Incidental Mutation 'R5179:Cd22'
| ID |
399388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb8, Lyb-8 |
| MMRRC Submission |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30575299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 248
(T248S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000190617]
[ENSMUST00000189718]
[ENSMUST00000190646]
[ENSMUST00000214289]
[ENSMUST00000187989]
[ENSMUST00000190753]
[ENSMUST00000188157]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019248
AA Change: T248S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
2.75e-1 |
SMART |
|
IG_like
|
156 |
254 |
4.07e1 |
SMART |
|
IGc2
|
269 |
337 |
2.68e-4 |
SMART |
|
IGc2
|
365 |
424 |
4.52e-11 |
SMART |
|
IG
|
448 |
523 |
1.21e-2 |
SMART |
|
IGc2
|
541 |
599 |
6.75e-10 |
SMART |
|
IGc2
|
628 |
687 |
2.68e-4 |
SMART |
|
transmembrane domain
|
709 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108125
AA Change: T248S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
2.75e-1 |
SMART |
|
IG_like
|
156 |
254 |
4.07e1 |
SMART |
|
IGc2
|
269 |
337 |
2.68e-4 |
SMART |
|
IGc2
|
365 |
424 |
4.52e-11 |
SMART |
|
IG
|
448 |
523 |
1.21e-2 |
SMART |
|
IGc2
|
541 |
599 |
6.75e-10 |
SMART |
|
IGc2
|
628 |
687 |
2.68e-4 |
SMART |
|
transmembrane domain
|
709 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186154
AA Change: T248S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
2.75e-1 |
SMART |
|
IG_like
|
156 |
254 |
4.07e1 |
SMART |
|
IGc2
|
269 |
337 |
2.68e-4 |
SMART |
|
IGc2
|
365 |
424 |
4.52e-11 |
SMART |
|
IG
|
448 |
523 |
1.21e-2 |
SMART |
|
IGc2
|
541 |
599 |
6.75e-10 |
SMART |
|
IGc2
|
628 |
687 |
2.68e-4 |
SMART |
|
transmembrane domain
|
709 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190617
AA Change: T248S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
2.75e-1 |
SMART |
|
IG_like
|
156 |
254 |
4.07e1 |
SMART |
|
IGc2
|
269 |
337 |
2.68e-4 |
SMART |
|
IGc2
|
365 |
424 |
4.52e-11 |
SMART |
|
IG
|
448 |
523 |
1.21e-2 |
SMART |
|
IGc2
|
541 |
599 |
6.75e-10 |
SMART |
|
IGc2
|
628 |
687 |
2.68e-4 |
SMART |
|
transmembrane domain
|
709 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189718
AA Change: T248S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
2.75e-1 |
SMART |
|
IG_like
|
156 |
254 |
4.07e1 |
SMART |
|
IGc2
|
269 |
337 |
2.68e-4 |
SMART |
|
IGc2
|
365 |
424 |
4.52e-11 |
SMART |
|
IG
|
448 |
523 |
1.21e-2 |
SMART |
|
IGc2
|
541 |
599 |
6.75e-10 |
SMART |
|
IGc2
|
628 |
687 |
2.68e-4 |
SMART |
|
transmembrane domain
|
709 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190646
AA Change: T248S
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: T248S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
1.1e-3 |
SMART |
|
IG_like
|
166 |
245 |
1.6e-2 |
SMART |
|
IGc2
|
269 |
337 |
1.1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214289
AA Change: T248S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188157
|
| SMART Domains |
Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
1.1e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1247 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice have reduced mature B cell numbers with altered proliferation kinetics and reduced antibody production to T cell independent antigens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
Het |
|
| Other mutations in Cd22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Cd22
|
APN |
7 |
30,575,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02236:Cd22
|
APN |
7 |
30,566,893 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02321:Cd22
|
APN |
7 |
30,569,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Cd22
|
APN |
7 |
30,575,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Cd22
|
APN |
7 |
30,577,050 (GRCm39) |
missense |
probably benign |
|
|
IGL02402:Cd22
|
APN |
7 |
30,576,955 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02538:Cd22
|
APN |
7 |
30,576,985 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02736:Cd22
|
APN |
7 |
30,577,470 (GRCm39) |
splice site |
probably null |
|
|
blitz
|
UTSW |
7 |
30,569,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
crullers
|
UTSW |
7 |
30,569,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
gansu
|
UTSW |
7 |
30,569,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lacrima
|
UTSW |
7 |
30,575,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lluvia
|
UTSW |
7 |
30,569,912 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Mist
|
UTSW |
7 |
30,566,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rain
|
UTSW |
7 |
30,576,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
well
|
UTSW |
7 |
30,577,212 (GRCm39) |
nonsense |
probably null |
|
|
Yosemite
|
UTSW |
7 |
30,568,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
FR4304:Cd22
|
UTSW |
7 |
30,577,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
FR4340:Cd22
|
UTSW |
7 |
30,577,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
FR4342:Cd22
|
UTSW |
7 |
30,577,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
FR4589:Cd22
|
UTSW |
7 |
30,577,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
LCD18:Cd22
|
UTSW |
7 |
30,577,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4142001:Cd22
|
UTSW |
7 |
30,577,224 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0123:Cd22
|
UTSW |
7 |
30,566,533 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Cd22
|
UTSW |
7 |
30,569,389 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0926:Cd22
|
UTSW |
7 |
30,568,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1245:Cd22
|
UTSW |
7 |
30,569,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Cd22
|
UTSW |
7 |
30,569,912 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1457:Cd22
|
UTSW |
7 |
30,572,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1716:Cd22
|
UTSW |
7 |
30,577,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Cd22
|
UTSW |
7 |
30,572,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Cd22
|
UTSW |
7 |
30,572,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2061:Cd22
|
UTSW |
7 |
30,575,581 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2061:Cd22
|
UTSW |
7 |
30,569,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Cd22
|
UTSW |
7 |
30,569,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Cd22
|
UTSW |
7 |
30,566,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Cd22
|
UTSW |
7 |
30,569,532 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4599:Cd22
|
UTSW |
7 |
30,575,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4701:Cd22
|
UTSW |
7 |
30,575,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Cd22
|
UTSW |
7 |
30,572,381 (GRCm39) |
splice site |
probably null |
|
|
R5233:Cd22
|
UTSW |
7 |
30,576,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5456:Cd22
|
UTSW |
7 |
30,575,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5511:Cd22
|
UTSW |
7 |
30,569,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Cd22
|
UTSW |
7 |
30,566,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5611:Cd22
|
UTSW |
7 |
30,577,575 (GRCm39) |
unclassified |
probably benign |
|
|
R5656:Cd22
|
UTSW |
7 |
30,569,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Cd22
|
UTSW |
7 |
30,566,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Cd22
|
UTSW |
7 |
30,577,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6356:Cd22
|
UTSW |
7 |
30,577,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Cd22
|
UTSW |
7 |
30,575,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Cd22
|
UTSW |
7 |
30,576,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6656:Cd22
|
UTSW |
7 |
30,577,182 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6688:Cd22
|
UTSW |
7 |
30,572,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6844:Cd22
|
UTSW |
7 |
30,572,856 (GRCm39) |
splice site |
probably null |
|
|
R6957:Cd22
|
UTSW |
7 |
30,566,999 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7068:Cd22
|
UTSW |
7 |
30,577,504 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7083:Cd22
|
UTSW |
7 |
30,567,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7225:Cd22
|
UTSW |
7 |
30,577,059 (GRCm39) |
missense |
not run |
|
|
R7732:Cd22
|
UTSW |
7 |
30,569,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Cd22
|
UTSW |
7 |
30,569,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8851:Cd22
|
UTSW |
7 |
30,577,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8987:Cd22
|
UTSW |
7 |
30,577,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Cd22
|
UTSW |
7 |
30,575,449 (GRCm39) |
missense |
probably benign |
|
|
R9098:Cd22
|
UTSW |
7 |
30,567,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9124:Cd22
|
UTSW |
7 |
30,572,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9167:Cd22
|
UTSW |
7 |
30,575,430 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9319:Cd22
|
UTSW |
7 |
30,569,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Cd22
|
UTSW |
7 |
30,576,999 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0025:Cd22
|
UTSW |
7 |
30,572,844 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Cd22
|
UTSW |
7 |
30,568,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cd22
|
UTSW |
7 |
30,567,388 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1186:Cd22
|
UTSW |
7 |
30,566,891 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Cd22
|
UTSW |
7 |
30,566,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1186:Cd22
|
UTSW |
7 |
30,575,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTCAGGCCAAGGCAGAG -3'
(R):5'- TAGAAGATTCTGAGATCACCTCCATC -3'
Sequencing Primer
(F):5'- GGCTAAAATGAACCTGTGTCTTGAG -3'
(R):5'- GATTCTGAGATCACCTCCATCACCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation