Incidental Mutation 'R2217:Zfp27'
ID |
241208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp27
|
Ensembl Gene |
ENSMUSG00000062040 |
Gene Name |
zinc finger protein 27 |
Synonyms |
Zfp-27, mkr-4 |
MMRRC Submission |
040219-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.611)
|
Stock # |
R2217 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29592758-29605997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29595536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 143
(L143P)
|
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: L143P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000054012 Gene: ENSMUSG00000062040 AA Change: L143P
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: L143P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125232 Gene: ENSMUSG00000062040 AA Change: L143P
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: L143P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124684 Gene: ENSMUSG00000062040 AA Change: L143P
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: L143P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123953 Gene: ENSMUSG00000062040 AA Change: L143P
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: L143P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127677 Gene: ENSMUSG00000062040 AA Change: L143P
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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,709,128 (GRCm39) |
K232E |
probably benign |
Het |
Apba1 |
T |
C |
19: 23,871,326 (GRCm39) |
M386T |
probably damaging |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,647,368 (GRCm39) |
Y809C |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,560,478 (GRCm39) |
L823P |
probably damaging |
Het |
Crb3 |
T |
C |
17: 57,372,090 (GRCm39) |
S46P |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,036,601 (GRCm39) |
R1058H |
probably damaging |
Het |
Ehd1 |
T |
A |
19: 6,348,502 (GRCm39) |
D493E |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,992,287 (GRCm39) |
M328K |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,240,586 (GRCm39) |
T494S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,145,138 (GRCm39) |
V830I |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,973,983 (GRCm39) |
H487Q |
possibly damaging |
Het |
Myh14 |
G |
A |
7: 44,283,800 (GRCm39) |
P735S |
probably damaging |
Het |
Nfkb2 |
T |
C |
19: 46,296,163 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,076,113 (GRCm39) |
V671A |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Pak5 |
A |
G |
2: 135,958,123 (GRCm39) |
S322P |
probably damaging |
Het |
Pank2 |
A |
G |
2: 131,124,601 (GRCm39) |
|
probably null |
Het |
Phf6 |
A |
T |
X: 52,031,525 (GRCm39) |
I272F |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,480,056 (GRCm39) |
L1409P |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,864,173 (GRCm39) |
E227K |
unknown |
Het |
Ptger1 |
C |
T |
8: 84,395,357 (GRCm39) |
T278I |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,050,532 (GRCm39) |
S250R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,672 (GRCm39) |
T285A |
probably damaging |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Slf1 |
T |
A |
13: 77,194,825 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,465,389 (GRCm39) |
T373A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Trpm2 |
T |
A |
10: 77,777,016 (GRCm39) |
D427V |
probably damaging |
Het |
Vax2 |
A |
T |
6: 83,714,871 (GRCm39) |
Y262F |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
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 |
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'- ACGTCTGAGAACATGCCTTCC -3'
(R):5'- ACTCAGGCGTTAGGAAGGTG -3'
Sequencing Primer
(F):5'- CACACGTAGAGTTTTTCTCCTGTAGG -3'
(R):5'- GGAAGGTGATTCATGTGAACTCATAC -3'
|
Posted On |
2014-10-15 |