Incidental Mutation 'R3158:Gm20939'
| ID |
348330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm20939
|
| Ensembl Gene |
ENSMUSG00000095193 |
| Gene Name |
predicted gene, 20939 |
| Synonyms |
|
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
49 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
95172317-95185749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95184721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 456
(H456Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108007
AA Change: H456Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: H456Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
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 |
|
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 |
|
|
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'- TGTGGTAAAGTCTTTGGACGACA -3'
(R):5'- ATGGCTTTGTCACATTGGTTATATT -3'
Sequencing Primer
(F):5'- AGTCTTTGGACGACACAGTC -3'
(R):5'- CACAGAGTTACTCTTTAGTATGTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation