Incidental Mutation 'IGL02858:Fcrl1'
ID |
362047 |
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 # |
IGL02858
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87283694-87310241 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87292012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 57
(Y57C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072480]
[ENSMUST00000163661]
[ENSMUST00000167200]
[ENSMUST00000191666]
[ENSMUST00000194786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072480
AA Change: Y57C
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072300 Gene: ENSMUSG00000059994 AA Change: Y57C
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: Y77C
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130936 Gene: ENSMUSG00000059994 AA Change: Y77C
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: Y57C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128235 Gene: ENSMUSG00000059994 AA Change: Y57C
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 damaging
Transcript: ENSMUST00000191666
AA Change: Y57C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141916 Gene: ENSMUSG00000059994 AA Change: Y57C
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 damaging
Transcript: ENSMUST00000194786
AA Change: Y57C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142286 Gene: ENSMUSG00000059994 AA Change: Y57C
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 |
|
Meta Mutation Damage Score |
0.5682 |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,596,599 (GRCm39) |
V126A |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,119,130 (GRCm39) |
Y3546H |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap45 |
C |
A |
10: 79,853,768 (GRCm39) |
T94N |
probably benign |
Het |
Arid1b |
T |
C |
17: 5,392,166 (GRCm39) |
S1899P |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 79,980,601 (GRCm39) |
V2E |
probably damaging |
Het |
Calr |
A |
T |
8: 85,571,528 (GRCm39) |
V155E |
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,619,422 (GRCm39) |
|
probably benign |
Het |
Chl1 |
A |
T |
6: 103,618,949 (GRCm39) |
L6F |
probably damaging |
Het |
Chrnb1 |
C |
T |
11: 69,675,935 (GRCm39) |
V436I |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,506,204 (GRCm39) |
E292G |
unknown |
Het |
Ddx56 |
A |
G |
11: 6,217,667 (GRCm39) |
L18P |
probably damaging |
Het |
Dhx36 |
A |
C |
3: 62,384,797 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,453,358 (GRCm39) |
R4376S |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,185,582 (GRCm39) |
D113V |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,512,118 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
A |
4: 98,833,442 (GRCm39) |
K1920* |
probably null |
Het |
Dysf |
A |
G |
6: 84,076,471 (GRCm39) |
D628G |
probably benign |
Het |
Exoc3l2 |
A |
G |
7: 19,229,109 (GRCm39) |
I176V |
probably benign |
Het |
Fzd4 |
C |
T |
7: 89,057,162 (GRCm39) |
T403M |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,288 (GRCm39) |
N162K |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,924 (GRCm39) |
K132* |
probably null |
Het |
Itgb2l |
A |
T |
16: 96,223,850 (GRCm39) |
W730R |
possibly damaging |
Het |
Jmjd8 |
T |
C |
17: 26,049,134 (GRCm39) |
F230S |
probably damaging |
Het |
Krt72 |
G |
A |
15: 101,690,556 (GRCm39) |
T232M |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,740,540 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
C |
2: 31,900,384 (GRCm39) |
|
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,690,507 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
A |
G |
9: 19,831,747 (GRCm39) |
M81V |
probably damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,469 (GRCm39) |
Q24R |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,822 (GRCm39) |
Y113C |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
Sall3 |
G |
T |
18: 81,012,728 (GRCm39) |
A1236E |
probably damaging |
Het |
Sipa1 |
T |
C |
19: 5,705,736 (GRCm39) |
T411A |
probably damaging |
Het |
Thsd7a |
T |
G |
6: 12,500,994 (GRCm39) |
D471A |
probably benign |
Het |
Tm2d1 |
T |
A |
4: 98,263,192 (GRCm39) |
E100D |
probably damaging |
Het |
Tmcc1 |
A |
G |
6: 116,110,849 (GRCm39) |
V148A |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,986,518 (GRCm39) |
Y19* |
probably null |
Het |
Ubr3 |
A |
G |
2: 69,783,203 (GRCm39) |
Y713C |
probably damaging |
Het |
Uevld |
A |
G |
7: 46,605,377 (GRCm39) |
V39A |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,484,003 (GRCm39) |
H732Q |
probably damaging |
Het |
Zfp629 |
A |
T |
7: 127,209,484 (GRCm39) |
F775Y |
probably damaging |
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 |
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 |
2015-12-18 |