Incidental Mutation 'R4158:Gm20939'
ID |
368312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm20939
|
Ensembl Gene |
ENSMUSG00000095193 |
Gene Name |
predicted gene, 20939 |
Synonyms |
|
MMRRC Submission |
041001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4158 (G1)
|
Quality Score |
39 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
95172317-95185749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95184162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 270
(Y270F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108007]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108007
AA Change: Y270F
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103642 Gene: ENSMUSG00000095193 AA Change: Y270F
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
65 |
7.59e-15 |
SMART |
ZnF_C2H2
|
130 |
152 |
5.21e-4 |
SMART |
ZnF_C2H2
|
158 |
180 |
1.18e-2 |
SMART |
ZnF_C2H2
|
186 |
208 |
2.12e-4 |
SMART |
ZnF_C2H2
|
214 |
236 |
2.57e-3 |
SMART |
ZnF_C2H2
|
242 |
264 |
1.3e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
2.99e-4 |
SMART |
ZnF_C2H2
|
298 |
320 |
7.9e-4 |
SMART |
ZnF_C2H2
|
326 |
348 |
1.6e-4 |
SMART |
ZnF_C2H2
|
354 |
376 |
4.24e-4 |
SMART |
ZnF_C2H2
|
382 |
404 |
2.79e-4 |
SMART |
ZnF_C2H2
|
410 |
432 |
5.14e-3 |
SMART |
ZnF_C2H2
|
438 |
460 |
1.22e-4 |
SMART |
ZnF_C2H2
|
466 |
488 |
4.17e-3 |
SMART |
ZnF_C2H2
|
494 |
516 |
1.6e-4 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
probably benign |
Het |
|
Other mutations in Gm20939 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01542:Gm20939
|
APN |
17 |
95,181,721 (GRCm39) |
splice site |
probably benign |
|
R0015:Gm20939
|
UTSW |
17 |
95,184,196 (GRCm39) |
missense |
probably benign |
0.00 |
R1563:Gm20939
|
UTSW |
17 |
95,184,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R1714:Gm20939
|
UTSW |
17 |
95,183,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Gm20939
|
UTSW |
17 |
95,183,252 (GRCm39) |
splice site |
probably benign |
|
R2922:Gm20939
|
UTSW |
17 |
95,184,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Gm20939
|
UTSW |
17 |
95,184,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R3158:Gm20939
|
UTSW |
17 |
95,184,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Gm20939
|
UTSW |
17 |
95,184,138 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4304:Gm20939
|
UTSW |
17 |
95,184,709 (GRCm39) |
missense |
probably benign |
|
R4307:Gm20939
|
UTSW |
17 |
95,184,162 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5080:Gm20939
|
UTSW |
17 |
95,184,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R5271:Gm20939
|
UTSW |
17 |
95,184,583 (GRCm39) |
nonsense |
probably null |
|
R5661:Gm20939
|
UTSW |
17 |
95,183,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Gm20939
|
UTSW |
17 |
95,181,767 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6800:Gm20939
|
UTSW |
17 |
95,184,657 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8393:Gm20939
|
UTSW |
17 |
95,183,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Gm20939
|
UTSW |
17 |
95,184,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R9285:Gm20939
|
UTSW |
17 |
95,184,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9327:Gm20939
|
UTSW |
17 |
95,184,424 (GRCm39) |
missense |
probably benign |
0.12 |
R9348:Gm20939
|
UTSW |
17 |
95,182,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R9599:Gm20939
|
UTSW |
17 |
95,184,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R9686:Gm20939
|
UTSW |
17 |
95,184,888 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Gm20939
|
UTSW |
17 |
95,184,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCCTTTGCCTCTCATGGT -3'
(R):5'- TGGAAAGGCTTTACCACATTGAT -3'
Sequencing Primer
(F):5'- TCTCATGGTCAACTTCAAGCACATG -3'
(R):5'- TGACTGTGTCGTCCAAAGAC -3'
|
Posted On |
2016-01-25 |