Incidental Mutation 'R2216:Cd22'
| ID |
241153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb-8, Lyb8 |
| MMRRC Submission |
040218-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30865402-30880342 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30867046 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 816
(T816N)
|
| 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: T816N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: T816N
| 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: T816N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: T816N
| 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: T816N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: T816N
| 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: T816N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: T816N
| 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: ENSMUST00000190455
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190617
AA Change: T816N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: T816N
| 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: T628N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
G |
T |
11: 72,031,446 (GRCm38) |
P146T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 84,275,351 (GRCm38) |
T423S |
probably damaging |
Het |
| Bend5 |
A |
G |
4: 111,448,590 (GRCm38) |
N277S |
probably null |
Het |
| Cep126 |
G |
A |
9: 8,120,678 (GRCm38) |
R115C |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,131,430 (GRCm38) |
H710R |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,093,495 (GRCm38) |
L1695H |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,314,981 (GRCm38) |
V371A |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,027,339 (GRCm38) |
|
probably null |
Het |
| Cyp1a1 |
T |
A |
9: 57,702,069 (GRCm38) |
|
probably null |
Het |
| Dennd1c |
C |
T |
17: 57,074,492 (GRCm38) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,893,923 (GRCm38) |
V2033I |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,569,565 (GRCm38) |
H51R |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,207,245 (GRCm38) |
|
probably null |
Het |
| Gcn1l1 |
T |
A |
5: 115,593,661 (GRCm38) |
V945E |
probably benign |
Het |
| Gm12800 |
T |
A |
4: 101,910,060 (GRCm38) |
W169R |
probably damaging |
Het |
| Gpbar1 |
C |
G |
1: 74,278,894 (GRCm38) |
L99V |
probably damaging |
Het |
| Hdac9 |
A |
T |
12: 34,429,517 (GRCm38) |
D212E |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,997,029 (GRCm38) |
D448E |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,467,866 (GRCm38) |
N75I |
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,228,586 (GRCm38) |
E117G |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,574,065 (GRCm38) |
R2349C |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,492,055 (GRCm38) |
N209S |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,512,500 (GRCm38) |
|
probably null |
Het |
| Myh15 |
C |
G |
16: 49,165,838 (GRCm38) |
S1557* |
probably null |
Het |
| Myo3a |
A |
C |
2: 22,577,771 (GRCm38) |
T346P |
probably benign |
Het |
| Nim1k |
A |
G |
13: 119,714,215 (GRCm38) |
Y152H |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,762,918 (GRCm38) |
R507* |
probably null |
Het |
| Olfr513 |
C |
T |
7: 108,755,612 (GRCm38) |
T252M |
probably damaging |
Het |
| Olfr702 |
T |
A |
7: 106,823,998 (GRCm38) |
H176L |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,857,205 (GRCm38) |
I798V |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 125,888,077 (GRCm38) |
A212T |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,573,895 (GRCm38) |
H3522L |
probably damaging |
Het |
| Pram1 |
C |
T |
17: 33,641,284 (GRCm38) |
A275V |
probably benign |
Het |
| Prkag1 |
A |
T |
15: 98,815,946 (GRCm38) |
M1K |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,113,593 (GRCm38) |
S276P |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,481,125 (GRCm38) |
V284D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,048,005 (GRCm38) |
D648G |
probably benign |
Het |
| Rnf112 |
A |
G |
11: 61,452,279 (GRCm38) |
L190P |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,513,085 (GRCm38) |
Y1138C |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,485,612 (GRCm38) |
P2010Q |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,530,745 (GRCm38) |
H274R |
probably benign |
Het |
| Slc5a6 |
T |
G |
5: 31,039,335 (GRCm38) |
E391D |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,858,842 (GRCm38) |
Q32R |
possibly damaging |
Het |
| Tars |
A |
G |
15: 11,389,708 (GRCm38) |
V372A |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,337,268 (GRCm38) |
L1250Q |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,512,564 (GRCm38) |
Y222C |
probably benign |
Het |
| Trim40 |
T |
C |
17: 36,888,983 (GRCm38) |
I68V |
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,471,306 (GRCm38) |
I150V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,532,168 (GRCm38) |
V109A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,561,840 (GRCm38) |
D969E |
probably benign |
Het |
| Vil1 |
G |
T |
1: 74,425,679 (GRCm38) |
R495L |
probably benign |
Het |
| Wfs1 |
T |
A |
5: 36,967,220 (GRCm38) |
K700* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,707,403 (GRCm38) |
L298P |
probably damaging |
Het |
| Zfp946 |
A |
T |
17: 22,454,716 (GRCm38) |
Q150H |
possibly damaging |
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 |
|
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 |
|
|
R5656:Cd22
|
UTSW |
7 |
30,869,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- CAAGGCAGAGACTGTTTTAGGG -3'
(R):5'- CAGCCATTTTCATTAGCTGCTG -3'
Sequencing Primer
(F):5'- TATGCCCCAGCTGTGAAATAAG -3'
(R):5'- CTGCTCTGGTGCTGTGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation