Incidental Mutation 'R5146:Zfp873'
ID |
395118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp873
|
Ensembl Gene |
ENSMUSG00000061371 |
Gene Name |
zinc finger protein 873 |
Synonyms |
|
MMRRC Submission |
042730-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81883957-81900579 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81896058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105313]
[ENSMUST00000209622]
[ENSMUST00000210325]
|
AlphaFold |
A0A1B0GT64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105313
AA Change: Y263C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100950 Gene: ENSMUSG00000061371 AA Change: Y263C
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
68 |
90 |
1.12e2 |
SMART |
ZnF_C2H2
|
96 |
117 |
4.69e0 |
SMART |
ZnF_C2H2
|
123 |
145 |
2.06e1 |
SMART |
ZnF_C2H2
|
151 |
173 |
5.5e-3 |
SMART |
ZnF_C2H2
|
179 |
201 |
3.69e-4 |
SMART |
ZnF_C2H2
|
207 |
229 |
3.89e-3 |
SMART |
ZnF_C2H2
|
235 |
257 |
9.88e-5 |
SMART |
ZnF_C2H2
|
263 |
285 |
5.59e-4 |
SMART |
ZnF_C2H2
|
291 |
313 |
2.99e-4 |
SMART |
ZnF_C2H2
|
319 |
341 |
1.95e-3 |
SMART |
ZnF_C2H2
|
347 |
369 |
2.75e-3 |
SMART |
ZnF_C2H2
|
375 |
397 |
7.37e-4 |
SMART |
ZnF_C2H2
|
403 |
425 |
2.53e-2 |
SMART |
ZnF_C2H2
|
431 |
453 |
9.08e-4 |
SMART |
ZnF_C2H2
|
459 |
481 |
5.99e-4 |
SMART |
ZnF_C2H2
|
487 |
509 |
1.22e-4 |
SMART |
ZnF_C2H2
|
515 |
537 |
1.82e-3 |
SMART |
ZnF_C2H2
|
543 |
565 |
2.53e-2 |
SMART |
ZnF_C2H2
|
571 |
593 |
9.73e-4 |
SMART |
ZnF_C2H2
|
599 |
619 |
3.13e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209622
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210325
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219748
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
|
Other mutations in Zfp873 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02250:Zfp873
|
APN |
10 |
81,894,252 (GRCm39) |
start codon destroyed |
probably null |
0.45 |
G1Funyon:Zfp873
|
UTSW |
10 |
81,896,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Zfp873
|
UTSW |
10 |
81,896,595 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1568:Zfp873
|
UTSW |
10 |
81,896,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Zfp873
|
UTSW |
10 |
81,896,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Zfp873
|
UTSW |
10 |
81,896,406 (GRCm39) |
missense |
probably benign |
0.33 |
R1892:Zfp873
|
UTSW |
10 |
81,897,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Zfp873
|
UTSW |
10 |
81,895,991 (GRCm39) |
missense |
probably benign |
0.01 |
R3735:Zfp873
|
UTSW |
10 |
81,897,015 (GRCm39) |
missense |
probably benign |
0.15 |
R4422:Zfp873
|
UTSW |
10 |
81,896,708 (GRCm39) |
missense |
probably benign |
0.13 |
R4674:Zfp873
|
UTSW |
10 |
81,895,814 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4839:Zfp873
|
UTSW |
10 |
81,896,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R5154:Zfp873
|
UTSW |
10 |
81,896,025 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5160:Zfp873
|
UTSW |
10 |
81,896,876 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5811:Zfp873
|
UTSW |
10 |
81,896,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R6625:Zfp873
|
UTSW |
10 |
81,896,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R6667:Zfp873
|
UTSW |
10 |
81,896,423 (GRCm39) |
missense |
probably benign |
0.22 |
R6742:Zfp873
|
UTSW |
10 |
81,894,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R6878:Zfp873
|
UTSW |
10 |
81,896,529 (GRCm39) |
missense |
probably benign |
0.33 |
R7055:Zfp873
|
UTSW |
10 |
81,895,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Zfp873
|
UTSW |
10 |
81,897,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Zfp873
|
UTSW |
10 |
81,896,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Zfp873
|
UTSW |
10 |
81,896,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Zfp873
|
UTSW |
10 |
81,896,210 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7470:Zfp873
|
UTSW |
10 |
81,895,773 (GRCm39) |
missense |
probably benign |
0.19 |
R7640:Zfp873
|
UTSW |
10 |
81,896,109 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7862:Zfp873
|
UTSW |
10 |
81,896,109 (GRCm39) |
missense |
probably benign |
0.03 |
R8017:Zfp873
|
UTSW |
10 |
81,896,193 (GRCm39) |
missense |
probably benign |
0.01 |
R8301:Zfp873
|
UTSW |
10 |
81,896,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R8765:Zfp873
|
UTSW |
10 |
81,896,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Zfp873
|
UTSW |
10 |
81,896,990 (GRCm39) |
missense |
probably benign |
0.03 |
R9305:Zfp873
|
UTSW |
10 |
81,896,514 (GRCm39) |
missense |
probably benign |
0.00 |
R9462:Zfp873
|
UTSW |
10 |
81,897,131 (GRCm39) |
missense |
probably benign |
0.31 |
Z1177:Zfp873
|
UTSW |
10 |
81,896,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCATACTGGAGAGAAACCGTAT -3'
(R):5'- CCCGTGTGAGTTCTTTTGTGTAC -3'
Sequencing Primer
(F):5'- AGAAACCGTATGAATGTAATCAGTG -3'
(R):5'- GTGTACCTGCAGATTACTGAGCC -3'
|
Posted On |
2016-06-21 |