Incidental Mutation 'R6671:Gldn'
| ID |
527144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gldn
|
| Ensembl Gene |
ENSMUSG00000046167 |
| Gene Name |
gliomedin |
| Synonyms |
CRG-L2, Crlg2 |
| MMRRC Submission |
044791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R6671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54193770-54249061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54245691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 414
(L414P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056740]
|
| AlphaFold |
Q8BMF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056740
AA Change: L414P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: L414P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
136 |
195 |
8.3e-11 |
PFAM |
|
low complexity region
|
199 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
261 |
N/A |
INTRINSIC |
|
OLF
|
299 |
543 |
1.97e-35 |
SMART |
|
| Meta Mutation Damage Score |
0.5948 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele fail to form heminodes without overt neurological abnormalities or alteration in nerve conduction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
T |
C |
6: 131,528,313 (GRCm39) |
|
probably null |
Het |
| Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
| Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,662 (GRCm39) |
Y69H |
probably damaging |
Het |
| Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
| Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
| Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
| Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,492,995 (GRCm39) |
V93A |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,254,529 (GRCm39) |
T432M |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,321,577 (GRCm39) |
R395Q |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
Het |
|
| Other mutations in Gldn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Gldn
|
APN |
9 |
54,245,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01778:Gldn
|
APN |
9 |
54,241,776 (GRCm39) |
splice site |
probably null |
|
|
IGL02425:Gldn
|
APN |
9 |
54,246,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Gldn
|
UTSW |
9 |
54,193,849 (GRCm39) |
nonsense |
probably null |
|
|
R2902:Gldn
|
UTSW |
9 |
54,243,098 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3055:Gldn
|
UTSW |
9 |
54,245,807 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3683:Gldn
|
UTSW |
9 |
54,245,624 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3684:Gldn
|
UTSW |
9 |
54,245,624 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3732:Gldn
|
UTSW |
9 |
54,245,946 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3732:Gldn
|
UTSW |
9 |
54,245,946 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3733:Gldn
|
UTSW |
9 |
54,245,946 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3734:Gldn
|
UTSW |
9 |
54,245,946 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4668:Gldn
|
UTSW |
9 |
54,239,302 (GRCm39) |
nonsense |
probably null |
|
|
R5228:Gldn
|
UTSW |
9 |
54,242,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5574:Gldn
|
UTSW |
9 |
54,220,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Gldn
|
UTSW |
9 |
54,241,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5926:Gldn
|
UTSW |
9 |
54,245,722 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5943:Gldn
|
UTSW |
9 |
54,245,721 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6331:Gldn
|
UTSW |
9 |
54,194,162 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6821:Gldn
|
UTSW |
9 |
54,246,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6897:Gldn
|
UTSW |
9 |
54,242,158 (GRCm39) |
splice site |
probably null |
|
|
R7579:Gldn
|
UTSW |
9 |
54,245,648 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7604:Gldn
|
UTSW |
9 |
54,245,877 (GRCm39) |
missense |
probably benign |
|
|
R7705:Gldn
|
UTSW |
9 |
54,245,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9036:Gldn
|
UTSW |
9 |
54,245,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9672:Gldn
|
UTSW |
9 |
54,245,780 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Gldn
|
UTSW |
9 |
54,193,944 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCACTACAAATCACCAGTG -3'
(R):5'- TGTCTGTGACATAGAGGATCCC -3'
Sequencing Primer
(F):5'- AGTGTCCACCAACATGTGTG -3'
(R):5'- AGGATCCCTCGGGCTATGAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation