Incidental Mutation 'R1215:Zfp871'
ID |
99604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp871
|
Ensembl Gene |
ENSMUSG00000024298 |
Gene Name |
zinc finger protein 871 |
Synonyms |
9030612M13Rik |
MMRRC Submission |
039284-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1215 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
32984470-33007261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32994946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 57
(D57E)
|
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: D57E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000050501 Gene: ENSMUSG00000024298 AA Change: D57E
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: D76E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000127178 Gene: ENSMUSG00000024298 AA Change: D76E
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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
probably benign |
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 |
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 |
|
R6474:Zfp871
|
UTSW |
17 |
32,994,647 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- GATCTTCGCACGATTCATGCTTTGG -3'
(R):5'- ACAGCAGCCTCTGAGACAAAACTTG -3'
Sequencing Primer
(F):5'- CTTTGGGTCAGGTTTAAGAAGTACAC -3'
(R):5'- GTGTAGGTGATATAACAGCCACCC -3'
|
Posted On |
2014-01-15 |