Incidental Mutation 'R6474:Zfp871'
ID |
516748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp871
|
Ensembl Gene |
ENSMUSG00000024298 |
Gene Name |
zinc finger protein 871 |
Synonyms |
9030612M13Rik |
MMRRC Submission |
044607-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6474 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32984470-33007261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32994647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 157
(D157G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057501]
[ENSMUST00000159086]
|
AlphaFold |
G5E905 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057501
AA Change: D157G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000050501 Gene: ENSMUSG00000024298 AA Change: D157G
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
42 |
1.32e0 |
SMART |
ZnF_C2H2
|
174 |
196 |
5.9e-3 |
SMART |
ZnF_C2H2
|
202 |
224 |
6.32e-3 |
SMART |
ZnF_C2H2
|
230 |
252 |
1.47e-3 |
SMART |
ZnF_C2H2
|
258 |
280 |
3.63e-3 |
SMART |
ZnF_C2H2
|
286 |
308 |
1.79e-2 |
SMART |
ZnF_C2H2
|
314 |
336 |
4.79e-3 |
SMART |
ZnF_C2H2
|
342 |
364 |
1.69e-3 |
SMART |
ZnF_C2H2
|
370 |
392 |
2.79e-4 |
SMART |
ZnF_C2H2
|
398 |
420 |
1.23e-5 |
SMART |
ZnF_C2H2
|
426 |
448 |
1.2e-3 |
SMART |
ZnF_C2H2
|
454 |
476 |
5.42e-2 |
SMART |
ZnF_C2H2
|
482 |
504 |
8.6e-5 |
SMART |
ZnF_C2H2
|
510 |
532 |
5.21e-4 |
SMART |
ZnF_C2H2
|
538 |
560 |
3.11e-2 |
SMART |
ZnF_C2H2
|
566 |
588 |
2.86e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159086
AA Change: D176G
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127178 Gene: ENSMUSG00000024298 AA Change: D176G
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
61 |
2.18e-15 |
SMART |
ZnF_C2H2
|
193 |
215 |
5.9e-3 |
SMART |
ZnF_C2H2
|
221 |
243 |
6.32e-3 |
SMART |
ZnF_C2H2
|
249 |
271 |
1.47e-3 |
SMART |
ZnF_C2H2
|
277 |
299 |
3.63e-3 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.79e-2 |
SMART |
ZnF_C2H2
|
333 |
355 |
4.79e-3 |
SMART |
ZnF_C2H2
|
361 |
383 |
1.69e-3 |
SMART |
ZnF_C2H2
|
389 |
411 |
2.79e-4 |
SMART |
ZnF_C2H2
|
417 |
439 |
1.23e-5 |
SMART |
ZnF_C2H2
|
445 |
467 |
1.2e-3 |
SMART |
ZnF_C2H2
|
473 |
495 |
5.42e-2 |
SMART |
ZnF_C2H2
|
501 |
523 |
8.6e-5 |
SMART |
ZnF_C2H2
|
529 |
551 |
5.21e-4 |
SMART |
ZnF_C2H2
|
557 |
579 |
3.11e-2 |
SMART |
ZnF_C2H2
|
585 |
607 |
2.86e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168337
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
|
Other mutations in Zfp871 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00849:Zfp871
|
APN |
17 |
32,994,873 (GRCm39) |
missense |
probably benign |
|
IGL00963:Zfp871
|
APN |
17 |
32,993,726 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01687:Zfp871
|
APN |
17 |
32,994,618 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02170:Zfp871
|
APN |
17 |
32,994,662 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02399:Zfp871
|
APN |
17 |
32,993,329 (GRCm39) |
missense |
probably benign |
0.18 |
R0304:Zfp871
|
UTSW |
17 |
32,993,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R1215:Zfp871
|
UTSW |
17 |
32,994,946 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1444:Zfp871
|
UTSW |
17 |
32,993,900 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1754:Zfp871
|
UTSW |
17 |
32,994,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Zfp871
|
UTSW |
17 |
32,994,891 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2018:Zfp871
|
UTSW |
17 |
32,993,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Zfp871
|
UTSW |
17 |
32,994,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R2881:Zfp871
|
UTSW |
17 |
32,994,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Zfp871
|
UTSW |
17 |
32,993,808 (GRCm39) |
missense |
probably benign |
0.37 |
R4422:Zfp871
|
UTSW |
17 |
32,993,807 (GRCm39) |
missense |
probably benign |
0.39 |
R4979:Zfp871
|
UTSW |
17 |
32,994,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R5564:Zfp871
|
UTSW |
17 |
32,994,842 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6228:Zfp871
|
UTSW |
17 |
32,994,858 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6232:Zfp871
|
UTSW |
17 |
32,994,494 (GRCm39) |
frame shift |
probably null |
|
R6233:Zfp871
|
UTSW |
17 |
32,994,494 (GRCm39) |
frame shift |
probably null |
|
R6234:Zfp871
|
UTSW |
17 |
32,994,494 (GRCm39) |
frame shift |
probably null |
|
R7237:Zfp871
|
UTSW |
17 |
32,994,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7809:Zfp871
|
UTSW |
17 |
32,993,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Zfp871
|
UTSW |
17 |
32,993,901 (GRCm39) |
missense |
probably benign |
0.03 |
R9219:Zfp871
|
UTSW |
17 |
32,993,914 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCGCAACTGAATCCAACG -3'
(R):5'- AAGTGTACTTCTTAAACCTGACCC -3'
Sequencing Primer
(F):5'- ATGAGCGAAGGTTTTCCCAC -3'
(R):5'- TGACCCAAAGCATGAATCGTG -3'
|
Posted On |
2018-05-21 |