Incidental Mutation 'R7801:Zfp442'
ID |
600513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp442
|
Ensembl Gene |
ENSMUSG00000068130 |
Gene Name |
zinc finger protein 442 |
Synonyms |
OTTMUSG00000015730 |
MMRRC Submission |
045856-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R7801 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
150249061-150293406 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150251639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 88
(S88G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109916]
[ENSMUST00000185796]
|
AlphaFold |
A2AQA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109916
AA Change: S88G
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105542 Gene: ENSMUSG00000068130 AA Change: S88G
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: S87G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000140098 Gene: ENSMUSG00000068130 AA Change: S87G
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,558,207 (GRCm39) |
Y165C |
probably damaging |
Het |
Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
Ccne2 |
T |
C |
4: 11,194,079 (GRCm39) |
|
probably null |
Het |
Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
Phlpp2 |
T |
G |
8: 110,652,474 (GRCm39) |
V606G |
possibly damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
Samd3 |
G |
T |
10: 26,139,770 (GRCm39) |
V301F |
possibly damaging |
Het |
Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
Zfp677 |
T |
A |
17: 21,618,277 (GRCm39) |
S445T |
probably damaging |
Het |
Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
probably benign |
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 |
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 |
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'- TCTCTCCAGTATGCGTTCTTTGATATA -3'
(R):5'- ACAGCCCATTGTGAAGGTGA -3'
Sequencing Primer
(F):5'- CTGTGTTGTGCAAAGTCAGTACCAC -3'
(R):5'- GGTGAACACCATGAATGTAA -3'
|
Posted On |
2019-11-26 |