Incidental Mutation 'R3039:Cd300ld'
| ID |
264902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300ld
|
| Ensembl Gene |
ENSMUSG00000034641 |
| Gene Name |
CD300 molecule like family member d |
| Synonyms |
MAIR-IV, 4732429D16Rik, Clm5, Cd300ld1 |
| MMRRC Submission |
040555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3039 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114873269-114880712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114877003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045075]
|
| AlphaFold |
Q8VCH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045075
AA Change: S143P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047022
Gene: ENSMUSG00000034641
AA Change: S143P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
25 |
124 |
8.85e-5 |
SMART |
|
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,830,797 (GRCm39) |
K64N |
unknown |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,317 (GRCm39) |
N228D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,228,758 (GRCm39) |
V2110A |
probably benign |
Het |
| Dusp29 |
A |
G |
14: 21,752,975 (GRCm39) |
V57A |
probably damaging |
Het |
| Gpat3 |
T |
C |
5: 101,045,671 (GRCm39) |
S432P |
possibly damaging |
Het |
| Lgi4 |
C |
T |
7: 30,759,492 (GRCm39) |
A16V |
probably benign |
Het |
| Nsmce1 |
T |
C |
7: 125,070,328 (GRCm39) |
E161G |
probably damaging |
Het |
| Pdgfa |
A |
G |
5: 138,972,114 (GRCm39) |
V95A |
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,925,547 (GRCm39) |
Y221H |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,795,534 (GRCm39) |
E179G |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,744 (GRCm39) |
S4369P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,687,428 (GRCm39) |
I201T |
possibly damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
| Other mutations in Cd300ld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01628:Cd300ld
|
APN |
11 |
114,876,999 (GRCm39) |
missense |
probably benign |
|
|
IGL01976:Cd300ld
|
APN |
11 |
114,878,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02019:Cd300ld
|
APN |
11 |
114,878,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Cd300ld
|
APN |
11 |
114,875,076 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03386:Cd300ld
|
APN |
11 |
114,874,998 (GRCm39) |
missense |
probably benign |
|
|
R2001:Cd300ld
|
UTSW |
11 |
114,878,156 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2197:Cd300ld
|
UTSW |
11 |
114,875,058 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5540:Cd300ld
|
UTSW |
11 |
114,878,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Cd300ld
|
UTSW |
11 |
114,878,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7371:Cd300ld
|
UTSW |
11 |
114,878,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Cd300ld
|
UTSW |
11 |
114,878,248 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7710:Cd300ld
|
UTSW |
11 |
114,875,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Cd300ld
|
UTSW |
11 |
114,878,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Cd300ld
|
UTSW |
11 |
114,878,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCATATGGACAGGCTAATTTGG -3'
(R):5'- TCAGTAAGTCCCGGATGGTG -3'
Sequencing Primer
(F):5'- ATGGACAGGCTAATTTGGTATTCAG -3'
(R):5'- ATGGTGGCTGGAAATTGAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation