Incidental Mutation 'IGL01125:Cd300lg'
| ID |
52348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd300lg
|
| Ensembl Gene |
ENSMUSG00000017309 |
| Gene Name |
CD300 molecule like family member G |
| Synonyms |
nepmucin, D11Ertd736e, Clm9, 2310016B05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101932337-101946443 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 101945047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017453]
[ENSMUST00000017458]
[ENSMUST00000100398]
[ENSMUST00000107163]
[ENSMUST00000107164]
[ENSMUST00000123895]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017453
|
| SMART Domains |
Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
142 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
163 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017458
|
| SMART Domains |
Protein: ENSMUSP00000017458
Gene: ENSMUSG00000017314
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
11 |
66 |
1.19e-11 |
SMART |
|
L27
|
67 |
121 |
2.46e-13 |
SMART |
|
PDZ
|
149 |
219 |
1.89e-10 |
SMART |
|
SH3
|
228 |
292 |
9.77e-11 |
SMART |
|
GuKc
|
349 |
540 |
6.55e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100398
|
| SMART Domains |
Protein: ENSMUSP00000097967
Gene: ENSMUSG00000017314
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
L27
|
28 |
83 |
1.19e-11 |
SMART |
|
L27
|
84 |
138 |
2.46e-13 |
SMART |
|
PDZ
|
166 |
236 |
1.89e-10 |
SMART |
|
SH3
|
245 |
309 |
9.77e-11 |
SMART |
|
GuKc
|
366 |
557 |
6.55e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107163
|
| SMART Domains |
Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
internal_repeat_1
|
154 |
188 |
2.12e-12 |
PROSPERO |
|
internal_repeat_1
|
180 |
213 |
2.12e-12 |
PROSPERO |
|
low complexity region
|
226 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107164
|
| SMART Domains |
Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123895
|
| SMART Domains |
Protein: ENSMUSP00000120921
Gene: ENSMUSG00000017309
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
22 |
124 |
1.82e-6 |
SMART |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted allele indicates that this mutation shows no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
| Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
| Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
| Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
| Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
| Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
| Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
| Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
Het |
|
| Other mutations in Cd300lg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Cd300lg
|
APN |
11 |
101,937,901 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0129:Cd300lg
|
UTSW |
11 |
101,944,918 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0427:Cd300lg
|
UTSW |
11 |
101,933,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1401:Cd300lg
|
UTSW |
11 |
101,944,981 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1533:Cd300lg
|
UTSW |
11 |
101,934,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Cd300lg
|
UTSW |
11 |
101,933,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Cd300lg
|
UTSW |
11 |
101,937,032 (GRCm39) |
splice site |
probably benign |
|
|
R1863:Cd300lg
|
UTSW |
11 |
101,932,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1918:Cd300lg
|
UTSW |
11 |
101,944,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Cd300lg
|
UTSW |
11 |
101,932,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4591:Cd300lg
|
UTSW |
11 |
101,937,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4758:Cd300lg
|
UTSW |
11 |
101,944,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6211:Cd300lg
|
UTSW |
11 |
101,944,995 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6425:Cd300lg
|
UTSW |
11 |
101,937,749 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6470:Cd300lg
|
UTSW |
11 |
101,941,331 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7025:Cd300lg
|
UTSW |
11 |
101,933,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Cd300lg
|
UTSW |
11 |
101,937,767 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7522:Cd300lg
|
UTSW |
11 |
101,945,028 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8074:Cd300lg
|
UTSW |
11 |
101,932,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Cd300lg
|
UTSW |
11 |
101,932,390 (GRCm39) |
start gained |
probably benign |
|
|
R8922:Cd300lg
|
UTSW |
11 |
101,945,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9026:Cd300lg
|
UTSW |
11 |
101,944,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9273:Cd300lg
|
UTSW |
11 |
101,939,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Cd300lg
|
UTSW |
11 |
101,944,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-06-21 |
Incidental Mutation