Incidental Mutation 'R6511:Zfp2'
ID |
519924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp2
|
Ensembl Gene |
ENSMUSG00000049321 |
Gene Name |
zinc finger protein 2 |
Synonyms |
Fnp-2, 9930007F06Rik, Zfp-2, mkr-2 |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
50789539-50806992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50791234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 270
(C270S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109128]
[ENSMUST00000109129]
[ENSMUST00000116378]
|
AlphaFold |
P08043 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109128
AA Change: C270S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104756 Gene: ENSMUSG00000049321 AA Change: C270S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
100 |
122 |
4.87e-4 |
SMART |
ZnF_C2H2
|
128 |
150 |
1.04e-3 |
SMART |
ZnF_C2H2
|
156 |
178 |
5.59e-4 |
SMART |
ZnF_C2H2
|
184 |
206 |
3.69e-4 |
SMART |
ZnF_C2H2
|
212 |
234 |
9.08e-4 |
SMART |
ZnF_C2H2
|
240 |
262 |
1.04e-3 |
SMART |
ZnF_C2H2
|
268 |
290 |
1.58e-3 |
SMART |
ZnF_C2H2
|
296 |
318 |
2.27e-4 |
SMART |
ZnF_C2H2
|
324 |
346 |
9.08e-4 |
SMART |
ZnF_C2H2
|
352 |
374 |
1.38e-3 |
SMART |
ZnF_C2H2
|
380 |
402 |
2.43e-4 |
SMART |
ZnF_C2H2
|
408 |
430 |
1.95e-3 |
SMART |
ZnF_C2H2
|
436 |
458 |
2.15e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109129
AA Change: C270S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104757 Gene: ENSMUSG00000049321 AA Change: C270S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
100 |
122 |
4.87e-4 |
SMART |
ZnF_C2H2
|
128 |
150 |
1.04e-3 |
SMART |
ZnF_C2H2
|
156 |
178 |
5.59e-4 |
SMART |
ZnF_C2H2
|
184 |
206 |
3.69e-4 |
SMART |
ZnF_C2H2
|
212 |
234 |
9.08e-4 |
SMART |
ZnF_C2H2
|
240 |
262 |
1.04e-3 |
SMART |
ZnF_C2H2
|
268 |
290 |
1.58e-3 |
SMART |
ZnF_C2H2
|
296 |
318 |
2.27e-4 |
SMART |
ZnF_C2H2
|
324 |
346 |
9.08e-4 |
SMART |
ZnF_C2H2
|
352 |
374 |
1.38e-3 |
SMART |
ZnF_C2H2
|
380 |
402 |
2.43e-4 |
SMART |
ZnF_C2H2
|
408 |
430 |
1.95e-3 |
SMART |
ZnF_C2H2
|
436 |
458 |
2.15e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116378
AA Change: C270S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112079 Gene: ENSMUSG00000049321 AA Change: C270S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
100 |
122 |
4.87e-4 |
SMART |
ZnF_C2H2
|
128 |
150 |
1.04e-3 |
SMART |
ZnF_C2H2
|
156 |
178 |
5.59e-4 |
SMART |
ZnF_C2H2
|
184 |
206 |
3.69e-4 |
SMART |
ZnF_C2H2
|
212 |
234 |
9.08e-4 |
SMART |
ZnF_C2H2
|
240 |
262 |
1.04e-3 |
SMART |
ZnF_C2H2
|
268 |
290 |
1.58e-3 |
SMART |
ZnF_C2H2
|
296 |
318 |
2.27e-4 |
SMART |
ZnF_C2H2
|
324 |
346 |
9.08e-4 |
SMART |
ZnF_C2H2
|
352 |
374 |
1.38e-3 |
SMART |
ZnF_C2H2
|
380 |
402 |
2.43e-4 |
SMART |
ZnF_C2H2
|
408 |
430 |
1.95e-3 |
SMART |
ZnF_C2H2
|
436 |
458 |
2.15e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150903
|
Meta Mutation Damage Score |
0.8413 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
|
Other mutations in Zfp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02093:Zfp2
|
APN |
11 |
50,791,831 (GRCm39) |
missense |
probably benign |
0.00 |
inanes
|
UTSW |
11 |
50,791,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Zfp2
|
UTSW |
11 |
50,791,734 (GRCm39) |
missense |
probably benign |
0.00 |
R1851:Zfp2
|
UTSW |
11 |
50,791,915 (GRCm39) |
missense |
probably benign |
0.06 |
R1938:Zfp2
|
UTSW |
11 |
50,790,809 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2084:Zfp2
|
UTSW |
11 |
50,791,789 (GRCm39) |
missense |
probably benign |
|
R3859:Zfp2
|
UTSW |
11 |
50,790,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4899:Zfp2
|
UTSW |
11 |
50,790,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Zfp2
|
UTSW |
11 |
50,792,068 (GRCm39) |
start gained |
probably benign |
|
R5511:Zfp2
|
UTSW |
11 |
50,790,851 (GRCm39) |
missense |
probably damaging |
0.97 |
R5583:Zfp2
|
UTSW |
11 |
50,790,984 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6358:Zfp2
|
UTSW |
11 |
50,791,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R7290:Zfp2
|
UTSW |
11 |
50,791,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R7740:Zfp2
|
UTSW |
11 |
50,791,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R8534:Zfp2
|
UTSW |
11 |
50,791,627 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8894:Zfp2
|
UTSW |
11 |
50,791,843 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9375:Zfp2
|
UTSW |
11 |
50,791,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTTTCCACACTGATTGCA -3'
(R):5'- GGCAGAGTTCATCCCTGCTT -3'
Sequencing Primer
(F):5'- GCATTCAAAAGGTTTCACTCCGGAG -3'
(R):5'- CCCTACAAATGTCATGAGTGTGG -3'
|
Posted On |
2018-06-06 |