Incidental Mutation 'R3684:Gldn'
| ID |
269473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gldn
|
| Ensembl Gene |
ENSMUSG00000046167 |
| Gene Name |
gliomedin |
| Synonyms |
CRG-L2, Crlg2 |
| MMRRC Submission |
040682-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R3684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
54193770-54249061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54245624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 392
(E392K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056740]
|
| AlphaFold |
Q8BMF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056740
AA Change: E392K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: E392K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
| Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
| Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
| Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
| Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
| Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
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 |
|
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 |
|
R6671:Gldn
|
UTSW |
9 |
54,245,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTGCTACAAGGATGCTTGAGC -3'
Sequencing Primer
(F):5'- AGTGTCCACCAACATGTGTG -3'
(R):5'- AAGGATGCTTGAGCCATCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation