Incidental Mutation 'R1185:Zfp27'
| ID |
165251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp27
|
| Ensembl Gene |
ENSMUSG00000062040 |
| Gene Name |
zinc finger protein 27 |
| Synonyms |
Zfp-27, mkr-4 |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.611)
|
| Stock # |
R1185 (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 29595254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053521]
[ENSMUST00000159920]
[ENSMUST00000161904]
[ENSMUST00000162592]
[ENSMUST00000172448]
|
| AlphaFold |
P10077 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053521
AA Change: D237G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: D237G
| 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 |
possibly damaging
Transcript: ENSMUST00000159920
AA Change: D237G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: D237G
| 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 |
noncoding transcript
Transcript: ENSMUST00000160411
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161904
AA Change: D237G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: D237G
| 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 |
possibly damaging
Transcript: ENSMUST00000162592
AA Change: D237G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: D237G
| 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 |
possibly damaging
Transcript: ENSMUST00000172448
AA Change: D237G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: D237G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.3%
- 10x: 93.0%
- 20x: 79.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
|
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 |
|
R2083:Zfp27
|
UTSW |
7 |
29,594,208 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- CTGGTGGACCAGGAGTTGGGAC -3'
(R):5'- CCCACCTGAGGATGAGCCGAAG -3'
Sequencing Primer
(F):5'- tttgccacagccgtcac -3'
(R):5'- cggaccataatcaatgtggaaaag -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation