Incidental Mutation 'R6211:Cd300lg'
| ID |
503469 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101932337-101946443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101944995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 358
(M358V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102781
(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
AA Change: M274V
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309
AA Change: M274V
| 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 |
possibly damaging
Transcript: ENSMUST00000107163
AA Change: M358V
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309
AA Change: M358V
| 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
AA Change: M402V
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309
AA Change: M402V
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,881,503 (GRCm39) |
W391R |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,726,473 (GRCm39) |
S18R |
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,301,614 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
G |
T |
10: 41,506,141 (GRCm39) |
S883* |
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,246,600 (GRCm39) |
V949A |
possibly damaging |
Het |
| Cenpo |
C |
T |
12: 4,266,733 (GRCm39) |
S126N |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,243,503 (GRCm39) |
D1366E |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,078,248 (GRCm39) |
E169G |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,378,440 (GRCm39) |
T24A |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,528,145 (GRCm39) |
I558V |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,415,826 (GRCm39) |
R1440S |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,708,727 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,517,187 (GRCm39) |
V158A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,795 (GRCm39) |
M3781T |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,146,217 (GRCm39) |
R95Q |
probably damaging |
Het |
| Elovl5 |
C |
A |
9: 77,888,784 (GRCm39) |
T217K |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,737,260 (GRCm39) |
M358I |
probably damaging |
Het |
| Fbxl13 |
C |
T |
5: 21,689,019 (GRCm39) |
R763Q |
possibly damaging |
Het |
| Gabrr3 |
C |
A |
16: 59,268,471 (GRCm39) |
N361K |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,429 (GRCm39) |
H1035Q |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,251,754 (GRCm39) |
M534V |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,003,017 (GRCm39) |
T162I |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,435,897 (GRCm39) |
L658Q |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,955,602 (GRCm39) |
Y1306C |
probably damaging |
Het |
| Homer3 |
C |
T |
8: 70,738,174 (GRCm39) |
R49C |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 87,998,822 (GRCm39) |
N308D |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,198,320 (GRCm39) |
T555M |
probably damaging |
Het |
| Lrfn5 |
G |
T |
12: 61,886,256 (GRCm39) |
V15L |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,952,458 (GRCm39) |
K493E |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,525,889 (GRCm39) |
I77T |
probably damaging |
Het |
| Mavs |
G |
T |
2: 131,082,311 (GRCm39) |
R65L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,696,269 (GRCm39) |
D1217E |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,599 (GRCm39) |
F175I |
possibly damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,954 (GRCm39) |
Y220* |
probably null |
Het |
| Or9i1 |
A |
G |
19: 13,839,938 (GRCm39) |
I260M |
probably benign |
Het |
| Otof |
C |
A |
5: 30,529,244 (GRCm39) |
V1762L |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,374 (GRCm39) |
L31P |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,344,368 (GRCm39) |
D1759E |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,596,617 (GRCm39) |
F33Y |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 149,967,591 (GRCm39) |
|
probably null |
Het |
| Slc23a4 |
A |
T |
6: 34,933,896 (GRCm39) |
I202N |
probably damaging |
Het |
| Slc24a5 |
A |
T |
2: 124,930,171 (GRCm39) |
I491F |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,775 (GRCm39) |
K625N |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,547,030 (GRCm39) |
V51A |
probably damaging |
Het |
| Sox6 |
G |
T |
7: 115,400,697 (GRCm39) |
H48Q |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,587 (GRCm39) |
Y114* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,736,314 (GRCm39) |
|
probably null |
Het |
| Tpsb2 |
G |
A |
17: 25,586,737 (GRCm39) |
A250T |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,760,492 (GRCm39) |
I131T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,976,554 (GRCm39) |
|
probably null |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,527 (GRCm39) |
I737F |
probably damaging |
Het |
| Wdr46 |
C |
A |
17: 34,163,459 (GRCm39) |
T339K |
probably damaging |
Het |
|
| Other mutations in Cd300lg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Cd300lg
|
APN |
11 |
101,945,047 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATATACAAATGAGATGGGGCTAG -3'
(R):5'- AAGTACCATCCGGGCTTCAG -3'
Sequencing Primer
(F):5'- TAGGGAGGCTCTGCAGC -3'
(R):5'- AAGACACTTCTCCATCTGGGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation