Incidental Mutation 'IGL02321:Cd22'
ID |
288236 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd22
|
Ensembl Gene |
ENSMUSG00000030577 |
Gene Name |
CD22 antigen |
Synonyms |
Lyb8, Lyb-8 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02321
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30569308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 603
(S603P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000189718]
[ENSMUST00000190617]
[ENSMUST00000214289]
[ENSMUST00000190646]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019248
AA Change: S603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019248 Gene: ENSMUSG00000030577 AA Change: S603P
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 damaging
Transcript: ENSMUST00000108125
AA Change: S603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103760 Gene: ENSMUSG00000030577 AA Change: S603P
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 damaging
Transcript: ENSMUST00000186154
AA Change: S603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139685 Gene: ENSMUSG00000030577 AA Change: S603P
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 damaging
Transcript: ENSMUST00000189718
AA Change: S603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140521 Gene: ENSMUSG00000030577 AA Change: S603P
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 damaging
Transcript: ENSMUST00000190617
AA Change: S603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139871 Gene: ENSMUSG00000030577 AA Change: S603P
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: ENSMUST00000214289
AA Change: S429P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
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 |
|
Meta Mutation Damage Score |
0.9391 |
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
C |
T |
8: 123,506,853 (GRCm39) |
R49C |
possibly damaging |
Het |
Alg2 |
T |
C |
4: 47,474,249 (GRCm39) |
Y13C |
probably benign |
Het |
Apoa4 |
A |
G |
9: 46,154,218 (GRCm39) |
D273G |
probably damaging |
Het |
Axl |
C |
T |
7: 25,458,194 (GRCm39) |
V854I |
probably damaging |
Het |
Bicral |
A |
G |
17: 47,122,873 (GRCm39) |
S673P |
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,902,190 (GRCm39) |
S40P |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,871,107 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
A |
G |
19: 4,891,059 (GRCm39) |
E517G |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
Chml |
G |
A |
1: 175,519,900 (GRCm39) |
P68L |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,246,056 (GRCm39) |
E1476G |
probably benign |
Het |
Cstdc6 |
A |
G |
16: 36,143,388 (GRCm39) |
|
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,033,139 (GRCm39) |
V41A |
probably damaging |
Het |
Gm4781 |
T |
A |
10: 100,232,752 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
A |
T |
5: 124,137,953 (GRCm39) |
I760F |
probably damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,614 (GRCm39) |
L476P |
probably benign |
Het |
Isyna1 |
A |
G |
8: 71,048,920 (GRCm39) |
N333S |
probably damaging |
Het |
Kcnmb1 |
A |
T |
11: 33,920,091 (GRCm39) |
|
probably benign |
Het |
Mark4 |
T |
C |
7: 19,160,314 (GRCm39) |
T649A |
probably benign |
Het |
Mgat1 |
T |
C |
11: 49,152,536 (GRCm39) |
F340L |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Mmaa |
T |
G |
8: 80,000,759 (GRCm39) |
Y233S |
probably damaging |
Het |
Ntsr1 |
G |
T |
2: 180,180,627 (GRCm39) |
|
probably null |
Het |
Or2o1 |
T |
G |
11: 49,051,602 (GRCm39) |
Y254D |
probably damaging |
Het |
Orm2 |
T |
C |
4: 63,281,229 (GRCm39) |
Y56H |
probably damaging |
Het |
Pex26 |
C |
T |
6: 121,170,468 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
C |
T |
9: 105,521,677 (GRCm39) |
A81V |
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,548,340 (GRCm39) |
S22P |
probably benign |
Het |
Prr14l |
G |
T |
5: 32,985,151 (GRCm39) |
T1448K |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,254,736 (GRCm39) |
Y799* |
probably null |
Het |
Ryr1 |
A |
C |
7: 28,778,121 (GRCm39) |
L2132R |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,421,325 (GRCm39) |
|
probably null |
Het |
Sirt5 |
C |
T |
13: 43,533,164 (GRCm39) |
T164I |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,376,977 (GRCm39) |
V429A |
probably benign |
Het |
Spen |
T |
C |
4: 141,244,441 (GRCm39) |
D198G |
unknown |
Het |
Syne2 |
A |
G |
12: 75,965,773 (GRCm39) |
N832D |
possibly damaging |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Vmn1r191 |
T |
A |
13: 22,363,068 (GRCm39) |
R229* |
probably null |
Het |
Vps53 |
C |
T |
11: 75,939,364 (GRCm39) |
D680N |
possibly damaging |
Het |
Wbp1l |
G |
T |
19: 46,642,749 (GRCm39) |
G234V |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,070,475 (GRCm39) |
S1098T |
probably damaging |
Het |
Yod1 |
T |
A |
1: 130,646,688 (GRCm39) |
D188E |
probably damaging |
Het |
Zbtb25 |
T |
C |
12: 76,396,907 (GRCm39) |
D105G |
probably damaging |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |