Incidental Mutation 'R4304:Gm20939'
| ID |
322549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm20939
|
| Ensembl Gene |
ENSMUSG00000095193 |
| Gene Name |
predicted gene, 20939 |
| Synonyms |
|
| MMRRC Submission |
040865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
95172317-95185749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 95184709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 452
(Q452H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108007
AA Change: Q452H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: Q452H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,391,545 (GRCm39) |
M323K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,006,489 (GRCm39) |
S636P |
probably benign |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,825,294 (GRCm39) |
V400D |
possibly damaging |
Het |
| Fam3d |
G |
A |
14: 8,349,324 (GRCm38) |
P209S |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,132,423 (GRCm39) |
D461V |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gcfc2 |
G |
A |
6: 81,919,988 (GRCm39) |
R397Q |
probably damaging |
Het |
| Gm5592 |
A |
T |
7: 40,935,686 (GRCm39) |
M63L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,295 (GRCm39) |
M252T |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,056,858 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Or4a68 |
A |
T |
2: 89,270,542 (GRCm39) |
V27D |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,227,736 (GRCm39) |
Q261* |
probably null |
Het |
| Rptn |
C |
A |
3: 93,304,238 (GRCm39) |
H524N |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,530,058 (GRCm39) |
M240K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,741 (GRCm39) |
I3503V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,172,941 (GRCm39) |
K625E |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,560,634 (GRCm39) |
V663A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpp1 |
T |
A |
7: 105,399,516 (GRCm39) |
D84V |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Wfdc15b |
A |
C |
2: 164,057,388 (GRCm39) |
M1R |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
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 |
|
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'- CTTTGGACGACACAGTCATCTCA -3'
(R):5'- TATGATATGCAATGGCTTTGTCAC -3'
Sequencing Primer
(F):5'- GTGATCAATGTGGTAAAGCCTTTCC -3'
(R):5'- ATATGCAATGGCTTTGTCACATTGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation