Incidental Mutation 'R5456:Cd22'
| ID |
432753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb-8, Lyb8 |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5456 (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 C
at 30876039 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 193
(I193V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000188157]
[ENSMUST00000189718]
[ENSMUST00000190617]
[ENSMUST00000190646]
[ENSMUST00000214289]
[ENSMUST00000190753]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019248
AA Change: I193V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: I193V
| 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: I193V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: I193V
| 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: I193V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: I193V
| 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 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 |
probably benign
Transcript: ENSMUST00000189718
AA Change: I193V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: I193V
| 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: ENSMUST00000190617
AA Change: I193V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: I193V
| 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: I193V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: I193V
| 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 |
unknown
Transcript: ENSMUST00000214289
AA Change: I193V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190455
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,741,640 |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,298,522 |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,590,069 |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,545,344 |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,510,546 |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,363,321 |
Y287F |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,674,157 |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,314,390 |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,972,816 |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,492,595 |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 88,986,348 |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,427,221 |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,589,833 |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,743,159 |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,501,573 |
V112I |
probably damaging |
Het |
| Olfr1257 |
G |
A |
2: 89,881,258 |
G144E |
probably damaging |
Het |
| Olfr284 |
G |
A |
15: 98,340,365 |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 164,027,660 |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,007,442 |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,923,746 |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,728,646 |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,200,036 |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,709,353 |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,869,811 |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,319,815 |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,486,760 |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,605,074 |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,399,958 |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 30,982,289 |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,670,277 |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,927,447 |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,080,208 |
H81R |
probably benign |
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 |
|
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 |
|
R6688:Cd22
|
UTSW |
7 |
30872964 |
missense |
possibly damaging |
0.91 |
|
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'- AAGGTGACAGGTAGCATCCTTC -3'
(R):5'- TGTGTCCCATCTCCAGCAAG -3'
Sequencing Primer
(F):5'- TTAACATCCAGACGCACAGTG -3'
(R):5'- AGCAAGCAGGCCTCTCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation