Incidental Mutation 'R1576:Zfp879'
| ID |
171175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp879
|
| Ensembl Gene |
ENSMUSG00000044296 |
| Gene Name |
zinc finger protein 879 |
| Synonyms |
9630041N07Rik |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50722858-50732379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50724376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 227
(T227S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049625]
[ENSMUST00000109133]
[ENSMUST00000109134]
|
| AlphaFold |
Q8BI99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049625
AA Change: T227S
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000061782
Gene: ENSMUSG00000044296
AA Change: T227S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.54e-33 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
260 |
282 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
512 |
534 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
540 |
562 |
5.21e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109133
AA Change: T154S
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104761
Gene: ENSMUSG00000044296
AA Change: T154S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
131 |
153 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
5.21e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109134
AA Change: T227S
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104762
Gene: ENSMUSG00000044296
AA Change: T227S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.54e-33 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
260 |
282 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
512 |
534 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
540 |
562 |
5.21e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1038 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
|
| Other mutations in Zfp879 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01659:Zfp879
|
APN |
11 |
50,729,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02175:Zfp879
|
APN |
11 |
50,728,743 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02259:Zfp879
|
APN |
11 |
50,729,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
Bazooka
|
UTSW |
11 |
50,729,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
joe
|
UTSW |
11 |
50,724,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Zfp879
|
UTSW |
11 |
50,724,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Zfp879
|
UTSW |
11 |
50,724,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1616:Zfp879
|
UTSW |
11 |
50,723,473 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1701:Zfp879
|
UTSW |
11 |
50,724,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1965:Zfp879
|
UTSW |
11 |
50,724,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Zfp879
|
UTSW |
11 |
50,723,428 (GRCm39) |
missense |
probably benign |
|
|
R2058:Zfp879
|
UTSW |
11 |
50,723,428 (GRCm39) |
missense |
probably benign |
|
|
R2219:Zfp879
|
UTSW |
11 |
50,724,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Zfp879
|
UTSW |
11 |
50,723,989 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3112:Zfp879
|
UTSW |
11 |
50,723,989 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4658:Zfp879
|
UTSW |
11 |
50,724,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Zfp879
|
UTSW |
11 |
50,724,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Zfp879
|
UTSW |
11 |
50,728,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Zfp879
|
UTSW |
11 |
50,729,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6930:Zfp879
|
UTSW |
11 |
50,723,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Zfp879
|
UTSW |
11 |
50,724,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7186:Zfp879
|
UTSW |
11 |
50,724,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7218:Zfp879
|
UTSW |
11 |
50,723,508 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8138:Zfp879
|
UTSW |
11 |
50,724,275 (GRCm39) |
nonsense |
probably null |
|
|
R8445:Zfp879
|
UTSW |
11 |
50,724,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Zfp879
|
UTSW |
11 |
50,728,757 (GRCm39) |
missense |
probably benign |
|
|
R8725:Zfp879
|
UTSW |
11 |
50,729,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8790:Zfp879
|
UTSW |
11 |
50,723,429 (GRCm39) |
nonsense |
probably null |
|
|
R8882:Zfp879
|
UTSW |
11 |
50,724,763 (GRCm39) |
nonsense |
probably null |
|
|
R9229:Zfp879
|
UTSW |
11 |
50,723,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Zfp879
|
UTSW |
11 |
50,723,914 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Zfp879
|
UTSW |
11 |
50,724,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCTGCTCAGCCGTGATATTGA -3'
(R):5'- TTTCGTAGGAAACCTGGAGTTGCC -3'
Sequencing Primer
(F):5'- gtcttgccacattccttacattc -3'
(R):5'- CCCACTTACAGCAGTACTCAGTT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation