Incidental Mutation 'R1609:Zfp277'
| ID |
176688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp277
|
| Ensembl Gene |
ENSMUSG00000055917 |
| Gene Name |
zinc finger protein 277 |
| Synonyms |
NIRF4, 2410017E24Rik |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
40365045-40495789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40378719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 379
(N379K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069637]
[ENSMUST00000069692]
|
| AlphaFold |
E9Q6D6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069637
AA Change: N253K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068032
Gene: ENSMUSG00000055917
AA Change: N253K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
59 |
84 |
4.27e1 |
SMART |
|
coiled coil region
|
143 |
171 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
174 |
198 |
3.85e1 |
SMART |
|
ZnF_C2H2
|
225 |
249 |
2.24e-3 |
SMART |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
303 |
326 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
356 |
382 |
4.94e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069692
AA Change: N379K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064226
Gene: ENSMUSG00000055917
AA Change: N379K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
185 |
210 |
4.27e1 |
SMART |
|
coiled coil region
|
269 |
297 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
300 |
324 |
3.85e1 |
SMART |
|
ZnF_C2H2
|
351 |
375 |
2.24e-3 |
SMART |
|
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
429 |
452 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
482 |
508 |
4.94e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222394
|
| Meta Mutation Damage Score |
0.5821 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early cellular preplicative senescence in MEFs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
|
| Other mutations in Zfp277 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01466:Zfp277
|
APN |
12 |
40,428,825 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01477:Zfp277
|
APN |
12 |
40,370,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02081:Zfp277
|
APN |
12 |
40,378,795 (GRCm39) |
nonsense |
probably null |
|
|
IGL02165:Zfp277
|
APN |
12 |
40,365,802 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02613:Zfp277
|
APN |
12 |
40,379,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Zfp277
|
APN |
12 |
40,378,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02825:Zfp277
|
APN |
12 |
40,367,175 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0194:Zfp277
|
UTSW |
12 |
40,428,876 (GRCm39) |
splice site |
probably benign |
|
|
R0226:Zfp277
|
UTSW |
12 |
40,414,161 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0843:Zfp277
|
UTSW |
12 |
40,370,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1263:Zfp277
|
UTSW |
12 |
40,414,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1584:Zfp277
|
UTSW |
12 |
40,428,825 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1644:Zfp277
|
UTSW |
12 |
40,379,609 (GRCm39) |
splice site |
probably null |
|
|
R1789:Zfp277
|
UTSW |
12 |
40,414,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1882:Zfp277
|
UTSW |
12 |
40,495,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2011:Zfp277
|
UTSW |
12 |
40,367,217 (GRCm39) |
nonsense |
probably null |
|
|
R4884:Zfp277
|
UTSW |
12 |
40,413,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4976:Zfp277
|
UTSW |
12 |
40,378,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5119:Zfp277
|
UTSW |
12 |
40,378,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5532:Zfp277
|
UTSW |
12 |
40,385,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Zfp277
|
UTSW |
12 |
40,368,548 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7191:Zfp277
|
UTSW |
12 |
40,379,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Zfp277
|
UTSW |
12 |
40,365,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7446:Zfp277
|
UTSW |
12 |
40,378,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7564:Zfp277
|
UTSW |
12 |
40,379,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Zfp277
|
UTSW |
12 |
40,365,880 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8428:Zfp277
|
UTSW |
12 |
40,379,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Zfp277
|
UTSW |
12 |
40,370,611 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTCAAGCTGCCAGATAGCAC -3'
(R):5'- GGGGATTCACCGAGAAACCGTTTTAAC -3'
Sequencing Primer
(F):5'- TGCAGAAACATCTGGCAAGC -3'
(R):5'- GAAACCGTTTTAACCTCGTTTATTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation