Incidental Mutation 'R6136:Zfp647'
| ID |
488371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
044283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76794571-76809648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76796285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 125
(P125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048854
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
KRAB
|
17 |
77 |
7.05e-33 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229055
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1789 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,181 (GRCm39) |
G124C |
unknown |
Het |
| 3425401B19Rik |
A |
T |
14: 32,384,239 (GRCm39) |
D575E |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 119,939,272 (GRCm39) |
H222L |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,504,507 (GRCm39) |
V1013A |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,424 (GRCm39) |
M1T |
probably null |
Het |
| Atp10a |
A |
C |
7: 58,478,088 (GRCm39) |
Q1377P |
probably benign |
Het |
| Atrip |
T |
A |
9: 108,900,804 (GRCm39) |
E178D |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,727,649 (GRCm39) |
A158T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,577,755 (GRCm39) |
N625D |
probably benign |
Het |
| Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
| Cox11 |
T |
C |
11: 90,535,221 (GRCm39) |
L84P |
probably damaging |
Het |
| Dchs1 |
T |
G |
7: 105,410,132 (GRCm39) |
T1747P |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,597,227 (GRCm39) |
K3529E |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,370,859 (GRCm39) |
N620S |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,052 (GRCm39) |
K278N |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fzd7 |
T |
G |
1: 59,522,419 (GRCm39) |
F101V |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,406,491 (GRCm39) |
|
probably benign |
Het |
| Gm32647 |
C |
T |
7: 94,124,939 (GRCm39) |
|
|
Het |
| Gm5624 |
A |
T |
14: 44,797,333 (GRCm39) |
D152E |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,663,329 (GRCm39) |
V664E |
possibly damaging |
Het |
| Hpgd |
A |
G |
8: 56,747,987 (GRCm39) |
D36G |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,108 (GRCm39) |
T199A |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,481 (GRCm39) |
D228A |
probably damaging |
Het |
| Miox |
T |
C |
15: 89,219,524 (GRCm39) |
M47T |
probably damaging |
Het |
| Nampt |
A |
T |
12: 32,880,301 (GRCm39) |
I65F |
probably benign |
Het |
| Ncf1 |
T |
C |
5: 134,255,487 (GRCm39) |
K135E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,672,314 (GRCm39) |
Q452* |
probably null |
Het |
| Or8u10 |
A |
G |
2: 85,915,245 (GRCm39) |
L292S |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,358 (GRCm39) |
V543A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,440,577 (GRCm39) |
|
probably null |
Het |
| Rap1a |
A |
G |
3: 105,657,598 (GRCm39) |
V7A |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,813,543 (GRCm39) |
V639A |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,382 (GRCm39) |
N236S |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,516,554 (GRCm39) |
D1272G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,038,039 (GRCm39) |
D1508G |
probably benign |
Het |
| Slc1a1 |
T |
A |
19: 28,882,810 (GRCm39) |
L358Q |
probably damaging |
Het |
| Slc7a12 |
C |
A |
3: 14,564,186 (GRCm39) |
L20I |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,853 (GRCm39) |
S729P |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,941,302 (GRCm39) |
T187M |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,494 (GRCm39) |
D647G |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,028,562 (GRCm39) |
R380Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,952,099 (GRCm39) |
S456G |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,015,465 (GRCm39) |
D122E |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,008 (GRCm39) |
M649V |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,824,107 (GRCm39) |
T1440A |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,831 (GRCm39) |
D846G |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,632 (GRCm39) |
T262A |
possibly damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,455 (GRCm39) |
W356L |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,220,427 (GRCm39) |
M605K |
possibly damaging |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,795,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,801,968 (GRCm39) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,801,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Zfp647
|
APN |
15 |
76,796,177 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03401:Zfp647
|
APN |
15 |
76,795,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,795,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,795,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,796,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,795,314 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,795,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,795,176 (GRCm39) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R5196:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5197:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5345:Zfp647
|
UTSW |
15 |
76,795,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5415:Zfp647
|
UTSW |
15 |
76,795,593 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,802,206 (GRCm39) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5946:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6101:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,796,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,801,505 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,795,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,795,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,796,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,795,571 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,795,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCGACCAAAGCACTTTC -3'
(R):5'- AGCCAGCATTAAGATTGTACTCAG -3'
Sequencing Primer
(F):5'- TTCCACACTCAATGCAGATATAGGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation