Incidental Mutation 'R4307:Gm20939'
| ID |
377732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm20939
|
| Ensembl Gene |
ENSMUSG00000095193 |
| Gene Name |
predicted gene, 20939 |
| Synonyms |
|
| MMRRC Submission |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
40 |
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,573,792 (GRCm39) |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,531,649 (GRCm39) |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,512,744 (GRCm39) |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,237 (GRCm39) |
E504G |
probably damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,712 (GRCm39) |
Q349* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,585,517 (GRCm39) |
*68W |
probably null |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,154,879 (GRCm39) |
S333P |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,769,102 (GRCm39) |
Y481D |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,937 (GRCm39) |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 95,960,756 (GRCm39) |
|
probably benign |
Het |
| Mrtfa |
G |
A |
15: 80,900,548 (GRCm39) |
L648F |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,140,444 (GRCm39) |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,633,174 (GRCm39) |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,099 (GRCm39) |
S1597T |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,869,093 (GRCm39) |
H560Q |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,707,481 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,649 (GRCm39) |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,423 (GRCm39) |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,707 (GRCm39) |
F80I |
probably damaging |
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 |
|
R4158:Gm20939
|
UTSW |
17 |
95,184,162 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4304:Gm20939
|
UTSW |
17 |
95,184,709 (GRCm39) |
missense |
probably benign |
|
|
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'- TGCTAGTCTCCAAGCACATAAAGTAAC -3'
(R):5'- CTGAGATGACTGTGTCGTCCAA -3'
Sequencing Primer
(F):5'- TCTCATGGTCAACTTCAAGCACATG -3'
(R):5'- GACTGTGTCGTCCAAAGACTTTAC -3'
|
| Posted On |
2016-03-25 |
Incidental Mutation