Incidental Mutation 'R0926:Cd22'
| ID |
83199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb8, Lyb-8 |
| MMRRC Submission |
039073-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 30568934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000189718]
[ENSMUST00000190646]
[ENSMUST00000190617]
[ENSMUST00000214289]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019248
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
| 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 null
Transcript: ENSMUST00000108125
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
| 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 null
Transcript: ENSMUST00000186154
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
| 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: ENSMUST00000187989
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189718
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
| 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: ENSMUST00000189996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190646
|
| SMART Domains |
Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
| 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 |
probably null
Transcript: ENSMUST00000190617
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
| 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 null
Transcript: ENSMUST00000214289
|
| Meta Mutation Damage Score |
0.9587 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
| Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
| Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
| Camsap3 |
G |
A |
8: 3,637,960 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
| Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
| Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
| Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,970,909 (GRCm39) |
Y1229N |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
| H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
| Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
| Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,981,340 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
| Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
| Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
| Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,964 (GRCm39) |
S523P |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,338 (GRCm39) |
D1056G |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
| Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
| Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
| She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
| Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
| Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
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 |
|
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 |
|
|
R5179:Cd22
|
UTSW |
7 |
30,575,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- ATCCATCAAGGGCGAGATTGGC -3'
(R):5'- AACCTCCAAGTGCTGTGTGAGTG -3'
Sequencing Primer
(F):5'- GGGCGAGATTGGCATGTAG -3'
(R):5'- CTGTGAGAGTGATGCCAATCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation