408,479 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTTCTCTCCAGTATGCG -3'
(R):5'- CACATGTACCAATTATCTTTGCAGG -3'
Sequencing Primer
(F):5'- GTATAACATGCAAAGTCTTTTCCAC -3'
(R):5'- ACCCTCTGAATTTACTCAATGTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation