Incidental Mutation 'R2411:Zfp160'
| ID |
250014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp160
|
| Ensembl Gene |
ENSMUSG00000067942 |
| Gene Name |
zinc finger protein 160 |
| Synonyms |
6720480D16Rik, 6720480D16Rik |
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21229203-21249119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21246007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 186
(R186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088811]
[ENSMUST00000231482]
[ENSMUST00000232320]
[ENSMUST00000232354]
[ENSMUST00000232473]
[ENSMUST00000232595]
[ENSMUST00000232663]
|
| AlphaFold |
E9Q459 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088811
AA Change: R186C
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086191
Gene: ENSMUSG00000067942
AA Change: R186C
| 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 |
probably benign
Transcript: ENSMUST00000231482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232320
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232354
AA Change: R186C
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232663
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
|
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 |
|
R5342:Zfp160
|
UTSW |
17 |
21,240,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- TCTGACAAAATTCTTGCTAGTGGTG -3'
(R):5'- TGAACGAACACTAAAGGCTTTGC -3'
Sequencing Primer
(F):5'- GTGACAAAGCACCTGTTGTTC -3'
(R):5'- GCCACAATGATTGCACTTGAATGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation