Incidental Mutation 'R2282:Cd1d2'
| ID |
243177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd1d2
|
| Ensembl Gene |
ENSMUSG00000041750 |
| Gene Name |
CD1d2 antigen |
| Synonyms |
CD1.2, Cd1b |
| MMRRC Submission |
040281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R2282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
86893875-86896843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86894558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 109
(K109E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041920]
[ENSMUST00000192481]
[ENSMUST00000194208]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041920
AA Change: K109E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039583
Gene: ENSMUSG00000041750
AA Change: K109E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I_3
|
1 |
200 |
7.1e-87 |
PFAM |
|
IGc1
|
221 |
290 |
1.14e-16 |
SMART |
|
transmembrane domain
|
303 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192481
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194208
AA Change: K109E
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,440,697 (GRCm39) |
L232P |
probably benign |
Het |
| Ap5b1 |
A |
T |
19: 5,619,665 (GRCm39) |
T362S |
possibly damaging |
Het |
| Ash2l |
A |
G |
8: 26,325,070 (GRCm39) |
M163T |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,056,073 (GRCm39) |
Y1029C |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 54,963,597 (GRCm39) |
S829* |
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,686,359 (GRCm39) |
F1309L |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,327,448 (GRCm39) |
E2055V |
probably damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,087 (GRCm39) |
I141F |
unknown |
Het |
| Epha5 |
A |
T |
5: 84,298,269 (GRCm39) |
I542N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,791 (GRCm39) |
V1432D |
possibly damaging |
Het |
| Klf12 |
C |
T |
14: 100,137,581 (GRCm39) |
E322K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Or1j11 |
G |
A |
2: 36,312,012 (GRCm39) |
V201I |
probably benign |
Het |
| Or2y1c |
T |
G |
11: 49,361,470 (GRCm39) |
M164R |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,776 (GRCm39) |
V185A |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,124 (GRCm39) |
M2V |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,571,452 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,373,934 (GRCm39) |
G2067D |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,252,705 (GRCm39) |
M164V |
probably benign |
Het |
| Snx5 |
T |
A |
2: 144,095,595 (GRCm39) |
E355D |
probably benign |
Het |
| Tmbim6 |
T |
C |
15: 99,302,407 (GRCm39) |
F93S |
probably damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,100,754 (GRCm39) |
Q77* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,629,882 (GRCm39) |
V14216A |
possibly damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,870,859 (GRCm39) |
C808Y |
possibly damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,102 (GRCm39) |
F205S |
probably damaging |
Het |
|
| Other mutations in Cd1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0602:Cd1d2
|
UTSW |
3 |
86,895,110 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2210:Cd1d2
|
UTSW |
3 |
86,895,041 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2221:Cd1d2
|
UTSW |
3 |
86,895,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Cd1d2
|
UTSW |
3 |
86,894,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Cd1d2
|
UTSW |
3 |
86,894,861 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4854:Cd1d2
|
UTSW |
3 |
86,896,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5258:Cd1d2
|
UTSW |
3 |
86,894,954 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5765:Cd1d2
|
UTSW |
3 |
86,894,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7000:Cd1d2
|
UTSW |
3 |
86,895,080 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7468:Cd1d2
|
UTSW |
3 |
86,895,583 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7555:Cd1d2
|
UTSW |
3 |
86,894,408 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8090:Cd1d2
|
UTSW |
3 |
86,893,964 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8156:Cd1d2
|
UTSW |
3 |
86,894,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8252:Cd1d2
|
UTSW |
3 |
86,894,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAACATAAGCTGGTCCCGC -3'
(R):5'- GGTGTCCTAGAGCAGAAACC -3'
Sequencing Primer
(F):5'- GCACAGACAGCCTGATCTTG -3'
(R):5'- ACCGGCTATTTTTAGAAGGGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation