Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00714:Cd22'

9492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb8, Lyb-8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00714

Quality Score

Status

Chromosome

Chromosomal Location

30564829-30579767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30575572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 157 (M157V)

Ref Sequence

ENSEMBL: ENSMUSP00000140528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000108125] [ENSMUST00000186154] [ENSMUST00000190617] [ENSMUST00000190646] [ENSMUST00000189718] [ENSMUST00000187989] [ENSMUST00000214289] [ENSMUST00000190753] [ENSMUST00000188157]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019248
AA Change: M157V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: M157V

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: M157V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: M157V

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: M157V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: M157V

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: ENSMUST00000190617
AA Change: M157V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: M157V

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: M157V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: M157V

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: ENSMUST00000189718
AA Change: M157V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: M157V

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: ENSMUST00000190170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189996

Predicted Effect

probably benign
Transcript: ENSMUST00000187989

Predicted Effect

unknown
Transcript: ENSMUST00000214289
AA Change: M157V

Predicted Effect

probably benign
Transcript: ENSMUST00000190753

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: ENSMUST00000190455

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	C	7: 12,289,931 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,649,192 (GRCm39)	Q1951R	probably damaging	Het
Csta1	A	G	16: 35,945,369 (GRCm39)	V48A	probably damaging	Het
Fxr1	T	C	3: 34,101,776 (GRCm39)		probably benign	Het
Pcdh1	G	A	18: 38,331,782 (GRCm39)	T407I	possibly damaging	Het
Pcdha1	A	T	18: 37,065,228 (GRCm39)	T631S	probably damaging	Het
Sec23b	C	T	2: 144,401,145 (GRCm39)	A2V	probably benign	Het
Tbc1d2	A	G	4: 46,649,745 (GRCm39)	V97A	probably benign	Het
Ttll9	A	C	2: 152,826,180 (GRCm39)	E130A	probably damaging	Het
Zfp160	A	T	17: 21,246,964 (GRCm39)	T505S	probably benign	Het

Other mutations in Cd22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Cd22	APN	7	30,566,893 (GRCm39)	missense	possibly damaging	0.54
IGL02321:Cd22	APN	7	30,569,308 (GRCm39)	missense	probably damaging	1.00
IGL02335:Cd22	APN	7	30,575,559 (GRCm39)	missense	probably damaging	1.00
IGL02397:Cd22	APN	7	30,577,050 (GRCm39)	missense	probably benign
IGL02402:Cd22	APN	7	30,576,955 (GRCm39)	missense	possibly damaging	0.86
IGL02538:Cd22	APN	7	30,576,985 (GRCm39)	missense	probably benign	0.40
IGL02736:Cd22	APN	7	30,577,470 (GRCm39)	splice site	probably null
blitz	UTSW	7	30,569,329 (GRCm39)	missense	probably damaging	1.00
crullers	UTSW	7	30,569,308 (GRCm39)	missense	probably damaging	1.00
gansu	UTSW	7	30,569,530 (GRCm39)	missense	probably damaging	1.00
lacrima	UTSW	7	30,575,578 (GRCm39)	missense	probably damaging	1.00
Lluvia	UTSW	7	30,569,912 (GRCm39)	missense	possibly damaging	0.48
Mist	UTSW	7	30,566,083 (GRCm39)	missense	probably damaging	1.00
rain	UTSW	7	30,576,959 (GRCm39)	missense	probably damaging	1.00
well	UTSW	7	30,577,212 (GRCm39)	nonsense	probably null
Yosemite	UTSW	7	30,568,934 (GRCm39)	critical splice donor site	probably null
FR4304:Cd22	UTSW	7	30,577,507 (GRCm39)	missense	possibly damaging	0.95
FR4340:Cd22	UTSW	7	30,577,507 (GRCm39)	missense	possibly damaging	0.95
FR4342:Cd22	UTSW	7	30,577,507 (GRCm39)	missense	possibly damaging	0.95
FR4589:Cd22	UTSW	7	30,577,507 (GRCm39)	missense	possibly damaging	0.95
LCD18:Cd22	UTSW	7	30,577,507 (GRCm39)	missense	possibly damaging	0.95
PIT4142001:Cd22	UTSW	7	30,577,224 (GRCm39)	missense	possibly damaging	0.92
R0123:Cd22	UTSW	7	30,566,533 (GRCm39)	splice site	probably benign
R0130:Cd22	UTSW	7	30,569,389 (GRCm39)	missense	possibly damaging	0.92
R0926:Cd22	UTSW	7	30,568,934 (GRCm39)	critical splice donor site	probably null
R1245:Cd22	UTSW	7	30,569,308 (GRCm39)	missense	probably damaging	1.00
R1332:Cd22	UTSW	7	30,569,912 (GRCm39)	missense	possibly damaging	0.48
R1457:Cd22	UTSW	7	30,572,595 (GRCm39)	missense	probably benign	0.07
R1716:Cd22	UTSW	7	30,577,103 (GRCm39)	missense	probably damaging	1.00
R1980:Cd22	UTSW	7	30,572,658 (GRCm39)	missense	probably damaging	1.00
R2017:Cd22	UTSW	7	30,572,205 (GRCm39)	missense	probably damaging	0.99
R2061:Cd22	UTSW	7	30,575,581 (GRCm39)	missense	probably benign	0.03
R2061:Cd22	UTSW	7	30,569,530 (GRCm39)	missense	probably damaging	1.00
R2075:Cd22	UTSW	7	30,569,123 (GRCm39)	missense	probably damaging	1.00
R2216:Cd22	UTSW	7	30,566,471 (GRCm39)	missense	probably damaging	1.00
R3886:Cd22	UTSW	7	30,569,532 (GRCm39)	missense	possibly damaging	0.57
R4599:Cd22	UTSW	7	30,575,325 (GRCm39)	missense	probably damaging	0.98
R4701:Cd22	UTSW	7	30,575,578 (GRCm39)	missense	probably damaging	1.00
R4796:Cd22	UTSW	7	30,572,381 (GRCm39)	splice site	probably null
R5179:Cd22	UTSW	7	30,575,299 (GRCm39)	missense	possibly damaging	0.81
R5233:Cd22	UTSW	7	30,576,959 (GRCm39)	missense	probably damaging	1.00
R5456:Cd22	UTSW	7	30,575,464 (GRCm39)	missense	probably benign	0.02
R5511:Cd22	UTSW	7	30,569,496 (GRCm39)	missense	probably damaging	1.00
R5513:Cd22	UTSW	7	30,566,450 (GRCm39)	missense	probably damaging	0.99
R5611:Cd22	UTSW	7	30,577,575 (GRCm39)	unclassified	probably benign
R5656:Cd22	UTSW	7	30,569,198 (GRCm39)	missense	probably damaging	1.00
R5966:Cd22	UTSW	7	30,566,083 (GRCm39)	missense	probably damaging	1.00
R6329:Cd22	UTSW	7	30,577,193 (GRCm39)	missense	probably damaging	0.99
R6356:Cd22	UTSW	7	30,577,127 (GRCm39)	missense	probably damaging	1.00
R6455:Cd22	UTSW	7	30,575,578 (GRCm39)	missense	probably damaging	1.00
R6550:Cd22	UTSW	7	30,576,977 (GRCm39)	missense	probably benign	0.00
R6656:Cd22	UTSW	7	30,577,182 (GRCm39)	missense	probably benign	0.11
R6688:Cd22	UTSW	7	30,572,389 (GRCm39)	missense	possibly damaging	0.91
R6844:Cd22	UTSW	7	30,572,856 (GRCm39)	splice site	probably null
R6957:Cd22	UTSW	7	30,566,999 (GRCm39)	missense	possibly damaging	0.88
R7068:Cd22	UTSW	7	30,577,504 (GRCm39)	missense	probably benign	0.03
R7083:Cd22	UTSW	7	30,567,473 (GRCm39)	missense	probably damaging	0.99
R7225:Cd22	UTSW	7	30,577,059 (GRCm39)	missense	not run
R7732:Cd22	UTSW	7	30,569,482 (GRCm39)	missense	probably damaging	1.00
R8686:Cd22	UTSW	7	30,569,494 (GRCm39)	missense	probably benign	0.03
R8851:Cd22	UTSW	7	30,577,084 (GRCm39)	missense	probably benign	0.01
R8987:Cd22	UTSW	7	30,577,172 (GRCm39)	missense	probably damaging	1.00
R9051:Cd22	UTSW	7	30,575,449 (GRCm39)	missense	probably benign
R9098:Cd22	UTSW	7	30,567,391 (GRCm39)	missense	probably benign	0.00
R9124:Cd22	UTSW	7	30,572,662 (GRCm39)	missense	probably benign	0.01
R9167:Cd22	UTSW	7	30,575,430 (GRCm39)	missense	probably benign	0.07
R9319:Cd22	UTSW	7	30,569,329 (GRCm39)	missense	probably damaging	1.00
R9369:Cd22	UTSW	7	30,576,999 (GRCm39)	missense	probably benign	0.09
X0025:Cd22	UTSW	7	30,572,844 (GRCm39)	splice site	probably null
Z1176:Cd22	UTSW	7	30,568,955 (GRCm39)	missense	probably damaging	1.00
Z1176:Cd22	UTSW	7	30,567,388 (GRCm39)	missense	probably benign	0.03
Z1186:Cd22	UTSW	7	30,566,891 (GRCm39)	missense	probably benign
Z1186:Cd22	UTSW	7	30,566,478 (GRCm39)	missense	probably benign	0.01
Z1186:Cd22	UTSW	7	30,575,292 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-12-06