Incidental Mutation 'R5342:Zfp160'
| ID |
422412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp160
|
| Ensembl Gene |
ENSMUSG00000067942 |
| Gene Name |
zinc finger protein 160 |
| Synonyms |
6720480D16Rik, 6720480D16Rik |
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5342 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21229203-21249119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21240995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 21
(M21R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088811]
[ENSMUST00000231482]
[ENSMUST00000232320]
[ENSMUST00000232354]
[ENSMUST00000232473]
[ENSMUST00000232595]
[ENSMUST00000232663]
|
| AlphaFold |
E9Q459 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088811
AA Change: M57R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086191
Gene: ENSMUSG00000067942
AA Change: M57R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
1.91e-29 |
SMART |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
146 |
168 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
538 |
560 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
566 |
588 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
594 |
616 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
622 |
644 |
1.13e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231482
AA Change: M21R
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232320
AA Change: M57R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232354
AA Change: M57R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232473
AA Change: M21R
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232595
AA Change: M57R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232663
AA Change: M57R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
|
| Other mutations in Zfp160 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Zfp160
|
APN |
17 |
21,246,964 (GRCm39) |
missense |
probably benign |
|
|
IGL01019:Zfp160
|
APN |
17 |
21,241,088 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02430:Zfp160
|
APN |
17 |
21,245,792 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0412:Zfp160
|
UTSW |
17 |
21,247,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0600:Zfp160
|
UTSW |
17 |
21,247,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2146:Zfp160
|
UTSW |
17 |
21,247,244 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2157:Zfp160
|
UTSW |
17 |
21,241,090 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2411:Zfp160
|
UTSW |
17 |
21,246,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2904:Zfp160
|
UTSW |
17 |
21,245,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4249:Zfp160
|
UTSW |
17 |
21,246,000 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4896:Zfp160
|
UTSW |
17 |
21,240,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5106:Zfp160
|
UTSW |
17 |
21,247,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Zfp160
|
UTSW |
17 |
21,247,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6193:Zfp160
|
UTSW |
17 |
21,247,124 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6230:Zfp160
|
UTSW |
17 |
21,246,707 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6753:Zfp160
|
UTSW |
17 |
21,240,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6928:Zfp160
|
UTSW |
17 |
21,261,724 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7040:Zfp160
|
UTSW |
17 |
21,246,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Zfp160
|
UTSW |
17 |
21,245,749 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7497:Zfp160
|
UTSW |
17 |
21,246,455 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7510:Zfp160
|
UTSW |
17 |
21,246,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Zfp160
|
UTSW |
17 |
21,245,922 (GRCm39) |
nonsense |
probably null |
|
|
R7627:Zfp160
|
UTSW |
17 |
21,247,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8169:Zfp160
|
UTSW |
17 |
21,247,298 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8240:Zfp160
|
UTSW |
17 |
21,246,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8330:Zfp160
|
UTSW |
17 |
21,246,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8367:Zfp160
|
UTSW |
17 |
21,245,804 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8802:Zfp160
|
UTSW |
17 |
21,246,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Zfp160
|
UTSW |
17 |
21,240,354 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9556:Zfp160
|
UTSW |
17 |
21,247,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9695:Zfp160
|
UTSW |
17 |
21,245,746 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Zfp160
|
UTSW |
17 |
21,247,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATTAAGCTCCCAGAAGG -3'
(R):5'- GCACCACATGAGGGTGAATG -3'
Sequencing Primer
(F):5'- TCCCAGAAGGAGGCATTCAGTG -3'
(R):5'- AGTGGCAGACTTATTTCTCACTGAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation