Incidental Mutation 'R5944:Zfp647'
ID |
460498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp647
|
Ensembl Gene |
ENSMUSG00000054967 |
Gene Name |
zinc finger protein 647 |
Synonyms |
|
MMRRC Submission |
044136-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5944 (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 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: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
86% (51/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
T |
5: 114,384,041 (GRCm39) |
R2190L |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,433,702 (GRCm39) |
R689H |
probably damaging |
Het |
Apol7b |
A |
T |
15: 77,307,967 (GRCm39) |
V176E |
probably damaging |
Het |
Arsg |
T |
C |
11: 109,426,137 (GRCm39) |
F319S |
probably damaging |
Het |
Bcar3 |
T |
A |
3: 122,316,932 (GRCm39) |
D634E |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,749,167 (GRCm39) |
W95R |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,791,115 (GRCm39) |
|
probably null |
Het |
Cfap91 |
G |
T |
16: 38,148,672 (GRCm39) |
T252N |
probably damaging |
Het |
Clasrp |
A |
T |
7: 19,328,431 (GRCm39) |
Y116N |
probably damaging |
Het |
Cldn17 |
T |
C |
16: 88,303,597 (GRCm39) |
E44G |
probably damaging |
Het |
Cyfip1 |
G |
A |
7: 55,521,878 (GRCm39) |
E61K |
probably damaging |
Het |
Dcaf13 |
A |
C |
15: 39,010,072 (GRCm39) |
M419L |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,753,472 (GRCm39) |
D269G |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,372,605 (GRCm39) |
Y258C |
probably damaging |
Het |
Fdxr |
T |
A |
11: 115,160,672 (GRCm39) |
T288S |
probably benign |
Het |
Frs3 |
T |
C |
17: 48,003,233 (GRCm39) |
|
probably benign |
Het |
Gm5581 |
T |
A |
6: 131,145,363 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
G |
7: 83,405,743 (GRCm39) |
D187G |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,250 (GRCm39) |
V284A |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,082,076 (GRCm39) |
T177A |
possibly damaging |
Het |
Ifi202b |
T |
A |
1: 173,791,365 (GRCm39) |
M438L |
probably benign |
Het |
Ighv1-3 |
T |
C |
12: 114,445,239 (GRCm39) |
|
probably benign |
Het |
Krt36 |
G |
T |
11: 99,996,139 (GRCm39) |
A95E |
probably benign |
Het |
Krt9 |
C |
T |
11: 100,079,265 (GRCm39) |
S709N |
unknown |
Het |
Lmntd1 |
A |
T |
6: 145,373,042 (GRCm39) |
S164T |
probably damaging |
Het |
Or14c41 |
T |
A |
7: 86,234,486 (GRCm39) |
M1K |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,853 (GRCm39) |
C28* |
probably null |
Het |
Or52n4b |
G |
A |
7: 108,144,484 (GRCm39) |
A249T |
possibly damaging |
Het |
Or5b94 |
C |
T |
19: 12,652,283 (GRCm39) |
T238I |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,871,223 (GRCm39) |
M198L |
probably benign |
Het |
Papola |
T |
A |
12: 105,778,644 (GRCm39) |
F341I |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,859,785 (GRCm39) |
L914P |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,087,230 (GRCm39) |
V132A |
probably benign |
Het |
Serpini1 |
G |
A |
3: 75,547,606 (GRCm39) |
D373N |
probably damaging |
Het |
Sigirr |
T |
C |
7: 140,671,300 (GRCm39) |
Y394C |
probably damaging |
Het |
Slc29a4 |
G |
A |
5: 142,704,573 (GRCm39) |
E372K |
probably damaging |
Het |
Slc7a4 |
C |
T |
16: 17,392,220 (GRCm39) |
V405I |
possibly damaging |
Het |
Spatc1 |
T |
C |
15: 76,168,138 (GRCm39) |
L199P |
probably damaging |
Het |
Srgap3 |
T |
C |
6: 112,772,775 (GRCm39) |
M149V |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stat3 |
C |
T |
11: 100,785,931 (GRCm39) |
A449T |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,113,898 (GRCm39) |
N203D |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,667,564 (GRCm39) |
|
probably null |
Het |
Trav3-1 |
T |
C |
14: 52,818,449 (GRCm39) |
I41T |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,313,089 (GRCm39) |
D525E |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,232,620 (GRCm39) |
V848A |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,809,769 (GRCm39) |
D185V |
probably benign |
Het |
Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
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 |
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'- GCACTTTCCACACTCAATGC -3'
(R):5'- TCTCACATGGGAGACTGTGAAG -3'
Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
Posted On |
2017-02-28 |