Incidental Mutation 'R5656:Cd22'
ID |
501230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd22
|
Ensembl Gene |
ENSMUSG00000030577 |
Gene Name |
CD22 antigen |
Synonyms |
Lyb-8, Lyb8 |
MMRRC Submission |
043302-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5656 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30865402-30880342 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 30869773 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 612
(Y612S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000189718]
[ENSMUST00000190617]
[ENSMUST00000190646]
[ENSMUST00000214289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019248
AA Change: Y612S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019248 Gene: ENSMUSG00000030577 AA Change: Y612S
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: Y612S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103760 Gene: ENSMUSG00000030577 AA Change: Y612S
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: Y612S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139685 Gene: ENSMUSG00000030577 AA Change: Y612S
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: Y612S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140521 Gene: ENSMUSG00000030577 AA Change: Y612S
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: Y612S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139871 Gene: ENSMUSG00000030577 AA Change: Y612S
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
|
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 |
possibly damaging
Transcript: ENSMUST00000214289
AA Change: Y438S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,569,934 (GRCm38) |
V414A |
probably benign |
Het |
Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,797,632 (GRCm38) |
N852K |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 70,786,221 (GRCm38) |
T496A |
probably damaging |
Het |
Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
Nlrp4f |
G |
A |
13: 65,190,871 (GRCm38) |
R651* |
probably null |
Het |
Olfr1480 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
Olfr397 |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
Olfr497 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
Sult1c1 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,637,982 (GRCm38) |
V233A |
probably benign |
Het |
|
Other mutations in Cd22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00714:Cd22
|
APN |
7 |
30,876,147 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02236:Cd22
|
APN |
7 |
30,867,468 (GRCm38) |
missense |
possibly damaging |
0.54 |
IGL02321:Cd22
|
APN |
7 |
30,869,883 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02335:Cd22
|
APN |
7 |
30,876,134 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02397:Cd22
|
APN |
7 |
30,877,625 (GRCm38) |
missense |
probably benign |
|
IGL02402:Cd22
|
APN |
7 |
30,877,530 (GRCm38) |
missense |
possibly damaging |
0.86 |
IGL02538:Cd22
|
APN |
7 |
30,877,560 (GRCm38) |
missense |
probably benign |
0.40 |
IGL02736:Cd22
|
APN |
7 |
30,878,045 (GRCm38) |
splice site |
probably null |
|
blitz
|
UTSW |
7 |
30,869,904 (GRCm38) |
missense |
probably damaging |
1.00 |
crullers
|
UTSW |
7 |
30,869,883 (GRCm38) |
missense |
probably damaging |
1.00 |
gansu
|
UTSW |
7 |
30,870,105 (GRCm38) |
missense |
probably damaging |
1.00 |
lacrima
|
UTSW |
7 |
30,876,153 (GRCm38) |
missense |
probably damaging |
1.00 |
Lluvia
|
UTSW |
7 |
30,870,487 (GRCm38) |
missense |
possibly damaging |
0.48 |
Mist
|
UTSW |
7 |
30,866,658 (GRCm38) |
missense |
probably damaging |
1.00 |
rain
|
UTSW |
7 |
30,877,534 (GRCm38) |
missense |
probably damaging |
1.00 |
well
|
UTSW |
7 |
30,877,787 (GRCm38) |
nonsense |
probably null |
|
Yosemite
|
UTSW |
7 |
30,869,509 (GRCm38) |
critical splice donor site |
probably null |
|
FR4304:Cd22
|
UTSW |
7 |
30,878,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
FR4340:Cd22
|
UTSW |
7 |
30,878,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
FR4342:Cd22
|
UTSW |
7 |
30,878,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
FR4589:Cd22
|
UTSW |
7 |
30,878,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
LCD18:Cd22
|
UTSW |
7 |
30,878,082 (GRCm38) |
missense |
possibly damaging |
0.95 |
PIT4142001:Cd22
|
UTSW |
7 |
30,877,799 (GRCm38) |
missense |
possibly damaging |
0.92 |
R0123:Cd22
|
UTSW |
7 |
30,867,108 (GRCm38) |
splice site |
probably benign |
|
R0130:Cd22
|
UTSW |
7 |
30,869,964 (GRCm38) |
missense |
possibly damaging |
0.92 |
R0926:Cd22
|
UTSW |
7 |
30,869,509 (GRCm38) |
critical splice donor site |
probably null |
|
R1245:Cd22
|
UTSW |
7 |
30,869,883 (GRCm38) |
missense |
probably damaging |
1.00 |
R1332:Cd22
|
UTSW |
7 |
30,870,487 (GRCm38) |
missense |
possibly damaging |
0.48 |
R1457:Cd22
|
UTSW |
7 |
30,873,170 (GRCm38) |
missense |
probably benign |
0.07 |
R1716:Cd22
|
UTSW |
7 |
30,877,678 (GRCm38) |
missense |
probably damaging |
1.00 |
R1980:Cd22
|
UTSW |
7 |
30,873,233 (GRCm38) |
missense |
probably damaging |
1.00 |
R2017:Cd22
|
UTSW |
7 |
30,872,780 (GRCm38) |
missense |
probably damaging |
0.99 |
R2061:Cd22
|
UTSW |
7 |
30,876,156 (GRCm38) |
missense |
probably benign |
0.03 |
R2061:Cd22
|
UTSW |
7 |
30,870,105 (GRCm38) |
missense |
probably damaging |
1.00 |
R2075:Cd22
|
UTSW |
7 |
30,869,698 (GRCm38) |
missense |
probably damaging |
1.00 |
R2216:Cd22
|
UTSW |
7 |
30,867,046 (GRCm38) |
missense |
probably damaging |
1.00 |
R3886:Cd22
|
UTSW |
7 |
30,870,107 (GRCm38) |
missense |
possibly damaging |
0.57 |
R4599:Cd22
|
UTSW |
7 |
30,875,900 (GRCm38) |
missense |
probably damaging |
0.98 |
R4701:Cd22
|
UTSW |
7 |
30,876,153 (GRCm38) |
missense |
probably damaging |
1.00 |
R4796:Cd22
|
UTSW |
7 |
30,872,956 (GRCm38) |
splice site |
probably null |
|
R5179:Cd22
|
UTSW |
7 |
30,875,874 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5233:Cd22
|
UTSW |
7 |
30,877,534 (GRCm38) |
missense |
probably damaging |
1.00 |
R5456:Cd22
|
UTSW |
7 |
30,876,039 (GRCm38) |
missense |
probably benign |
0.02 |
R5511:Cd22
|
UTSW |
7 |
30,870,071 (GRCm38) |
missense |
probably damaging |
1.00 |
R5513:Cd22
|
UTSW |
7 |
30,867,025 (GRCm38) |
missense |
probably damaging |
0.99 |
R5611:Cd22
|
UTSW |
7 |
30,878,150 (GRCm38) |
unclassified |
probably benign |
|
R5966:Cd22
|
UTSW |
7 |
30,866,658 (GRCm38) |
missense |
probably damaging |
1.00 |
R6329:Cd22
|
UTSW |
7 |
30,877,768 (GRCm38) |
missense |
probably damaging |
0.99 |
R6356:Cd22
|
UTSW |
7 |
30,877,702 (GRCm38) |
missense |
probably damaging |
1.00 |
R6455:Cd22
|
UTSW |
7 |
30,876,153 (GRCm38) |
missense |
probably damaging |
1.00 |
R6550:Cd22
|
UTSW |
7 |
30,877,552 (GRCm38) |
missense |
probably benign |
0.00 |
R6656:Cd22
|
UTSW |
7 |
30,877,757 (GRCm38) |
missense |
probably benign |
0.11 |
R6688:Cd22
|
UTSW |
7 |
30,872,964 (GRCm38) |
missense |
possibly damaging |
0.91 |
R6844:Cd22
|
UTSW |
7 |
30,873,431 (GRCm38) |
splice site |
probably null |
|
R6957:Cd22
|
UTSW |
7 |
30,867,574 (GRCm38) |
missense |
possibly damaging |
0.88 |
R7068:Cd22
|
UTSW |
7 |
30,878,079 (GRCm38) |
missense |
probably benign |
0.03 |
R7083:Cd22
|
UTSW |
7 |
30,868,048 (GRCm38) |
missense |
probably damaging |
0.99 |
R7225:Cd22
|
UTSW |
7 |
30,877,634 (GRCm38) |
missense |
not run |
|
R7732:Cd22
|
UTSW |
7 |
30,870,057 (GRCm38) |
missense |
probably damaging |
1.00 |
R8686:Cd22
|
UTSW |
7 |
30,870,069 (GRCm38) |
missense |
probably benign |
0.03 |
R8851:Cd22
|
UTSW |
7 |
30,877,659 (GRCm38) |
missense |
probably benign |
0.01 |
R8987:Cd22
|
UTSW |
7 |
30,877,747 (GRCm38) |
missense |
probably damaging |
1.00 |
R9051:Cd22
|
UTSW |
7 |
30,876,024 (GRCm38) |
missense |
probably benign |
|
R9098:Cd22
|
UTSW |
7 |
30,867,966 (GRCm38) |
missense |
probably benign |
0.00 |
R9124:Cd22
|
UTSW |
7 |
30,873,237 (GRCm38) |
missense |
probably benign |
0.01 |
R9167:Cd22
|
UTSW |
7 |
30,876,005 (GRCm38) |
missense |
probably benign |
0.07 |
R9319:Cd22
|
UTSW |
7 |
30,869,904 (GRCm38) |
missense |
probably damaging |
1.00 |
R9369:Cd22
|
UTSW |
7 |
30,877,574 (GRCm38) |
missense |
probably benign |
0.09 |
X0025:Cd22
|
UTSW |
7 |
30,873,419 (GRCm38) |
splice site |
probably null |
|
Z1176:Cd22
|
UTSW |
7 |
30,869,530 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Cd22
|
UTSW |
7 |
30,867,963 (GRCm38) |
missense |
probably benign |
0.03 |
Z1186:Cd22
|
UTSW |
7 |
30,867,466 (GRCm38) |
missense |
probably benign |
|
Z1186:Cd22
|
UTSW |
7 |
30,867,053 (GRCm38) |
missense |
probably benign |
0.01 |
Z1186:Cd22
|
UTSW |
7 |
30,875,867 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCCAGTCTCAGTTTCTGGC -3'
(R):5'- TTCTGGAAGAAGAATGGGAGTCTC -3'
Sequencing Primer
(F):5'- CAGTTTCTGGCCTGAGGAG -3'
(R):5'- AGGGAGGTACCTGAGCTTC -3'
|
Posted On |
2017-12-01 |