Incidental Mutation 'IGL02413:Cd248'
| ID |
292331 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd248
|
| Ensembl Gene |
ENSMUSG00000056481 |
| Gene Name |
CD248 antigen, endosialin |
| Synonyms |
2610111G01Rik, Cd164l1, Tem1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5118106-5120668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5120201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 683
(G683V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070630]
[ENSMUST00000140389]
[ENSMUST00000151413]
|
| AlphaFold |
Q91V98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070630
AA Change: G683V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: G683V
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Cd248 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2386: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation