Incidental Mutation 'R6688:Cd22'
| ID |
527858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb-8, Lyb8 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30865402-30880342 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 30872964 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 362
(S362A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000188157]
[ENSMUST00000189718]
[ENSMUST00000190617]
[ENSMUST00000214289]
[ENSMUST00000190646]
[ENSMUST00000190753]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019248
AA Change: S362A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: S362A
| 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 |
possibly damaging
Transcript: ENSMUST00000108125
AA Change: S362A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: S362A
| 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 |
possibly damaging
Transcript: ENSMUST00000186154
AA Change: S362A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: S362A
| 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: ENSMUST00000187585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187989
|
| 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 |
possibly damaging
Transcript: ENSMUST00000189718
AA Change: S362A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: S362A
| 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: ENSMUST00000190455
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190617
AA Change: S362A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: S362A
| 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: ENSMUST00000214289
|
| 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 |
probably benign
Transcript: ENSMUST00000190753
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,567,671 |
H249Q |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,724,536 |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 93,306,972 |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,017,840 |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,293,904 |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 107,073,905 |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,765,161 |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,820,586 |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,514,210 |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,806,011 |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,688,737 |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,205,553 |
L1587P |
probably damaging |
Het |
| Nop53 |
A |
G |
7: 15,945,854 |
V67A |
possibly damaging |
Het |
| Olfr107 |
G |
A |
17: 37,405,905 |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,744,137 |
T1045A |
probably benign |
Het |
| Pdzd3 |
C |
T |
9: 44,248,230 |
|
probably null |
Het |
| Plg |
A |
T |
17: 12,391,845 |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,616,673 |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 79,069,128 |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,259,563 |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,807,896 |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,854,535 |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,674,099 |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,307,757 |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,678,330 |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,926,620 |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,396,130 |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,628,940 |
T322A |
possibly damaging |
Het |
|
| Other mutations in Cd22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Cd22
|
APN |
7 |
30876147 |
missense |
probably benign |
0.01 |
|
IGL02236:Cd22
|
APN |
7 |
30867468 |
missense |
possibly damaging |
0.54 |
|
IGL02321:Cd22
|
APN |
7 |
30869883 |
missense |
probably damaging |
1.00 |
|
IGL02335:Cd22
|
APN |
7 |
30876134 |
missense |
probably damaging |
1.00 |
|
IGL02397:Cd22
|
APN |
7 |
30877625 |
missense |
probably benign |
|
|
IGL02402:Cd22
|
APN |
7 |
30877530 |
missense |
possibly damaging |
0.86 |
|
IGL02538:Cd22
|
APN |
7 |
30877560 |
missense |
probably benign |
0.40 |
|
IGL02736:Cd22
|
APN |
7 |
30878045 |
splice site |
probably null |
|
|
blitz
|
UTSW |
7 |
30869904 |
missense |
probably damaging |
1.00 |
|
crullers
|
UTSW |
7 |
30869883 |
missense |
probably damaging |
1.00 |
|
gansu
|
UTSW |
7 |
30870105 |
missense |
probably damaging |
1.00 |
|
lacrima
|
UTSW |
7 |
30876153 |
missense |
probably damaging |
1.00 |
|
Lluvia
|
UTSW |
7 |
30870487 |
missense |
possibly damaging |
0.48 |
|
Mist
|
UTSW |
7 |
30866658 |
missense |
probably damaging |
1.00 |
|
rain
|
UTSW |
7 |
30877534 |
missense |
probably damaging |
1.00 |
|
well
|
UTSW |
7 |
30877787 |
nonsense |
probably null |
|
|
Yosemite
|
UTSW |
7 |
30869509 |
critical splice donor site |
probably null |
|
|
FR4304:Cd22
|
UTSW |
7 |
30878082 |
missense |
possibly damaging |
0.95 |
|
FR4340:Cd22
|
UTSW |
7 |
30878082 |
missense |
possibly damaging |
0.95 |
|
FR4342:Cd22
|
UTSW |
7 |
30878082 |
missense |
possibly damaging |
0.95 |
|
FR4589:Cd22
|
UTSW |
7 |
30878082 |
missense |
possibly damaging |
0.95 |
|
LCD18:Cd22
|
UTSW |
7 |
30878082 |
missense |
possibly damaging |
0.95 |
|
PIT4142001:Cd22
|
UTSW |
7 |
30877799 |
missense |
possibly damaging |
0.92 |
|
R0123:Cd22
|
UTSW |
7 |
30867108 |
splice site |
probably benign |
|
|
R0130:Cd22
|
UTSW |
7 |
30869964 |
missense |
possibly damaging |
0.92 |
|
R0926:Cd22
|
UTSW |
7 |
30869509 |
critical splice donor site |
probably null |
|
|
R1245:Cd22
|
UTSW |
7 |
30869883 |
missense |
probably damaging |
1.00 |
|
R1332:Cd22
|
UTSW |
7 |
30870487 |
missense |
possibly damaging |
0.48 |
|
R1457:Cd22
|
UTSW |
7 |
30873170 |
missense |
probably benign |
0.07 |
|
R1716:Cd22
|
UTSW |
7 |
30877678 |
missense |
probably damaging |
1.00 |
|
R1980:Cd22
|
UTSW |
7 |
30873233 |
missense |
probably damaging |
1.00 |
|
R2017:Cd22
|
UTSW |
7 |
30872780 |
missense |
probably damaging |
0.99 |
|
R2061:Cd22
|
UTSW |
7 |
30870105 |
missense |
probably damaging |
1.00 |
|
R2061:Cd22
|
UTSW |
7 |
30876156 |
missense |
probably benign |
0.03 |
|
R2075:Cd22
|
UTSW |
7 |
30869698 |
missense |
probably damaging |
1.00 |
|
R2216:Cd22
|
UTSW |
7 |
30867046 |
missense |
probably damaging |
1.00 |
|
R3886:Cd22
|
UTSW |
7 |
30870107 |
missense |
possibly damaging |
0.57 |
|
R4599:Cd22
|
UTSW |
7 |
30875900 |
missense |
probably damaging |
0.98 |
|
R4701:Cd22
|
UTSW |
7 |
30876153 |
missense |
probably damaging |
1.00 |
|
R4796:Cd22
|
UTSW |
7 |
30872956 |
splice site |
probably null |
|
|
R5179:Cd22
|
UTSW |
7 |
30875874 |
missense |
possibly damaging |
0.81 |
|
R5233:Cd22
|
UTSW |
7 |
30877534 |
missense |
probably damaging |
1.00 |
|
R5456:Cd22
|
UTSW |
7 |
30876039 |
missense |
probably benign |
0.02 |
|
R5511:Cd22
|
UTSW |
7 |
30870071 |
missense |
probably damaging |
1.00 |
|
R5513:Cd22
|
UTSW |
7 |
30867025 |
missense |
probably damaging |
0.99 |
|
R5611:Cd22
|
UTSW |
7 |
30878150 |
unclassified |
probably benign |
|
|
R5656:Cd22
|
UTSW |
7 |
30869773 |
missense |
probably damaging |
1.00 |
|
R5966:Cd22
|
UTSW |
7 |
30866658 |
missense |
probably damaging |
1.00 |
|
R6329:Cd22
|
UTSW |
7 |
30877768 |
missense |
probably damaging |
0.99 |
|
R6356:Cd22
|
UTSW |
7 |
30877702 |
missense |
probably damaging |
1.00 |
|
R6455:Cd22
|
UTSW |
7 |
30876153 |
missense |
probably damaging |
1.00 |
|
R6550:Cd22
|
UTSW |
7 |
30877552 |
missense |
probably benign |
0.00 |
|
R6656:Cd22
|
UTSW |
7 |
30877757 |
missense |
probably benign |
0.11 |
|
R6844:Cd22
|
UTSW |
7 |
30873431 |
splice site |
probably null |
|
|
R6957:Cd22
|
UTSW |
7 |
30867574 |
missense |
possibly damaging |
0.88 |
|
R7068:Cd22
|
UTSW |
7 |
30878079 |
missense |
probably benign |
0.03 |
|
R7083:Cd22
|
UTSW |
7 |
30868048 |
missense |
probably damaging |
0.99 |
|
R7225:Cd22
|
UTSW |
7 |
30877634 |
missense |
not run |
|
|
R7732:Cd22
|
UTSW |
7 |
30870057 |
missense |
probably damaging |
1.00 |
|
R8686:Cd22
|
UTSW |
7 |
30870069 |
missense |
probably benign |
0.03 |
|
R8851:Cd22
|
UTSW |
7 |
30877659 |
missense |
probably benign |
0.01 |
|
R8987:Cd22
|
UTSW |
7 |
30877747 |
missense |
probably damaging |
1.00 |
|
R9051:Cd22
|
UTSW |
7 |
30876024 |
missense |
probably benign |
|
|
R9098:Cd22
|
UTSW |
7 |
30867966 |
missense |
probably benign |
0.00 |
|
R9124:Cd22
|
UTSW |
7 |
30873237 |
missense |
probably benign |
0.01 |
|
R9167:Cd22
|
UTSW |
7 |
30876005 |
missense |
probably benign |
0.07 |
|
R9319:Cd22
|
UTSW |
7 |
30869904 |
missense |
probably damaging |
1.00 |
|
R9369:Cd22
|
UTSW |
7 |
30877574 |
missense |
probably benign |
0.09 |
|
X0025:Cd22
|
UTSW |
7 |
30873419 |
splice site |
probably null |
|
|
Z1176:Cd22
|
UTSW |
7 |
30867963 |
missense |
probably benign |
0.03 |
|
Z1176:Cd22
|
UTSW |
7 |
30869530 |
missense |
probably damaging |
1.00 |
|
Z1186:Cd22
|
UTSW |
7 |
30867053 |
missense |
probably benign |
0.01 |
|
Z1186:Cd22
|
UTSW |
7 |
30867466 |
missense |
probably benign |
|
|
Z1186:Cd22
|
UTSW |
7 |
30875867 |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATCCAGCTTAGCTTCCTG -3'
(R):5'- CACTGTGAGTTTCCTTGAAGCTG -3'
Sequencing Primer
(F):5'- ACGGTTCTCTGCCAAGCAAG -3'
(R):5'- CCTTGAAGCTGGTGAGGGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation