Incidental Mutation 'IGL02051:Gm11437'
| ID |
186110 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm11437
|
| Ensembl Gene |
ENSMUSG00000051452 |
| Gene Name |
predicted gene 11437 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84039187-84058302 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84043592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 233
(Q233L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050771]
[ENSMUST00000133811]
|
| AlphaFold |
Q5QR91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050771
AA Change: Q233L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056084
Gene: ENSMUSG00000051452
AA Change: Q233L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4711
|
1 |
226 |
7.4e-102 |
PFAM |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133811
|
| SMART Domains |
Protein: ENSMUSP00000116174
Gene: ENSMUSG00000020532
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
PDB:2YL2|B
|
115 |
157 |
2e-21 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacul1 |
T |
C |
19: 60,531,504 (GRCm39) |
D255G |
probably damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,111,887 (GRCm39) |
S94P |
probably damaging |
Het |
| Defa38 |
A |
G |
8: 21,585,275 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,617 (GRCm39) |
T223A |
probably benign |
Het |
| Firrm |
T |
C |
1: 163,785,091 (GRCm39) |
T763A |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,828,894 (GRCm39) |
T167A |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,736,464 (GRCm39) |
I533V |
probably benign |
Het |
| Hif1an |
A |
G |
19: 44,551,829 (GRCm39) |
Y93C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,295,700 (GRCm39) |
|
probably benign |
Het |
| Ints15 |
A |
G |
5: 143,293,737 (GRCm39) |
C247R |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,195,558 (GRCm39) |
A385V |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,980,597 (GRCm39) |
K190N |
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,128,916 (GRCm39) |
|
probably null |
Het |
| Ptpn5 |
A |
G |
7: 46,732,507 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
G |
7: 28,771,083 (GRCm39) |
Y2614H |
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,274,324 (GRCm39) |
Y192N |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,444,382 (GRCm39) |
L145P |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,608,381 (GRCm39) |
E101G |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,948 (GRCm39) |
V50E |
probably benign |
Het |
| Vpreb3 |
G |
A |
10: 75,784,244 (GRCm39) |
|
probably null |
Het |
| Vps72 |
T |
C |
3: 95,030,040 (GRCm39) |
L353P |
possibly damaging |
Het |
|
| Other mutations in Gm11437 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Gm11437
|
APN |
11 |
84,039,448 (GRCm39) |
intron |
probably benign |
|
|
IGL01354:Gm11437
|
APN |
11 |
84,058,144 (GRCm39) |
intron |
probably benign |
|
|
IGL03184:Gm11437
|
APN |
11 |
84,047,090 (GRCm39) |
intron |
probably benign |
|
|
R0076:Gm11437
|
UTSW |
11 |
84,039,462 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0076:Gm11437
|
UTSW |
11 |
84,039,462 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1241:Gm11437
|
UTSW |
11 |
84,055,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2135:Gm11437
|
UTSW |
11 |
84,044,638 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4065:Gm11437
|
UTSW |
11 |
84,055,337 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4067:Gm11437
|
UTSW |
11 |
84,055,337 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5356:Gm11437
|
UTSW |
11 |
84,043,513 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6571:Gm11437
|
UTSW |
11 |
84,047,038 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6594:Gm11437
|
UTSW |
11 |
84,055,386 (GRCm39) |
missense |
probably null |
0.03 |
|
R7173:Gm11437
|
UTSW |
11 |
84,055,374 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7368:Gm11437
|
UTSW |
11 |
84,058,298 (GRCm39) |
intron |
probably benign |
|
|
R8918:Gm11437
|
UTSW |
11 |
84,043,530 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0026:Gm11437
|
UTSW |
11 |
84,056,153 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0028:Gm11437
|
UTSW |
11 |
84,046,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation