Incidental Mutation 'IGL01014:Cd244a'
| ID |
53397 |
| 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: 0.058)
|
| Stock # |
IGL01014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171386287-171412884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171401856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 194
(Y194C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004829]
[ENSMUST00000194797]
|
| AlphaFold |
Q07763 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004829
AA Change: Y194C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004829
Gene: ENSMUSG00000004709
AA Change: Y194C
| 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 damaging
Transcript: ENSMUST00000194797
AA Change: Y194C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141898
Gene: ENSMUSG00000004709
AA Change: Y194C
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
| Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
| Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
| Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
| Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
| Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
| Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
| Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
| Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
| Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
| Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
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 |
|
|
IGL01689:Cd244a
|
APN |
1 |
171,410,462 (GRCm39) |
intron |
probably benign |
|
|
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 |
2013-06-28 |
Incidental Mutation