Incidental Mutation 'R5196:Zfp647'
| ID |
400278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76910371-76925448 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76912085 bp (GRCm38)
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,796,438 (GRCm38) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,646,263 (GRCm38) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,740,540 (GRCm38) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,421,259 (GRCm38) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,246,061 (GRCm38) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,760,027 (GRCm38) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,185,109 (GRCm38) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm38) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,606,141 (GRCm38) |
|
probably benign |
Het |
| Bltp3a |
A |
G |
17: 27,856,763 (GRCm38) |
I5V |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,561,181 (GRCm38) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 180,072,413 (GRCm38) |
V431A |
probably benign |
Het |
| Cdh7 |
T |
A |
1: 110,138,000 (GRCm38) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,825,925 (GRCm38) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,480,384 (GRCm38) |
Y129C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 55,006,519 (GRCm38) |
I421V |
possibly damaging |
Het |
| Clk1 |
T |
A |
1: 58,414,613 (GRCm38) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,816,538 (GRCm38) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,484,428 (GRCm38) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,484,142 (GRCm38) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,572,538 (GRCm38) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,965,661 (GRCm38) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,495,015 (GRCm38) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,032,607 (GRCm38) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,420,193 (GRCm38) |
E613G |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 22,911,713 (GRCm38) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 75,962,687 (GRCm38) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,780,299 (GRCm38) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,114,608 (GRCm38) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 70,788,245 (GRCm38) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,529,813 (GRCm38) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,004 (GRCm38) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,536,351 (GRCm38) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,934,983 (GRCm38) |
D158G |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,382,389 (GRCm38) |
D165V |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,339,748 (GRCm38) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,842,781 (GRCm38) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,310,083 (GRCm38) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,588,092 (GRCm38) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,941,132 (GRCm38) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 77,564,997 (GRCm38) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,815,497 (GRCm38) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,234,230 (GRCm38) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,405,547 (GRCm38) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,281,722 (GRCm38) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,593,715 (GRCm38) |
R368S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,520,714 (GRCm38) |
V189A |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,087,084 (GRCm38) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,480,760 (GRCm38) |
R807W |
probably damaging |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,911,670 (GRCm38) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,917,768 (GRCm38) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,917,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03213:Zfp647
|
APN |
15 |
76,911,977 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03401:Zfp647
|
APN |
15 |
76,911,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,911,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,911,203 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,911,951 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,911,114 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,911,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,910,976 (GRCm38) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R5197:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5345:Zfp647
|
UTSW |
15 |
76,911,495 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5415:Zfp647
|
UTSW |
15 |
76,911,393 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,918,006 (GRCm38) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5946:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6101:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6136:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,911,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,917,305 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,911,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,911,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,911,895 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,911,371 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,911,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCGACCAAAGCACTTTC -3'
(R):5'- AGCAAAGCCAGCATTAAGATTG -3'
Sequencing Primer
(F):5'- TTCCACACTCAATGCAGATATAGGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation