Incidental Mutation 'R0064:Crlf3'
| ID |
16506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crlf3
|
| Ensembl Gene |
ENSMUSG00000017561 |
| Gene Name |
cytokine receptor-like factor 3 |
| Synonyms |
Creme9, cytor4 |
| MMRRC Submission |
038356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0064 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79937319-79971817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79948728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 239
(I239T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061283]
[ENSMUST00000103233]
[ENSMUST00000177825]
[ENSMUST00000178893]
[ENSMUST00000179855]
|
| AlphaFold |
Q9Z2L7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061283
AA Change: I239T
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060028
Gene: ENSMUSG00000017561
AA Change: I239T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
FN3
|
179 |
260 |
1.66e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000092858
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103233
AA Change: I239T
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099523
Gene: ENSMUSG00000017561
AA Change: I239T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
FN3
|
179 |
260 |
1.66e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177825
|
| SMART Domains |
Protein: ENSMUSP00000136473
Gene: ENSMUSG00000017561
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178893
|
| SMART Domains |
Protein: ENSMUSP00000137371
Gene: ENSMUSG00000017561
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179855
|
| Meta Mutation Damage Score |
0.2246 |
| Coding Region Coverage |
- 1x: 87.7%
- 3x: 83.1%
- 10x: 65.7%
- 20x: 35.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: This gene encodes a cytokine receptor-like factor that contains a fibronectin type 3 domain. The encoded protein may act as a negative regulator of the cell cycle. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lean body mass, decreased platelet cell number and increased circulating fructosamine level. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(39) : Targeted, other(2) Gene trapped(37) |
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,888,288 (GRCm39) |
I377M |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
| Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
| Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,479,349 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fgd3 |
T |
G |
13: 49,449,901 (GRCm39) |
D116A |
possibly damaging |
Het |
| Gm270 |
C |
A |
13: 49,919,367 (GRCm39) |
|
noncoding transcript |
Het |
| Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
| Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
| Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
| Pmpca |
C |
A |
2: 26,285,519 (GRCm39) |
D498E |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
| Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
|
| Other mutations in Crlf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Crlf3
|
APN |
11 |
79,950,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Crlf3
|
APN |
11 |
79,938,501 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01520:Crlf3
|
APN |
11 |
79,950,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01998:Crlf3
|
APN |
11 |
79,948,845 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02622:Crlf3
|
APN |
11 |
79,950,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02748:Crlf3
|
APN |
11 |
79,950,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Crlf3
|
UTSW |
11 |
79,948,728 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0076:Crlf3
|
UTSW |
11 |
79,947,427 (GRCm39) |
unclassified |
probably benign |
|
|
R0583:Crlf3
|
UTSW |
11 |
79,950,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1753:Crlf3
|
UTSW |
11 |
79,948,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Crlf3
|
UTSW |
11 |
79,950,081 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2571:Crlf3
|
UTSW |
11 |
79,938,339 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5894:Crlf3
|
UTSW |
11 |
79,948,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Crlf3
|
UTSW |
11 |
79,939,436 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7214:Crlf3
|
UTSW |
11 |
79,955,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7238:Crlf3
|
UTSW |
11 |
79,947,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7511:Crlf3
|
UTSW |
11 |
79,954,812 (GRCm39) |
splice site |
probably null |
|
|
R8745:Crlf3
|
UTSW |
11 |
79,955,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Crlf3
|
UTSW |
11 |
79,938,440 (GRCm39) |
missense |
|
|
|
R9297:Crlf3
|
UTSW |
11 |
79,950,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Crlf3
|
UTSW |
11 |
79,955,013 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation