Incidental Mutation 'IGL01884:Fcrl1'
| ID |
179074 |
| 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 # |
IGL01884
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87283694-87310241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87292044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 68
(K68E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000072480
AA Change: K68E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: K68E
| 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: K88E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: K88E
| 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: K68E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: K68E
| 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: K68E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994
AA Change: K68E
| 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: K68E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: K68E
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
G |
A |
8: 121,335,774 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,860,191 (GRCm39) |
G206R |
unknown |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,663 (GRCm39) |
Y426H |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,875,711 (GRCm39) |
V137A |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hacd1 |
G |
A |
2: 14,040,593 (GRCm39) |
P221S |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,494,110 (GRCm39) |
T535I |
probably damaging |
Het |
| Lce1f |
G |
T |
3: 92,626,608 (GRCm39) |
C16* |
probably null |
Het |
| Lrba |
C |
T |
3: 86,217,719 (GRCm39) |
A543V |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,174,225 (GRCm39) |
C676* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,816,273 (GRCm39) |
K617E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,820 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
T |
16: 34,809,247 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,325,329 (GRCm39) |
|
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,697 (GRCm39) |
K320E |
probably benign |
Het |
| Pcdhb5 |
C |
T |
18: 37,454,387 (GRCm39) |
P256S |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,823,464 (GRCm39) |
E464G |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,431,803 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Setd7 |
T |
C |
3: 51,450,132 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,526 (GRCm39) |
Y920H |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,735 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation