Incidental Mutation 'IGL01689:Cd244a'
| ID |
104061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd244a
|
| Ensembl Gene |
ENSMUSG00000004709 |
| Gene Name |
CD244 molecule A |
| Synonyms |
Cd244, Nmrk, C9.1, F730046O15Rik, 2B4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 171410462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004829]
[ENSMUST00000194797]
|
| AlphaFold |
Q07763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004829
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Blast:IG_like
|
146 |
222 |
8e-19 |
BLAST |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194797
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
26 |
128 |
4.23e-2 |
SMART |
|
Pfam:Ig_2
|
134 |
221 |
6.5e-5 |
PFAM |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195804
|
| 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 cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis. Mice homozygous for an ENU-generated allele exhibit reduced 'missing-self' targets recognition and elimination and increased clearance of B16 melanoma tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
A |
G |
1: 58,284,320 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,137,763 (GRCm39) |
|
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,202,140 (GRCm39) |
V766A |
probably benign |
Het |
| Asxl2 |
A |
T |
12: 3,546,425 (GRCm39) |
Q403L |
probably benign |
Het |
| Cdc34b |
A |
G |
11: 94,633,345 (GRCm39) |
K182E |
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,862,393 (GRCm39) |
F295L |
probably benign |
Het |
| Gm11541 |
A |
G |
11: 94,595,020 (GRCm39) |
V16A |
unknown |
Het |
| Kdr |
T |
C |
5: 76,097,500 (GRCm39) |
D1252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,447,380 (GRCm39) |
D1395G |
probably damaging |
Het |
| Lars1 |
T |
A |
18: 42,350,014 (GRCm39) |
Q930L |
probably benign |
Het |
| Lypd5 |
A |
G |
7: 24,052,054 (GRCm39) |
|
probably benign |
Het |
| Or2w1b |
G |
A |
13: 21,300,243 (GRCm39) |
C127Y |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,109,138 (GRCm39) |
|
probably null |
Het |
| Pcnt |
A |
G |
10: 76,247,487 (GRCm39) |
V1015A |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,754,116 (GRCm39) |
S285N |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,083,122 (GRCm39) |
D485G |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,033 (GRCm39) |
N124S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,330,827 (GRCm39) |
D464G |
possibly damaging |
Het |
|
| Other mutations in Cd244a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Cd244a
|
APN |
1 |
171,401,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01014:Cd244a
|
APN |
1 |
171,401,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02327:Cd244a
|
APN |
1 |
171,386,909 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0022:Cd244a
|
UTSW |
1 |
171,401,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0930:Cd244a
|
UTSW |
1 |
171,404,801 (GRCm39) |
splice site |
probably null |
|
|
R1055:Cd244a
|
UTSW |
1 |
171,404,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4587:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5517:Cd244a
|
UTSW |
1 |
171,405,542 (GRCm39) |
splice site |
probably benign |
|
|
R5929:Cd244a
|
UTSW |
1 |
171,386,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Cd244a
|
UTSW |
1 |
171,409,208 (GRCm39) |
splice site |
probably null |
|
|
R6346:Cd244a
|
UTSW |
1 |
171,404,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Cd244a
|
UTSW |
1 |
171,405,447 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6612:Cd244a
|
UTSW |
1 |
171,401,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6701:Cd244a
|
UTSW |
1 |
171,401,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6973:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Cd244a
|
UTSW |
1 |
171,404,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Cd244a
|
UTSW |
1 |
171,404,853 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7769:Cd244a
|
UTSW |
1 |
171,404,873 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8910:Cd244a
|
UTSW |
1 |
171,386,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Cd244a
|
UTSW |
1 |
171,401,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Cd244a
|
UTSW |
1 |
171,401,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF004:Cd244a
|
UTSW |
1 |
171,405,490 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cd244a
|
UTSW |
1 |
171,401,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation