Incidental Mutation 'IGL03133:Fcrl1'
| ID |
410400 |
| 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 # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87283694-87310241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87296699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 274
(S274P)
|
| 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 benign
Transcript: ENSMUST00000072480
AA Change: S274P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: S274P
| 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 benign
Transcript: ENSMUST00000163661
AA Change: S294P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: S294P
| 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
AA Change: S231P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: S231P
| 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
AA Change: S274P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: S274P
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
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 |
|
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 |
2016-08-02 |
Incidental Mutation