Incidental Mutation 'R5946:Zfp647'
ID |
472199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp647
|
Ensembl Gene |
ENSMUSG00000054967 |
Gene Name |
zinc finger protein 647 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5946 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,571,678 (GRCm39) |
F1137S |
probably damaging |
Het |
Actr6 |
G |
T |
10: 89,564,054 (GRCm39) |
Q73K |
probably benign |
Het |
Adamtsl3 |
G |
A |
7: 82,225,265 (GRCm39) |
G358D |
probably damaging |
Het |
Aggf1 |
A |
G |
13: 95,508,084 (GRCm39) |
V94A |
probably damaging |
Het |
Arpc3 |
A |
G |
5: 122,541,459 (GRCm39) |
Y57C |
probably damaging |
Het |
Asb2 |
A |
G |
12: 103,287,814 (GRCm39) |
Y630H |
probably benign |
Het |
Atp1a1 |
A |
T |
3: 101,497,090 (GRCm39) |
N405K |
probably benign |
Het |
C6 |
G |
T |
15: 4,837,996 (GRCm39) |
D869Y |
possibly damaging |
Het |
Cds2 |
A |
G |
2: 132,139,168 (GRCm39) |
Y137C |
probably damaging |
Het |
Ceacam12 |
A |
T |
7: 17,803,131 (GRCm39) |
E179V |
probably damaging |
Het |
Chgb |
T |
A |
2: 132,634,516 (GRCm39) |
Y153N |
probably benign |
Het |
Cit |
T |
A |
5: 116,135,593 (GRCm39) |
L1831Q |
probably damaging |
Het |
Cpne8 |
C |
A |
15: 90,373,191 (GRCm39) |
*578L |
probably null |
Het |
Cspg5 |
A |
G |
9: 110,080,151 (GRCm39) |
T440A |
probably damaging |
Het |
Dnah7a |
A |
C |
1: 53,598,467 (GRCm39) |
V1393G |
probably damaging |
Het |
Dnajb8 |
A |
G |
6: 88,199,575 (GRCm39) |
D37G |
probably benign |
Het |
Dst |
A |
G |
1: 34,213,273 (GRCm39) |
I1063M |
probably benign |
Het |
Efs |
T |
G |
14: 55,156,951 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
A |
G |
7: 34,991,257 (GRCm39) |
S596P |
probably damaging |
Het |
Hbs1l |
C |
A |
10: 21,217,655 (GRCm39) |
H190Q |
probably benign |
Het |
Ighm |
A |
G |
12: 113,386,329 (GRCm39) |
V7A |
unknown |
Het |
Ivd |
A |
T |
2: 118,707,370 (GRCm39) |
I295F |
possibly damaging |
Het |
Kcnq5 |
A |
C |
1: 21,575,931 (GRCm39) |
S258A |
probably damaging |
Het |
Mad1l1 |
G |
T |
5: 140,247,334 (GRCm39) |
P331Q |
probably damaging |
Het |
Mcf2l |
G |
T |
8: 13,063,922 (GRCm39) |
G1045C |
probably damaging |
Het |
Mcoln1 |
T |
A |
8: 3,558,701 (GRCm39) |
I233N |
probably damaging |
Het |
Mmp13 |
T |
C |
9: 7,276,580 (GRCm39) |
L225P |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,371,644 (GRCm39) |
C2615Y |
possibly damaging |
Het |
Myh7b |
T |
C |
2: 155,463,315 (GRCm39) |
F516L |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,851 (GRCm39) |
S1347R |
probably damaging |
Het |
Ogn |
A |
G |
13: 49,771,761 (GRCm39) |
N207S |
probably benign |
Het |
Or2h15 |
C |
A |
17: 38,441,598 (GRCm39) |
A162S |
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,658,330 (GRCm39) |
L300Q |
probably damaging |
Het |
Pcdha2 |
G |
T |
18: 37,074,159 (GRCm39) |
V597L |
probably damaging |
Het |
Pcnt |
T |
A |
10: 76,217,897 (GRCm39) |
Y2126F |
possibly damaging |
Het |
Pgbd5 |
A |
T |
8: 125,101,056 (GRCm39) |
M400K |
possibly damaging |
Het |
Pklr |
A |
T |
3: 89,043,503 (GRCm39) |
E5V |
probably benign |
Het |
Pkp4 |
T |
A |
2: 59,135,411 (GRCm39) |
D94E |
probably benign |
Het |
Ppan |
C |
T |
9: 20,800,969 (GRCm39) |
Q111* |
probably null |
Het |
Prkcb |
A |
G |
7: 122,143,926 (GRCm39) |
N330S |
probably benign |
Het |
Prl4a1 |
T |
A |
13: 28,202,499 (GRCm39) |
W25R |
probably damaging |
Het |
Rars2 |
T |
A |
4: 34,656,855 (GRCm39) |
H501Q |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,741,839 (GRCm39) |
D2114G |
probably damaging |
Het |
Serinc2 |
G |
T |
4: 130,149,314 (GRCm39) |
T351K |
possibly damaging |
Het |
Slc22a12 |
A |
G |
19: 6,587,881 (GRCm39) |
F358L |
probably damaging |
Het |
Sorcs2 |
A |
C |
5: 36,186,427 (GRCm39) |
V905G |
probably damaging |
Het |
Tekt3 |
G |
C |
11: 62,985,573 (GRCm39) |
A460P |
probably damaging |
Het |
Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
Tmc5 |
A |
T |
7: 118,269,948 (GRCm39) |
E899D |
probably damaging |
Het |
Tmem268 |
C |
T |
4: 63,486,746 (GRCm39) |
P90S |
probably damaging |
Het |
Trim38 |
A |
G |
13: 23,966,717 (GRCm39) |
M55V |
probably benign |
Het |
Trip10 |
T |
G |
17: 57,557,963 (GRCm39) |
V50G |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,911,942 (GRCm39) |
C990* |
probably null |
Het |
Uts2 |
A |
G |
4: 151,083,506 (GRCm39) |
D39G |
probably benign |
Het |
Vezf1 |
T |
A |
11: 87,964,560 (GRCm39) |
C49* |
probably null |
Het |
Wee2 |
T |
A |
6: 40,440,146 (GRCm39) |
N431K |
probably null |
Het |
Yeats2 |
C |
A |
16: 20,026,513 (GRCm39) |
Y796* |
probably null |
Het |
Zfp592 |
G |
A |
7: 80,687,645 (GRCm39) |
G890D |
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 |
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'- GCACTTTCCACACTCAATGCAG -3'
(R):5'- CACATGGGAGACTGTGAAGC -3'
Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
Posted On |
2017-03-31 |