Incidental Mutation 'R6585:Zfp27'
| ID |
524340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp27
|
| Ensembl Gene |
ENSMUSG00000062040 |
| Gene Name |
zinc finger protein 27 |
| Synonyms |
Zfp-27, mkr-4 |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.611)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29592758-29605997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29595818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 49
(T49I)
|
| 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: T49I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: T49I
| 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: T49I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: T49I
| 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: T49I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: T49I
| 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: T49I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: T49I
| 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: T49I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: T49I
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
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 |
|
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 |
|
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'- TCTGTAAATCTGAACTATGCTTCGG -3'
(R):5'- TGTGTGCTCTGACAGACACC -3'
Sequencing Primer
(F):5'- AAATCTGAACTATGCTTCGGCTCATC -3'
(R):5'- TGACAGACACCTTGCTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation