Incidental Mutation 'R2030:Zfp442'
| ID |
221102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp442
|
| Ensembl Gene |
ENSMUSG00000068130 |
| Gene Name |
zinc finger protein 442 |
| Synonyms |
OTTMUSG00000015730 |
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150249061-150293406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150250042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 620
(V620E)
|
| 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: V620E
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: V620E
| 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: V563E
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: V563E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
| Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably 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 |
|
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 |
|
R5476:Zfp442
|
UTSW |
2 |
150,250,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTGGTAAAGCGTTTGTACTTCACAG -3'
Sequencing Primer
(F):5'- AATGTTTCTTTAGTGCTCTGAAGATG -3'
(R):5'- AGCGTTTGTACTTCACAGTTATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation