Incidental Mutation 'IGL02585:Cd38'
| ID |
299508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd38
|
| Ensembl Gene |
ENSMUSG00000029084 |
| Gene Name |
CD38 antigen |
| Synonyms |
Cd38-rs1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
44026153-44069714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44067644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 292
(V292M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030964]
[ENSMUST00000122204]
[ENSMUST00000200338]
|
| AlphaFold |
P56528 |
| PDB Structure |
Crystal structure of the truncated extracellular domain of mouse CD38 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030964
AA Change: V292M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: V292M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Rib_hydrolayse
|
59 |
300 |
2.9e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122204
|
| SMART Domains |
Protein: ENSMUSP00000142767
Gene: ENSMUSG00000033036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
176 |
5.8e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200338
|
| SMART Domains |
Protein: ENSMUSP00000142776
Gene: ENSMUSG00000033036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
14 |
132 |
8.3e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Knockout mice deficient for this gene display altered humoral immune responses. In addition, knockout mice exhibit higher locomotor activity and defects in nurturing and social behaviors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion. [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 |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,964,802 (GRCm39) |
M1K |
probably null |
Het |
| Inmt |
T |
A |
6: 55,150,431 (GRCm39) |
I69F |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,025 (GRCm39) |
Q381R |
probably benign |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,166,135 (GRCm39) |
D212G |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,679 (GRCm39) |
T82A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Cd38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Cd38
|
APN |
5 |
44,060,939 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01691:Cd38
|
APN |
5 |
44,060,928 (GRCm39) |
splice site |
probably benign |
|
|
paradiso
|
UTSW |
5 |
44,060,927 (GRCm39) |
splice site |
probably null |
|
|
IGL02796:Cd38
|
UTSW |
5 |
44,063,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Cd38
|
UTSW |
5 |
44,026,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Cd38
|
UTSW |
5 |
44,060,927 (GRCm39) |
splice site |
probably null |
|
|
R1621:Cd38
|
UTSW |
5 |
44,058,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2353:Cd38
|
UTSW |
5 |
44,065,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2366:Cd38
|
UTSW |
5 |
44,060,932 (GRCm39) |
splice site |
probably benign |
|
|
R2860:Cd38
|
UTSW |
5 |
44,058,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Cd38
|
UTSW |
5 |
44,058,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4343:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4344:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Cd38
|
UTSW |
5 |
44,064,887 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5007:Cd38
|
UTSW |
5 |
44,063,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Cd38
|
UTSW |
5 |
44,026,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5699:Cd38
|
UTSW |
5 |
44,057,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Cd38
|
UTSW |
5 |
44,063,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6945:Cd38
|
UTSW |
5 |
44,065,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Cd38
|
UTSW |
5 |
44,067,651 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7825:Cd38
|
UTSW |
5 |
44,058,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Cd38
|
UTSW |
5 |
44,057,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Cd38
|
UTSW |
5 |
44,058,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9558:Cd38
|
UTSW |
5 |
44,057,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation