Incidental Mutation 'IGL03176:Fcrl1'
ID |
412000 |
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 # |
IGL03176
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87283694-87310241 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87298564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 353
(N353I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130936
(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: N333I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072300 Gene: ENSMUSG00000059994 AA Change: N333I
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 |
probably damaging
Transcript: ENSMUST00000163661
AA Change: N353I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130936 Gene: ENSMUSG00000059994 AA Change: N353I
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 damaging
Transcript: ENSMUST00000167200
AA Change: N290I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128235 Gene: ENSMUSG00000059994 AA Change: N290I
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 |
probably benign
Transcript: ENSMUST00000194786
|
SMART Domains |
Protein: ENSMUSP00000142286 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 |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
probably benign |
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 |
IGL02405:Fcrl1
|
APN |
3 |
87,293,074 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
2016-08-02 |