Incidental Mutation 'IGL02335:Cd22'
| ID |
289706 |
| 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 # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30575559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 161
(I161T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000189718]
[ENSMUST00000190646]
[ENSMUST00000190617]
[ENSMUST00000214289]
[ENSMUST00000187989]
[ENSMUST00000188157]
[ENSMUST00000190753]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019248
AA Change: I161T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: I161T
| 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: I161T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: I161T
| 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: I161T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: I161T
| 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 damaging
Transcript: ENSMUST00000189718
AA Change: I161T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: I161T
| 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: ENSMUST00000190646
AA Change: I161T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: I161T
| 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 damaging
Transcript: ENSMUST00000190617
AA Change: I161T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: I161T
| 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 |
unknown
Transcript: ENSMUST00000214289
AA Change: I161T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187989
|
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
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 |
|
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 |
Incidental Mutation