Incidental Mutation 'R4180:Cd300lf'
| ID |
319695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd300lf
|
| Ensembl Gene |
ENSMUSG00000047798 |
| Gene Name |
CD300 molecule like family member F |
| Synonyms |
IREM1, IgSF13, F730004D16Rik, Pigr3, CLM-1, LMIR3, DIgR2 |
| MMRRC Submission |
041016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115007040-115024818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115015089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 160
(Y160C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051264]
[ENSMUST00000067754]
[ENSMUST00000106561]
[ENSMUST00000106562]
|
| AlphaFold |
Q6SJQ7 |
| PDB Structure |
CLM-1 Mouse Myeloid Receptor Extracellular Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051264
AA Change: Y160C
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000053983
Gene: ENSMUSG00000047798
AA Change: Y160C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
26 |
125 |
2.06e-5 |
SMART |
|
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
Pfam:SIT
|
187 |
293 |
1.7e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067754
|
| SMART Domains |
Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
23 |
187 |
1.27e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106561
AA Change: Y167C
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102171
Gene: ENSMUSG00000047798
AA Change: Y167C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
26 |
125 |
2.06e-5 |
SMART |
|
low complexity region
|
130 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
191 |
N/A |
INTRINSIC |
|
Pfam:SIT
|
194 |
299 |
3.2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106562
|
| SMART Domains |
Protein: ENSMUSP00000102172
Gene: ENSMUSG00000047798
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
26 |
125 |
2.06e-5 |
SMART |
|
low complexity region
|
127 |
150 |
N/A |
INTRINSIC |
|
Pfam:SIT
|
153 |
259 |
7.4e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149335
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (52/54) |
| 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 CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,331,590 (GRCm39) |
S1326P |
possibly damaging |
Het |
| Adam22 |
T |
G |
5: 8,199,218 (GRCm39) |
D246A |
probably damaging |
Het |
| Bmf |
T |
C |
2: 118,363,018 (GRCm39) |
|
probably benign |
Het |
| Chuk |
G |
A |
19: 44,090,279 (GRCm39) |
A71V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,309,473 (GRCm39) |
G1060E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,904,973 (GRCm39) |
V634A |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,039 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fam184b |
T |
C |
5: 45,697,106 (GRCm39) |
E686G |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,712,854 (GRCm39) |
D195V |
possibly damaging |
Het |
| Glis2 |
T |
C |
16: 4,429,240 (GRCm39) |
S148P |
probably benign |
Het |
| Gm8587 |
C |
T |
12: 88,056,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,811 (GRCm39) |
W687R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,230,430 (GRCm39) |
L119P |
probably damaging |
Het |
| Itga9 |
T |
C |
9: 118,436,146 (GRCm39) |
Y51H |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,616,383 (GRCm39) |
H316L |
probably benign |
Het |
| Klf4 |
C |
T |
4: 55,530,884 (GRCm39) |
G26R |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,049,711 (GRCm39) |
V605A |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,413 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,915 (GRCm39) |
Y681C |
probably damaging |
Het |
| Nub1 |
T |
C |
5: 24,897,875 (GRCm39) |
I87T |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,242 (GRCm39) |
V37D |
probably damaging |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,898 (GRCm39) |
V256D |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,332,261 (GRCm39) |
|
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,538,155 (GRCm39) |
S79G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
T |
16: 37,068,242 (GRCm39) |
C315S |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,631,954 (GRCm39) |
L301P |
probably damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,878,405 (GRCm39) |
|
probably null |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
T |
C |
2: 120,907,442 (GRCm39) |
I94V |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trbv4 |
A |
C |
6: 41,036,646 (GRCm39) |
D57A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,192,426 (GRCm39) |
D396G |
probably benign |
Het |
| Txnrd2 |
C |
G |
16: 18,245,175 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,589 (GRCm39) |
N784S |
probably benign |
Het |
| Zfp459 |
G |
T |
13: 67,556,562 (GRCm39) |
L174I |
probably benign |
Het |
|
| Other mutations in Cd300lf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Cd300lf
|
APN |
11 |
115,015,159 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01364:Cd300lf
|
APN |
11 |
115,017,176 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01419:Cd300lf
|
APN |
11 |
115,017,180 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01812:Cd300lf
|
APN |
11 |
115,011,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03217:Cd300lf
|
APN |
11 |
115,015,117 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1889:Cd300lf
|
UTSW |
11 |
115,011,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3899:Cd300lf
|
UTSW |
11 |
115,015,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Cd300lf
|
UTSW |
11 |
115,007,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Cd300lf
|
UTSW |
11 |
115,017,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6267:Cd300lf
|
UTSW |
11 |
115,015,195 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6296:Cd300lf
|
UTSW |
11 |
115,015,195 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8920:Cd300lf
|
UTSW |
11 |
115,017,180 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8946:Cd300lf
|
UTSW |
11 |
115,024,738 (GRCm39) |
start gained |
probably benign |
|
|
R9380:Cd300lf
|
UTSW |
11 |
115,015,153 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9548:Cd300lf
|
UTSW |
11 |
115,007,858 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGTTCCAGGATTAGGGC -3'
(R):5'- ATAGCTTTGCTCCAGGGTCC -3'
Sequencing Primer
(F):5'- CTCCCTGGGAACTGAAGGC -3'
(R):5'- ACTCCCTCACAGGTGCAGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation