Incidental Mutation 'IGL02405:Fcrl1'
ID |
292043 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fcrl1
|
Ensembl Gene |
ENSMUSG00000059994 |
Gene Name |
Fc receptor-like 1 |
Synonyms |
mBXMH1, A230020G22Rik, IFGP1, moFcRH1L, moFcRH1, Fcrh1, BXMAS1-like, moFcRH1S, mIFGP1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02405
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87283694-87310241 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87293074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 244
(K244Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072480]
[ENSMUST00000163661]
[ENSMUST00000167200]
[ENSMUST00000191666]
[ENSMUST00000194786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072480
AA Change: K244Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072300 Gene: ENSMUSG00000059994 AA Change: K244Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
28 |
113 |
4.03e-8 |
SMART |
IG
|
123 |
204 |
1.35e0 |
SMART |
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163661
AA Change: K264Q
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130936 Gene: ENSMUSG00000059994 AA Change: K264Q
Domain | Start | End | E-Value | Type |
IG
|
48 |
133 |
4.03e-8 |
SMART |
IG
|
143 |
224 |
1.35e0 |
SMART |
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167200
|
SMART Domains |
Protein: ENSMUSP00000128235 Gene: ENSMUSG00000059994
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
28 |
113 |
4.03e-8 |
SMART |
IG
|
123 |
204 |
1.35e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191666
|
SMART Domains |
Protein: ENSMUSP00000141916 Gene: ENSMUSG00000059994
Domain | Start | End | E-Value | Type |
IG_like
|
9 |
94 |
4.5e-2 |
SMART |
IG
|
28 |
113 |
1.7e-10 |
SMART |
IG
|
123 |
204 |
5.5e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193854
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194786
AA Change: K244Q
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142286 Gene: ENSMUSG00000059994 AA Change: K244Q
Domain | Start | End | E-Value | Type |
IG_like
|
9 |
94 |
4.5e-2 |
SMART |
IG
|
28 |
113 |
1.7e-10 |
SMART |
IG
|
123 |
204 |
5.5e-3 |
SMART |
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
Bpifa6 |
T |
A |
2: 153,832,782 (GRCm39) |
L299* |
probably null |
Het |
Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
Hgfac |
A |
G |
5: 35,201,824 (GRCm39) |
D319G |
probably benign |
Het |
Irf5 |
G |
A |
6: 29,535,760 (GRCm39) |
R258H |
probably damaging |
Het |
Mecr |
G |
A |
4: 131,590,303 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
|
Other mutations in Fcrl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Fcrl1
|
APN |
3 |
87,296,942 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01884:Fcrl1
|
APN |
3 |
87,292,044 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Fcrl1
|
APN |
3 |
87,283,794 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02231:Fcrl1
|
APN |
3 |
87,292,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Fcrl1
|
APN |
3 |
87,292,469 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02858:Fcrl1
|
APN |
3 |
87,292,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03133:Fcrl1
|
APN |
3 |
87,296,699 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03176:Fcrl1
|
APN |
3 |
87,298,564 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Fcrl1
|
APN |
3 |
87,292,398 (GRCm39) |
missense |
probably benign |
0.01 |
R1497:Fcrl1
|
UTSW |
3 |
87,292,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Fcrl1
|
UTSW |
3 |
87,292,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R1581:Fcrl1
|
UTSW |
3 |
87,293,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1778:Fcrl1
|
UTSW |
3 |
87,292,626 (GRCm39) |
splice site |
probably benign |
|
R1959:Fcrl1
|
UTSW |
3 |
87,283,827 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2928:Fcrl1
|
UTSW |
3 |
87,298,564 (GRCm39) |
missense |
probably benign |
0.19 |
R4677:Fcrl1
|
UTSW |
3 |
87,297,563 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5122:Fcrl1
|
UTSW |
3 |
87,293,081 (GRCm39) |
missense |
probably benign |
0.35 |
R5507:Fcrl1
|
UTSW |
3 |
87,298,549 (GRCm39) |
missense |
probably benign |
0.16 |
R6363:Fcrl1
|
UTSW |
3 |
87,292,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R6478:Fcrl1
|
UTSW |
3 |
87,296,946 (GRCm39) |
missense |
probably benign |
0.41 |
R6559:Fcrl1
|
UTSW |
3 |
87,298,560 (GRCm39) |
missense |
probably benign |
0.33 |
R6985:Fcrl1
|
UTSW |
3 |
87,296,957 (GRCm39) |
missense |
probably benign |
|
R7291:Fcrl1
|
UTSW |
3 |
87,293,088 (GRCm39) |
critical splice donor site |
probably null |
|
R9649:Fcrl1
|
UTSW |
3 |
87,291,918 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1177:Fcrl1
|
UTSW |
3 |
87,296,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |