Incidental Mutation 'R6585:Zfp27'
| ID |
524340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp27
|
| Ensembl Gene |
ENSMUSG00000062040 |
| Gene Name |
zinc finger protein 27 |
| Synonyms |
mkr-4, Zfp-27 |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29893333-29906572 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29896393 bp (GRCm38)
|
| 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: 109,737,668 (GRCm38) |
C108Y |
probably damaging |
Het |
| AA792892 |
C |
T |
5: 94,381,556 (GRCm38) |
P62S |
probably benign |
Het |
| Adam1b |
G |
T |
5: 121,501,187 (GRCm38) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 35,995,626 (GRCm38) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,842,177 (GRCm38) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,597,772 (GRCm38) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,511,745 (GRCm38) |
V628E |
probably benign |
Het |
| Dis3l2 |
T |
A |
1: 86,745,494 (GRCm38) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,625,549 (GRCm38) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 28,113,979 (GRCm38) |
Q2313L |
possibly damaging |
Het |
| Gm14851 |
A |
G |
8: 21,095,232 (GRCm38) |
C65R |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,349,645 (GRCm38) |
I157N |
probably damaging |
Het |
| Hist2h2bb |
A |
T |
3: 96,270,097 (GRCm38) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,397,261 (GRCm38) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,419,257 (GRCm38) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,507,558 (GRCm38) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,303,645 (GRCm38) |
Q516H |
unknown |
Het |
| Nprl3 |
C |
T |
11: 32,234,812 (GRCm38) |
R399Q |
probably benign |
Het |
| Olfr273 |
A |
T |
4: 52,856,192 (GRCm38) |
M107K |
possibly damaging |
Het |
| Olfr290 |
A |
T |
7: 84,916,462 (GRCm38) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,905,264 (GRCm38) |
Q80K |
probably benign |
Het |
| Pramef20 |
C |
A |
4: 144,377,030 (GRCm38) |
L175F |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 150,103,987 (GRCm38) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,506,663 (GRCm38) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,374,422 (GRCm38) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,178,685 (GRCm38) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,472,071 (GRCm38) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,031,125 (GRCm38) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,499,727 (GRCm38) |
L1165F |
probably damaging |
Het |
|
| Other mutations in Zfp27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Zfp27
|
APN |
7 |
29,894,958 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02490:Zfp27
|
APN |
7 |
29,894,935 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02899:Zfp27
|
APN |
7 |
29,896,255 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0179:Zfp27
|
UTSW |
7 |
29,896,425 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0234:Zfp27
|
UTSW |
7 |
29,894,107 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0234:Zfp27
|
UTSW |
7 |
29,894,107 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0511:Zfp27
|
UTSW |
7 |
29,894,522 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1185:Zfp27
|
UTSW |
7 |
29,895,829 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1185:Zfp27
|
UTSW |
7 |
29,895,829 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1185:Zfp27
|
UTSW |
7 |
29,895,829 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1294:Zfp27
|
UTSW |
7 |
29,896,312 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1581:Zfp27
|
UTSW |
7 |
29,896,124 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1763:Zfp27
|
UTSW |
7 |
29,895,376 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2083:Zfp27
|
UTSW |
7 |
29,894,783 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2217:Zfp27
|
UTSW |
7 |
29,896,111 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2696:Zfp27
|
UTSW |
7 |
29,896,367 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4084:Zfp27
|
UTSW |
7 |
29,895,367 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4864:Zfp27
|
UTSW |
7 |
29,894,836 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6057:Zfp27
|
UTSW |
7 |
29,895,019 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6063:Zfp27
|
UTSW |
7 |
29,894,302 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6553:Zfp27
|
UTSW |
7 |
29,896,393 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6800:Zfp27
|
UTSW |
7 |
29,894,435 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7051:Zfp27
|
UTSW |
7 |
29,895,021 (GRCm38) |
small deletion |
probably benign |
|
|
R7052:Zfp27
|
UTSW |
7 |
29,895,021 (GRCm38) |
small deletion |
probably benign |
|
|
R7066:Zfp27
|
UTSW |
7 |
29,895,021 (GRCm38) |
small deletion |
probably benign |
|
|
R7106:Zfp27
|
UTSW |
7 |
29,895,021 (GRCm38) |
small deletion |
probably benign |
|
|
R7432:Zfp27
|
UTSW |
7 |
29,895,359 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7473:Zfp27
|
UTSW |
7 |
29,895,899 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7670:Zfp27
|
UTSW |
7 |
29,894,796 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7739:Zfp27
|
UTSW |
7 |
29,894,274 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7817:Zfp27
|
UTSW |
7 |
29,896,390 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8750:Zfp27
|
UTSW |
7 |
29,895,379 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8819:Zfp27
|
UTSW |
7 |
29,894,588 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8820:Zfp27
|
UTSW |
7 |
29,894,588 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9189:Zfp27
|
UTSW |
7 |
29,895,934 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R9511:Zfp27
|
UTSW |
7 |
29,894,216 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9705:Zfp27
|
UTSW |
7 |
29,895,917 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp27
|
UTSW |
7 |
29,896,232 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
Z1177:Zfp27
|
UTSW |
7 |
29,895,161 (GRCm38) |
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