Incidental Mutation 'R3734:Gldn'
| ID |
270009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gldn
|
| Ensembl Gene |
ENSMUSG00000046167 |
| Gene Name |
gliomedin |
| Synonyms |
CRG-L2, Crlg2 |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54193770-54249061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54245946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 499
(K499R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056740]
|
| AlphaFold |
Q8BMF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056740
AA Change: K499R
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: K499R
| 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 |
0.1463 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
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 |
|
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'- ATCCTTGTAGCACAGCTGG -3'
(R):5'- ACCGGCTAGCTTTCTGTTGG -3'
Sequencing Primer
(F):5'- CTGGATGAGAGGACATTCTCC -3'
(R):5'- TTGGGCTTGACCAAACCCTAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation