Incidental Mutation 'IGL02397:Cd22'
| ID |
291713 |
| 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 # |
IGL02397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30577050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000190646]
[ENSMUST00000190617]
[ENSMUST00000188157]
[ENSMUST00000189718]
[ENSMUST00000187989]
[ENSMUST00000214289]
[ENSMUST00000190753]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019248
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: T86A
| 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: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: T86A
| 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: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: T86A
| 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: ENSMUST00000190646
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: T86A
| 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 benign
Transcript: ENSMUST00000190617
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: T86A
| 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: ENSMUST00000188157
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
31 |
147 |
1.1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189718
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: T86A
| 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: ENSMUST00000190170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187989
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214289
AA Change: T86A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190753
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,623,834 (GRCm39) |
N400S |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,511,548 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,234,149 (GRCm39) |
|
probably benign |
Het |
| Amn |
A |
T |
12: 111,240,913 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Ano10 |
C |
A |
9: 122,090,458 (GRCm39) |
R285L |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,046 (GRCm39) |
Y57C |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,926 (GRCm39) |
K786R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,525,162 (GRCm39) |
|
probably benign |
Het |
| Card9 |
C |
T |
2: 26,242,341 (GRCm39) |
D532N |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,230,690 (GRCm39) |
D842E |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,178,690 (GRCm39) |
N713S |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,756,933 (GRCm39) |
T1899A |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,801 (GRCm39) |
T381A |
probably damaging |
Het |
| Frmd7 |
G |
A |
X: 49,984,775 (GRCm39) |
T465I |
possibly damaging |
Het |
| Gm9837 |
A |
T |
11: 53,360,987 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
C |
A |
4: 116,860,333 (GRCm39) |
A816D |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,519 (GRCm39) |
W347R |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,218 (GRCm39) |
T503A |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,178,992 (GRCm39) |
E142G |
possibly damaging |
Het |
| Nabp2 |
T |
A |
10: 128,244,192 (GRCm39) |
N138I |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,967,725 (GRCm39) |
V2902A |
possibly damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,204 (GRCm39) |
D91G |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,109,474 (GRCm39) |
Y134F |
possibly damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,299,530 (GRCm39) |
F58S |
probably damaging |
Het |
| Slitrk4 |
T |
C |
X: 63,316,290 (GRCm39) |
T126A |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,438,572 (GRCm39) |
P1547T |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,306,294 (GRCm39) |
S45G |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,689,729 (GRCm39) |
T1937A |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,315,282 (GRCm39) |
I156N |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,199 (GRCm39) |
R163Q |
probably benign |
Het |
| Ythdf2 |
C |
T |
4: 131,938,757 (GRCm39) |
G13D |
probably damaging |
Het |
| Zbtb7c |
A |
T |
18: 76,270,047 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,243,890 (GRCm39) |
M740I |
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 |
|
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 |
|
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 |
30,575,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1186:Cd22
|
UTSW |
7 |
30,566,891 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Cd22
|
UTSW |
7 |
30,566,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation