Incidental Mutation 'IGL02402:Cd22'
ID |
291903 |
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 # |
IGL02402
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30564829-30579767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 30576955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 117
(H117Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000188157]
[ENSMUST00000190617]
[ENSMUST00000190646]
[ENSMUST00000189718]
[ENSMUST00000187989]
[ENSMUST00000214289]
[ENSMUST00000190753]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019248
AA Change: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000019248 Gene: ENSMUSG00000030577 AA Change: H117Q
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: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103760 Gene: ENSMUSG00000030577 AA Change: H117Q
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: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139685 Gene: ENSMUSG00000030577 AA Change: H117Q
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 |
possibly damaging
Transcript: ENSMUST00000188157
AA Change: H117Q
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140450 Gene: ENSMUSG00000030577 AA Change: H117Q
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: ENSMUST00000190617
AA Change: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139871 Gene: ENSMUSG00000030577 AA Change: H117Q
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: ENSMUST00000190646
AA Change: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140528 Gene: ENSMUSG00000030577 AA Change: H117Q
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: ENSMUST00000189718
AA Change: H117Q
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140521 Gene: ENSMUSG00000030577 AA Change: H117Q
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 |
noncoding transcript
Transcript: ENSMUST00000190170
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187989
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214289
AA Change: H117Q
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,707,543 (GRCm39) |
F568L |
probably benign |
Het |
AW112010 |
T |
A |
19: 11,025,741 (GRCm39) |
|
noncoding transcript |
Het |
Bbs4 |
A |
T |
9: 59,237,729 (GRCm39) |
L205H |
probably benign |
Het |
Bmal2 |
T |
C |
6: 146,711,266 (GRCm39) |
V90A |
possibly damaging |
Het |
C2cd2l |
T |
C |
9: 44,227,878 (GRCm39) |
K121R |
probably benign |
Het |
Car14 |
A |
G |
3: 95,806,870 (GRCm39) |
V198A |
possibly damaging |
Het |
Celf1 |
T |
A |
2: 90,829,068 (GRCm39) |
I45N |
probably damaging |
Het |
Cluh |
T |
C |
11: 74,547,997 (GRCm39) |
S103P |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 44,002,613 (GRCm39) |
L276Q |
probably benign |
Het |
Ddx27 |
T |
G |
2: 166,857,245 (GRCm39) |
|
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,279 (GRCm39) |
I49F |
possibly damaging |
Het |
Dock8 |
C |
A |
19: 25,055,509 (GRCm39) |
T157K |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,839,541 (GRCm39) |
V352A |
probably damaging |
Het |
Elmo2 |
C |
T |
2: 165,139,312 (GRCm39) |
E412K |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,733 (GRCm39) |
P30S |
possibly damaging |
Het |
Espnl |
G |
T |
1: 91,272,535 (GRCm39) |
A632S |
probably benign |
Het |
Gfod1 |
C |
A |
13: 43,354,211 (GRCm39) |
A255S |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,872,704 (GRCm39) |
K2432M |
probably damaging |
Het |
Idua |
T |
C |
5: 108,827,657 (GRCm39) |
L157P |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,555,159 (GRCm39) |
D848V |
probably damaging |
Het |
Jag1 |
C |
T |
2: 136,927,858 (GRCm39) |
S851N |
possibly damaging |
Het |
Kat6b |
T |
A |
14: 21,681,415 (GRCm39) |
F571I |
probably damaging |
Het |
Lrrc74b |
G |
A |
16: 17,376,028 (GRCm39) |
|
probably benign |
Het |
Mst1r |
A |
G |
9: 107,794,026 (GRCm39) |
K1160E |
probably damaging |
Het |
Muc19 |
C |
A |
15: 91,778,192 (GRCm39) |
|
noncoding transcript |
Het |
Nrg4 |
G |
A |
9: 55,135,198 (GRCm39) |
|
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,458,037 (GRCm39) |
I12T |
possibly damaging |
Het |
Or1o3 |
A |
G |
17: 37,574,111 (GRCm39) |
V148A |
possibly damaging |
Het |
Pold3 |
A |
G |
7: 99,749,618 (GRCm39) |
|
probably benign |
Het |
Psmd5 |
T |
C |
2: 34,747,784 (GRCm39) |
E291G |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,222,781 (GRCm39) |
V92A |
possibly damaging |
Het |
Rab44 |
T |
A |
17: 29,359,490 (GRCm39) |
H559Q |
probably benign |
Het |
Rbm6 |
T |
C |
9: 107,730,051 (GRCm39) |
D199G |
probably damaging |
Het |
Rps18-ps3 |
C |
T |
8: 107,989,754 (GRCm39) |
|
noncoding transcript |
Het |
Septin10 |
T |
C |
10: 59,006,758 (GRCm39) |
T93A |
probably benign |
Het |
Slmap |
T |
C |
14: 26,184,865 (GRCm39) |
T111A |
probably damaging |
Het |
Spata25 |
C |
T |
2: 164,670,377 (GRCm39) |
M1I |
probably null |
Het |
Spink5 |
T |
A |
18: 44,100,171 (GRCm39) |
C63S |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,302,425 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,177,567 (GRCm39) |
|
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,891,716 (GRCm39) |
N940K |
probably benign |
Het |
Tmem106b |
A |
T |
6: 13,081,600 (GRCm39) |
Q169L |
possibly damaging |
Het |
Trpm6 |
G |
T |
19: 18,764,120 (GRCm39) |
C242F |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,999,305 (GRCm39) |
M205K |
probably benign |
Het |
Utp18 |
A |
C |
11: 93,774,617 (GRCm39) |
|
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 |
|
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 |