Incidental Mutation 'R0010:Cd74'
| ID |
7944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd74
|
| Ensembl Gene |
ENSMUSG00000024610 |
| Gene Name |
CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) |
| Synonyms |
CLIP, Ii |
| MMRRC Submission |
038305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R0010 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60936921-60945724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60942143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 124
(H124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050487]
[ENSMUST00000097563]
[ENSMUST00000167610]
[ENSMUST00000175934]
[ENSMUST00000176630]
|
| AlphaFold |
P04441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050487
AA Change: H124L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000057836
Gene: ENSMUSG00000024610
AA Change: H124L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC2-interact
|
1 |
112 |
2.8e-40 |
PFAM |
|
Pfam:MHCassoc_trimer
|
119 |
190 |
6e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097563
AA Change: H124L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095171
Gene: ENSMUSG00000024610
AA Change: H124L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC2-interact
|
1 |
112 |
5.3e-40 |
PFAM |
|
Pfam:MHCassoc_trimer
|
119 |
190 |
6.7e-36 |
PFAM |
|
TY
|
212 |
258 |
8.6e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167610
AA Change: H124L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126688
Gene: ENSMUSG00000024610
AA Change: H124L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC2-interact
|
1 |
112 |
5.8e-45 |
PFAM |
|
Pfam:MHCassoc_trimer
|
119 |
187 |
1.7e-34 |
PFAM |
|
TY
|
212 |
258 |
8.6e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175934
|
| SMART Domains |
Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
low complexity region
|
75 |
109 |
N/A |
INTRINSIC |
|
Pfam:Treacle
|
153 |
329 |
1.6e-12 |
PFAM |
|
Pfam:Treacle
|
321 |
792 |
6.1e-175 |
PFAM |
|
Pfam:Treacle
|
782 |
936 |
3.2e-16 |
PFAM |
|
low complexity region
|
969 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1172 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1285 |
N/A |
INTRINSIC |
|
coiled coil region
|
1306 |
1335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176630
|
| SMART Domains |
Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
6 |
38 |
5.09e-4 |
SMART |
|
Pfam:Treacle
|
108 |
323 |
2.5e-8 |
PFAM |
|
Pfam:Treacle
|
321 |
793 |
5.9e-204 |
PFAM |
|
low complexity region
|
819 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1249 |
N/A |
INTRINSIC |
|
coiled coil region
|
1270 |
1299 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1330 |
| Coding Region Coverage |
- 1x: 79.6%
- 3x: 70.9%
- 10x: 47.0%
- 20x: 26.4%
|
| Validation Efficiency |
91% (78/86) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
C |
T |
5: 81,940,250 (GRCm39) |
A1320V |
possibly damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
| Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
| Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,608,702 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
| Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
| Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
| Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
| Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
| Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
| Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
| Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
| Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cd74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Cd74
|
APN |
18 |
60,944,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01475:Cd74
|
APN |
18 |
60,943,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01867:Cd74
|
APN |
18 |
60,941,352 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03207:Cd74
|
APN |
18 |
60,944,996 (GRCm39) |
unclassified |
probably benign |
|
|
R0010:Cd74
|
UTSW |
18 |
60,936,968 (GRCm39) |
start gained |
probably benign |
|
|
R0010:Cd74
|
UTSW |
18 |
60,942,143 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0416:Cd74
|
UTSW |
18 |
60,944,486 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0652:Cd74
|
UTSW |
18 |
60,944,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Cd74
|
UTSW |
18 |
60,937,064 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1490:Cd74
|
UTSW |
18 |
60,944,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Cd74
|
UTSW |
18 |
60,944,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1869:Cd74
|
UTSW |
18 |
60,943,484 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4957:Cd74
|
UTSW |
18 |
60,942,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5433:Cd74
|
UTSW |
18 |
60,940,993 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5513:Cd74
|
UTSW |
18 |
60,944,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Cd74
|
UTSW |
18 |
60,944,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6381:Cd74
|
UTSW |
18 |
60,944,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Cd74
|
UTSW |
18 |
60,936,965 (GRCm39) |
start gained |
probably benign |
|
|
R8944:Cd74
|
UTSW |
18 |
60,943,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Cd74
|
UTSW |
18 |
60,941,364 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9256:Cd74
|
UTSW |
18 |
60,944,366 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0011:Cd74
|
UTSW |
18 |
60,944,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-11-20 |
Incidental Mutation