Incidental Mutation 'R4259:Cd248'
ID |
322588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd248
|
Ensembl Gene |
ENSMUSG00000056481 |
Gene Name |
CD248 antigen, endosialin |
Synonyms |
2610111G01Rik, Cd164l1, Tem1 |
MMRRC Submission |
041072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R4259 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5118106-5120668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5118866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 238
(D238G)
|
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: D238G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070847 Gene: ENSMUSG00000056481 AA Change: D238G
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 |
|
Meta Mutation Damage Score |
0.0861 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (40/41) |
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 |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
probably damaging |
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 |
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 |
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'- CTACCTCTGCCAGTTTGGTTTTGAG -3'
(R):5'- TGGCAGCTATAGCCTTGTGG -3'
Sequencing Primer
(F):5'- TGCCTTGCCGCTTGAGG -3'
(R):5'- GCCCTCCAGGTTCACACTG -3'
|
Posted On |
2015-06-20 |