Incidental Mutation 'R2386:Cd248'
| ID |
247714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd248
|
| Ensembl Gene |
ENSMUSG00000056481 |
| Gene Name |
CD248 antigen, endosialin |
| Synonyms |
2610111G01Rik, Cd164l1, Tem1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5118106-5120668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5119221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 356
(M356I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070630]
[ENSMUST00000140389]
[ENSMUST00000151413]
|
| AlphaFold |
Q91V98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070630
AA Change: M356I
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: M356I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CLECT
|
22 |
157 |
1.14e-14 |
SMART |
|
Blast:CCP
|
164 |
225 |
5e-31 |
BLAST |
|
EGF
|
234 |
272 |
5.32e-1 |
SMART |
|
EGF
|
274 |
311 |
2.08e-3 |
SMART |
|
EGF_CA
|
312 |
351 |
2.92e-7 |
SMART |
|
low complexity region
|
363 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
634 |
N/A |
INTRINSIC |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151413
|
| SMART Domains |
Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display decreased growth of implanted abdominal and intestinal tumors, but have normal wound healing and no gross morphological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
Het |
|
| Other mutations in Cd248 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02413:Cd248
|
APN |
19 |
5,120,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
solidity
|
UTSW |
19 |
5,119,383 (GRCm39) |
nonsense |
probably null |
|
|
R0130:Cd248
|
UTSW |
19 |
5,119,990 (GRCm39) |
missense |
probably benign |
|
|
R0145:Cd248
|
UTSW |
19 |
5,119,051 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1589:Cd248
|
UTSW |
19 |
5,119,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2091:Cd248
|
UTSW |
19 |
5,120,074 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2253:Cd248
|
UTSW |
19 |
5,118,154 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2381:Cd248
|
UTSW |
19 |
5,119,221 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3892:Cd248
|
UTSW |
19 |
5,119,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4259:Cd248
|
UTSW |
19 |
5,118,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4695:Cd248
|
UTSW |
19 |
5,118,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4897:Cd248
|
UTSW |
19 |
5,119,195 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4985:Cd248
|
UTSW |
19 |
5,119,820 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5491:Cd248
|
UTSW |
19 |
5,120,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Cd248
|
UTSW |
19 |
5,119,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6301:Cd248
|
UTSW |
19 |
5,120,009 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7260:Cd248
|
UTSW |
19 |
5,119,383 (GRCm39) |
nonsense |
probably null |
|
|
R8468:Cd248
|
UTSW |
19 |
5,119,910 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8824:Cd248
|
UTSW |
19 |
5,119,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9129:Cd248
|
UTSW |
19 |
5,120,140 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Cd248
|
UTSW |
19 |
5,119,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTATAGCTGCCACTGTC -3'
(R):5'- GCAATCTCTGAGGCTCTCCATC -3'
Sequencing Primer
(F):5'- TATAGCTGCCACTGTCGCCTTG -3'
(R):5'- TGAGGCTCTCCATCCTGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation