Incidental Mutation 'R3702:Zfp647'
| ID |
258582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76794571-76809648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76795110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 517
(R517W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004072]
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229183]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004072
|
| SMART Domains |
Protein: ENSMUSP00000004072
Gene: ENSMUSG00000003970
| Domain | Start | End | E-Value | Type |
|---|
|
Ribosomal_L2
|
11 |
90 |
5.53e-33 |
SMART |
|
Ribosomal_L2_C
|
96 |
231 |
6.56e-67 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048854
AA Change: R517W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: R517W
| 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 damaging
Transcript: ENSMUST00000229055
AA Change: R517W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229865
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
| Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6136: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'- GACATGGGACTGTAACAGAGTC -3'
(R):5'- AAGGCCTTTGTCCAGCACTC -3'
Sequencing Primer
(F):5'- CTGTAACAGAGTCCCCAAGGG -3'
(R):5'- ACCCTTTCAGTGCACAGAGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation