Incidental Mutation 'R0050:Gm11492'
| ID |
218464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11492
|
| Ensembl Gene |
ENSMUSG00000090107 |
| Gene Name |
predicted gene 11492 |
| Synonyms |
|
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
46 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87566653-87569250 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87567346 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 182
(L182S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060360]
[ENSMUST00000122945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060360
AA Change: L182S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: L182S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4655
|
13 |
369 |
1.7e-99 |
PFAM |
|
Pfam:DUF4655
|
366 |
509 |
2.7e-68 |
PFAM |
|
low complexity region
|
511 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122945
|
| SMART Domains |
Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
|
Pfam:DUF258
|
116 |
212 |
2.4e-7 |
PFAM |
|
Pfam:Septin
|
134 |
213 |
9.1e-31 |
PFAM |
|
Pfam:MMR_HSR1
|
139 |
213 |
5.5e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1480 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,145,591 (GRCm38) |
C564Y |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,775,395 (GRCm38) |
V406A |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,656,164 (GRCm38) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 133,132,196 (GRCm38) |
D75Y |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,787,718 (GRCm38) |
|
probably benign |
Het |
| Cadm2 |
A |
G |
16: 66,953,266 (GRCm38) |
|
probably benign |
Het |
| Ces2c |
T |
A |
8: 104,848,199 (GRCm38) |
M96K |
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,622,589 (GRCm38) |
P266H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,607,225 (GRCm38) |
V1124A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,828,848 (GRCm38) |
F37L |
possibly damaging |
Het |
| Ermp1 |
C |
A |
19: 29,628,784 (GRCm38) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,156,453 (GRCm38) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,292,127 (GRCm38) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,615,389 (GRCm38) |
M755L |
probably damaging |
Het |
| H1foo |
G |
T |
6: 115,947,768 (GRCm38) |
K78N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,404,103 (GRCm38) |
H268Q |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,068,931 (GRCm38) |
V1614A |
probably damaging |
Het |
| Oaz2 |
A |
G |
9: 65,687,802 (GRCm38) |
E61G |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,755,987 (GRCm38) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,573,807 (GRCm38) |
T3493S |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,108,088 (GRCm38) |
|
probably null |
Het |
| Ppp3cb |
A |
G |
14: 20,531,752 (GRCm38) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 24,817,834 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,101,803 (GRCm38) |
T1449M |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,360,419 (GRCm38) |
|
probably benign |
Het |
| Stx2 |
A |
G |
5: 128,999,508 (GRCm38) |
|
probably null |
Het |
| Tnxb |
T |
A |
17: 34,673,325 (GRCm38) |
D764E |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,250,843 (GRCm38) |
E234D |
probably damaging |
Het |
|
| Other mutations in Gm11492 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Gm11492
|
APN |
11 |
87,568,249 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01993:Gm11492
|
APN |
11 |
87,567,729 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02566:Gm11492
|
APN |
11 |
87,567,642 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03213:Gm11492
|
APN |
11 |
87,567,358 (GRCm38) |
splice site |
probably null |
|
|
IGL03388:Gm11492
|
APN |
11 |
87,568,216 (GRCm38) |
nonsense |
probably null |
|
|
R1479:Gm11492
|
UTSW |
11 |
87,567,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Gm11492
|
UTSW |
11 |
87,568,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Gm11492
|
UTSW |
11 |
87,567,235 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1913:Gm11492
|
UTSW |
11 |
87,567,012 (GRCm38) |
missense |
probably benign |
|
|
R3149:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3176:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3276:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4021:Gm11492
|
UTSW |
11 |
87,567,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4117:Gm11492
|
UTSW |
11 |
87,568,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4332:Gm11492
|
UTSW |
11 |
87,567,904 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4515:Gm11492
|
UTSW |
11 |
87,568,057 (GRCm38) |
missense |
probably benign |
|
|
R4663:Gm11492
|
UTSW |
11 |
87,567,603 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4952:Gm11492
|
UTSW |
11 |
87,567,772 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5015:Gm11492
|
UTSW |
11 |
87,567,217 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5176:Gm11492
|
UTSW |
11 |
87,567,532 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5711:Gm11492
|
UTSW |
11 |
87,567,897 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6305:Gm11492
|
UTSW |
11 |
87,567,319 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9289:Gm11492
|
UTSW |
11 |
87,568,966 (GRCm38) |
nonsense |
probably null |
|
|
T0970:Gm11492
|
UTSW |
11 |
87,567,732 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Gm11492
|
UTSW |
11 |
87,567,922 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATAGAGGTGCCCTGCCATCAC -3'
(R):5'- TGCGAATGCCATGCTCTTGGAC -3'
Sequencing Primer
(F):5'- actctcctcatcactctccac -3'
(R):5'- TCATCCTTCGGGTATGCTGA -3'
|
| Posted On |
2014-08-11 |
Incidental Mutation