Incidental Mutation 'R3008:Gm10277'
| ID |
257446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10277
|
| Ensembl Gene |
ENSMUSG00000069804 |
| Gene Name |
predicted gene 10277 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3008 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77676279-77678573 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 77676362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000645]
[ENSMUST00000092883]
[ENSMUST00000092887]
[ENSMUST00000102488]
[ENSMUST00000108375]
[ENSMUST00000108376]
[ENSMUST00000130627]
[ENSMUST00000168348]
[ENSMUST00000169105]
|
| AlphaFold |
Q6R5C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000645
|
| SMART Domains |
Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1183 |
1.53e-45 |
SMART |
|
IQ
|
1184 |
1206 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1219 |
1867 |
1.7e-34 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000092883
AA Change: Q203L
|
| SMART Domains |
Protein: ENSMUSP00000090559
Gene: ENSMUSG00000069804
AA Change: Q203L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092887
|
| SMART Domains |
Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1866 |
3e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102488
|
| SMART Domains |
Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1866 |
3e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108375
|
| SMART Domains |
Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1218 |
1838 |
6.8e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108376
|
| SMART Domains |
Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
399 |
1182 |
4.16e-47 |
SMART |
|
IQ
|
1183 |
1205 |
1.11e-3 |
SMART |
|
Blast:MYSc
|
1258 |
1387 |
1e-14 |
BLAST |
|
low complexity region
|
1396 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1743 |
1762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130627
|
| SMART Domains |
Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
411 |
1194 |
4.16e-47 |
SMART |
|
IQ
|
1195 |
1217 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1230 |
1850 |
6.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168348
|
| SMART Domains |
Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
447 |
1230 |
4.16e-47 |
SMART |
|
IQ
|
1231 |
1253 |
1.11e-3 |
SMART |
|
Blast:MYSc
|
1306 |
1435 |
1e-14 |
BLAST |
|
low complexity region
|
1444 |
1455 |
N/A |
INTRINSIC |
|
low complexity region
|
1828 |
1847 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169105
|
| SMART Domains |
Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
227 |
N/A |
INTRINSIC |
|
PDZ
|
229 |
311 |
5.72e-10 |
SMART |
|
MYSc
|
411 |
1194 |
4.16e-47 |
SMART |
|
IQ
|
1195 |
1217 |
1.11e-3 |
SMART |
|
Pfam:Myosin_tail_1
|
1230 |
1878 |
7.3e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,652,930 (GRCm39) |
L123P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pdp2 |
T |
A |
8: 105,320,898 (GRCm39) |
I249N |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
probably benign |
Het |
|
| Other mutations in Gm10277 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1724:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R1725:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R1726:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R1741:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R1742:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R1909:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R2023:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R2115:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R2116:Gm10277
|
UTSW |
11 |
77,676,828 (GRCm39) |
frame shift |
probably null |
|
|
R3894:Gm10277
|
UTSW |
11 |
77,676,827 (GRCm39) |
intron |
probably benign |
|
|
R4732:Gm10277
|
UTSW |
11 |
77,676,923 (GRCm39) |
intron |
probably benign |
|
|
R4733:Gm10277
|
UTSW |
11 |
77,676,923 (GRCm39) |
intron |
probably benign |
|
|
R4771:Gm10277
|
UTSW |
11 |
77,676,534 (GRCm39) |
intron |
probably benign |
|
|
R7366:Gm10277
|
UTSW |
11 |
77,676,584 (GRCm39) |
missense |
unknown |
|
|
R8688:Gm10277
|
UTSW |
11 |
77,676,405 (GRCm39) |
missense |
unknown |
|
|
R8961:Gm10277
|
UTSW |
11 |
77,677,826 (GRCm39) |
intron |
probably benign |
|
|
R9012:Gm10277
|
UTSW |
11 |
77,676,848 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAGGTTCTGCAGGTGTCC -3'
(R):5'- CCAAGAGTATAGCAGTTCCCACAG -3'
Sequencing Primer
(F):5'- TGTCCGGAGCAGGATCCTG -3'
(R):5'- TATAGCAGTTCCCACAGGCCTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation