Incidental Mutation 'R2083:Zfp27'
ID |
230147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp27
|
Ensembl Gene |
ENSMUSG00000062040 |
Gene Name |
zinc finger protein 27 |
Synonyms |
Zfp-27, mkr-4 |
MMRRC Submission |
040088-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.611)
|
Stock # |
R2083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29592758-29605997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29594208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 586
(I586V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053521]
[ENSMUST00000159920]
[ENSMUST00000161904]
[ENSMUST00000162592]
[ENSMUST00000172448]
|
AlphaFold |
P10077 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053521
AA Change: I586V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000054012 Gene: ENSMUSG00000062040 AA Change: I586V
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
59 |
2.94e-12 |
SMART |
internal_repeat_2
|
108 |
195 |
4.1e-6 |
PROSPERO |
ZnF_C2H2
|
205 |
227 |
3.11e-2 |
SMART |
ZnF_C2H2
|
233 |
255 |
8.47e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
2.09e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
2.91e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.17e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
4.79e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
7.15e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
3.69e-4 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.08e-1 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.57e-3 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.5e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
1.38e-3 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.03e-2 |
SMART |
ZnF_C2H2
|
597 |
619 |
3.34e-2 |
SMART |
ZnF_C2H2
|
625 |
647 |
8.34e-3 |
SMART |
ZnF_C2H2
|
653 |
675 |
2.36e-2 |
SMART |
ZnF_C2H2
|
681 |
703 |
6.88e-4 |
SMART |
ZnF_C2H2
|
709 |
731 |
2.27e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
6.88e-4 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.72e-4 |
SMART |
ZnF_C2H2
|
793 |
815 |
3.83e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159920
AA Change: I586V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000125232 Gene: ENSMUSG00000062040 AA Change: I586V
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
59 |
2.94e-12 |
SMART |
internal_repeat_2
|
108 |
195 |
4.1e-6 |
PROSPERO |
ZnF_C2H2
|
205 |
227 |
3.11e-2 |
SMART |
ZnF_C2H2
|
233 |
255 |
8.47e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
2.09e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
2.91e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.17e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
4.79e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
7.15e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
3.69e-4 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.08e-1 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.57e-3 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.5e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
1.38e-3 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.03e-2 |
SMART |
ZnF_C2H2
|
597 |
619 |
3.34e-2 |
SMART |
ZnF_C2H2
|
625 |
647 |
8.34e-3 |
SMART |
ZnF_C2H2
|
653 |
675 |
2.36e-2 |
SMART |
ZnF_C2H2
|
681 |
703 |
6.88e-4 |
SMART |
ZnF_C2H2
|
709 |
731 |
2.27e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
6.88e-4 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.72e-4 |
SMART |
ZnF_C2H2
|
793 |
815 |
3.83e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161904
AA Change: I586V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124684 Gene: ENSMUSG00000062040 AA Change: I586V
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
59 |
2.94e-12 |
SMART |
internal_repeat_2
|
108 |
195 |
4.1e-6 |
PROSPERO |
ZnF_C2H2
|
205 |
227 |
3.11e-2 |
SMART |
ZnF_C2H2
|
233 |
255 |
8.47e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
2.09e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
2.91e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.17e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
4.79e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
7.15e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
3.69e-4 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.08e-1 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.57e-3 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.5e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
1.38e-3 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.03e-2 |
SMART |
ZnF_C2H2
|
597 |
619 |
3.34e-2 |
SMART |
ZnF_C2H2
|
625 |
647 |
8.34e-3 |
SMART |
ZnF_C2H2
|
653 |
675 |
2.36e-2 |
SMART |
ZnF_C2H2
|
681 |
703 |
6.88e-4 |
SMART |
ZnF_C2H2
|
709 |
731 |
2.27e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
6.88e-4 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.72e-4 |
SMART |
ZnF_C2H2
|
793 |
815 |
3.83e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162592
AA Change: I586V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000123953 Gene: ENSMUSG00000062040 AA Change: I586V
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
59 |
2.94e-12 |
SMART |
internal_repeat_2
|
108 |
195 |
4.1e-6 |
PROSPERO |
ZnF_C2H2
|
205 |
227 |
3.11e-2 |
SMART |
ZnF_C2H2
|
233 |
255 |
8.47e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
2.09e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
2.91e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.17e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
4.79e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
7.15e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
3.69e-4 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.08e-1 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.57e-3 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.5e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
1.38e-3 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.03e-2 |
SMART |
ZnF_C2H2
|
597 |
619 |
3.34e-2 |
SMART |
ZnF_C2H2
|
625 |
647 |
8.34e-3 |
SMART |
ZnF_C2H2
|
653 |
675 |
2.36e-2 |
SMART |
ZnF_C2H2
|
681 |
703 |
6.88e-4 |
SMART |
ZnF_C2H2
|
709 |
731 |
2.27e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
6.88e-4 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.72e-4 |
SMART |
ZnF_C2H2
|
793 |
815 |
3.83e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172448
AA Change: I586V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127677 Gene: ENSMUSG00000062040 AA Change: I586V
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
59 |
2.94e-12 |
SMART |
internal_repeat_2
|
108 |
195 |
4.1e-6 |
PROSPERO |
ZnF_C2H2
|
205 |
227 |
3.11e-2 |
SMART |
ZnF_C2H2
|
233 |
255 |
8.47e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
2.09e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
2.91e-2 |
SMART |
ZnF_C2H2
|
317 |
339 |
4.17e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
4.79e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
7.15e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
3.69e-4 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.08e-1 |
SMART |
ZnF_C2H2
|
485 |
507 |
2.57e-3 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.5e-4 |
SMART |
ZnF_C2H2
|
541 |
563 |
1.38e-3 |
SMART |
ZnF_C2H2
|
569 |
591 |
1.03e-2 |
SMART |
ZnF_C2H2
|
597 |
619 |
3.34e-2 |
SMART |
ZnF_C2H2
|
625 |
647 |
8.34e-3 |
SMART |
ZnF_C2H2
|
653 |
675 |
2.36e-2 |
SMART |
ZnF_C2H2
|
681 |
703 |
6.88e-4 |
SMART |
ZnF_C2H2
|
709 |
731 |
2.27e-4 |
SMART |
ZnF_C2H2
|
737 |
759 |
6.88e-4 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.72e-4 |
SMART |
ZnF_C2H2
|
793 |
815 |
3.83e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
Acsl3 |
A |
T |
1: 78,677,528 (GRCm39) |
K507N |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,596,945 (GRCm39) |
I12N |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
Klhl22 |
A |
G |
16: 17,594,389 (GRCm39) |
T173A |
probably benign |
Het |
Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
Tas1r1 |
T |
A |
4: 152,112,848 (GRCm39) |
H735L |
probably benign |
Het |
Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
Zfyve16 |
T |
C |
13: 92,660,770 (GRCm39) |
D13G |
probably damaging |
Het |
|
Other mutations in Zfp27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Zfp27
|
APN |
7 |
29,594,383 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02490:Zfp27
|
APN |
7 |
29,594,360 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02899:Zfp27
|
APN |
7 |
29,595,680 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0179:Zfp27
|
UTSW |
7 |
29,595,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0234:Zfp27
|
UTSW |
7 |
29,593,532 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0234:Zfp27
|
UTSW |
7 |
29,593,532 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0511:Zfp27
|
UTSW |
7 |
29,593,947 (GRCm39) |
missense |
probably damaging |
0.97 |
R1185:Zfp27
|
UTSW |
7 |
29,595,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1185:Zfp27
|
UTSW |
7 |
29,595,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1185:Zfp27
|
UTSW |
7 |
29,595,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1294:Zfp27
|
UTSW |
7 |
29,595,737 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1581:Zfp27
|
UTSW |
7 |
29,595,549 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1763:Zfp27
|
UTSW |
7 |
29,594,801 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2217:Zfp27
|
UTSW |
7 |
29,595,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2696:Zfp27
|
UTSW |
7 |
29,595,792 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4084:Zfp27
|
UTSW |
7 |
29,594,792 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4864:Zfp27
|
UTSW |
7 |
29,594,261 (GRCm39) |
missense |
probably damaging |
0.99 |
R6057:Zfp27
|
UTSW |
7 |
29,594,444 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6063:Zfp27
|
UTSW |
7 |
29,593,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R6553:Zfp27
|
UTSW |
7 |
29,595,818 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6585:Zfp27
|
UTSW |
7 |
29,595,818 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6800:Zfp27
|
UTSW |
7 |
29,593,860 (GRCm39) |
missense |
probably benign |
0.19 |
R7051:Zfp27
|
UTSW |
7 |
29,594,446 (GRCm39) |
small deletion |
probably benign |
|
R7052:Zfp27
|
UTSW |
7 |
29,594,446 (GRCm39) |
small deletion |
probably benign |
|
R7066:Zfp27
|
UTSW |
7 |
29,594,446 (GRCm39) |
small deletion |
probably benign |
|
R7106:Zfp27
|
UTSW |
7 |
29,594,446 (GRCm39) |
small deletion |
probably benign |
|
R7432:Zfp27
|
UTSW |
7 |
29,594,784 (GRCm39) |
missense |
probably benign |
0.33 |
R7473:Zfp27
|
UTSW |
7 |
29,595,324 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7670:Zfp27
|
UTSW |
7 |
29,594,221 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7739:Zfp27
|
UTSW |
7 |
29,593,699 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7817:Zfp27
|
UTSW |
7 |
29,595,815 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8750:Zfp27
|
UTSW |
7 |
29,594,804 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8819:Zfp27
|
UTSW |
7 |
29,594,013 (GRCm39) |
missense |
probably benign |
0.15 |
R8820:Zfp27
|
UTSW |
7 |
29,594,013 (GRCm39) |
missense |
probably benign |
0.15 |
R9189:Zfp27
|
UTSW |
7 |
29,595,359 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9511:Zfp27
|
UTSW |
7 |
29,593,641 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9705:Zfp27
|
UTSW |
7 |
29,595,342 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Zfp27
|
UTSW |
7 |
29,595,657 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1177:Zfp27
|
UTSW |
7 |
29,594,586 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGACCTGCCGCTAAAGG -3'
(R):5'- AAAGGGCACACTTGGATGC -3'
Sequencing Primer
(F):5'- GCACACACGTAAGGTTTCTCG -3'
(R):5'- ACCCTATGTGTGCAGTAACTG -3'
|
Posted On |
2014-09-18 |