Incidental Mutation 'IGL02736:Cd22'
| ID |
305683 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd22
|
| Ensembl Gene |
ENSMUSG00000030577 |
| Gene Name |
CD22 antigen |
| Synonyms |
Lyb-8, Lyb8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30865402-30880342 bp(-) (GRCm38) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 30878045 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019248]
[ENSMUST00000108125]
[ENSMUST00000186154]
[ENSMUST00000187989]
[ENSMUST00000188157]
[ENSMUST00000189718]
[ENSMUST00000190617]
[ENSMUST00000190646]
[ENSMUST00000190753]
[ENSMUST00000214289]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019248
|
| SMART Domains |
Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
| 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 null
Transcript: ENSMUST00000108125
|
| SMART Domains |
Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
| 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 null
Transcript: ENSMUST00000186154
|
| SMART Domains |
Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
| 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 null
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 null
Transcript: ENSMUST00000189718
|
| SMART Domains |
Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
| 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 |
probably null
Transcript: ENSMUST00000190617
|
| SMART Domains |
Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
| 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 |
probably null
Transcript: ENSMUST00000190753
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214289
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010300C02Rik |
T |
C |
1: 37,637,873 |
E76G |
probably damaging |
Het |
| 9430007A20Rik |
G |
A |
4: 144,528,637 |
R209K |
probably benign |
Het |
| A830018L16Rik |
G |
A |
1: 11,972,051 |
A416T |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,355,637 |
I816V |
probably benign |
Het |
| Antxrl |
A |
G |
14: 34,056,618 |
|
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,980,109 |
T920I |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,203,939 |
N765I |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,154,910 |
P307S |
probably benign |
Het |
| Dapk2 |
T |
A |
9: 66,268,916 |
M333K |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,930,952 |
T127S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,849,770 |
|
probably benign |
Het |
| Erbin |
A |
G |
13: 103,839,395 |
S664P |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,342,719 |
C2941F |
possibly damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,487,252 |
Y79H |
probably benign |
Het |
| Matn3 |
T |
A |
12: 8,955,422 |
D277E |
possibly damaging |
Het |
| Mgarp |
C |
A |
3: 51,396,445 |
A36S |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,114,242 |
|
probably benign |
Het |
| Nynrin |
G |
A |
14: 55,870,909 |
A1158T |
probably damaging |
Het |
| Olfr427 |
T |
G |
1: 174,099,647 |
I63S |
probably damaging |
Het |
| Olfr729 |
G |
A |
14: 50,148,424 |
A150V |
probably benign |
Het |
| Palm2 |
C |
A |
4: 57,709,721 |
A222E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,040,666 |
D1295G |
probably benign |
Het |
| Ppig |
A |
G |
2: 69,736,094 |
I171M |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,458,248 |
V12E |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 108,068,302 |
R390* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,263,591 |
Q741L |
possibly damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,428,311 |
V157A |
possibly damaging |
Het |
| Sox6 |
A |
C |
7: 115,580,640 |
D302E |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 86,024,435 |
V136A |
probably damaging |
Het |
| St6galnac6 |
G |
A |
2: 32,614,971 |
R129H |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 77,597,846 |
D338E |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,878,270 |
|
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,464,835 |
V113A |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,421,640 |
Y675H |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,417,383 |
Y117* |
probably null |
Het |
| Zc3h7b |
A |
T |
15: 81,791,974 |
M694L |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,474,554 |
Y45N |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation