Incidental Mutation 'R6591:Cd209c'
| ID |
524578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd209c
|
| Ensembl Gene |
ENSMUSG00000040165 |
| Gene Name |
CD209c antigen |
| Synonyms |
mSIGNR2, SIGNR2 |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3990222-4004746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3995680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 41
(I41L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044060]
[ENSMUST00000208622]
|
| AlphaFold |
Q91ZW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044060
AA Change: I41L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039861
Gene: ENSMUSG00000040165
AA Change: I41L
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
48 |
169 |
7.66e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127592
|
| SMART Domains |
Protein: ENSMUSP00000120433
Gene: ENSMUSG00000040165
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208622
AA Change: I41L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208902
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Cd209c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Cd209c
|
APN |
8 |
3,990,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01340:Cd209c
|
APN |
8 |
3,995,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02682:Cd209c
|
APN |
8 |
3,990,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1311:Cd209c
|
UTSW |
8 |
3,995,908 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R1859:Cd209c
|
UTSW |
8 |
3,994,953 (GRCm39) |
missense |
probably benign |
|
|
R4374:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
|
R4375:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
|
R4377:Cd209c
|
UTSW |
8 |
4,004,635 (GRCm39) |
exon |
noncoding transcript |
|
|
R4769:Cd209c
|
UTSW |
8 |
3,994,953 (GRCm39) |
missense |
probably benign |
|
|
R4786:Cd209c
|
UTSW |
8 |
3,995,698 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4841:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4842:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4869:Cd209c
|
UTSW |
8 |
3,994,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5333:Cd209c
|
UTSW |
8 |
3,994,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Cd209c
|
UTSW |
8 |
3,995,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6369:Cd209c
|
UTSW |
8 |
3,994,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Cd209c
|
UTSW |
8 |
3,994,122 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6691:Cd209c
|
UTSW |
8 |
3,995,680 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7181:Cd209c
|
UTSW |
8 |
3,995,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8067:Cd209c
|
UTSW |
8 |
3,995,700 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8701:Cd209c
|
UTSW |
8 |
3,995,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9722:Cd209c
|
UTSW |
8 |
3,995,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGCACAGTTCTCTATGAATAC -3'
(R):5'- TTCTTTAATGCCCCTGGTGG -3'
Sequencing Primer
(F):5'- GTGTAGTTATGCCCATGCCATAGC -3'
(R):5'- CTTTAATGCCCCTGGTGGACAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation