Incidental Mutation 'R2284:Gldn'
| ID |
243247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gldn
|
| Ensembl Gene |
ENSMUSG00000046167 |
| Gene Name |
gliomedin |
| Synonyms |
CRG-L2, Crlg2 |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
111 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54193770-54249061 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 54193849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 14
(W14*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056740]
|
| AlphaFold |
Q8BMF8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056740
AA Change: W14*
|
| SMART Domains |
Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: W14*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149237
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,085,678 (GRCm39) |
S187P |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,491,193 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Iho1 |
C |
T |
9: 108,298,672 (GRCm39) |
E49K |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,581 (GRCm39) |
V81F |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,681 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
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 |
|
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 |
|
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'- ACGGGTCTAAAGACAGCCTG -3'
(R):5'- CACCATGGAGTAGGTCATCATC -3'
Sequencing Primer
(F):5'- GGGTCTAAAGACAGCCTGACTCAC -3'
(R):5'- CCATGGAGTAGGTCATCATCATCATC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation