Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02538:Cd22'

297581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb-8, Lyb8

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30877560 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 107 (N107K)

Ref Sequence

ENSEMBL: ENSMUSP00000140450 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019248
AA Change: N107K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: N107K

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: N107K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: N107K

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: N107K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: N107K

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
AA Change: N107K

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
AA Change: N107K

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: N107K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: N107K

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 benign
Transcript: ENSMUST00000190617
AA Change: N107K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: N107K

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: N107K

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: N107K

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

Predicted Effect

unknown
Transcript: ENSMUST00000214289
AA Change: N107K

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,306,605	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,527,246	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,115,056	H257R	probably damaging	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Atg2a	A	G	19: 6,257,628	T1531A	probably benign	Het
Bsn	A	G	9: 108,105,236	S1001P	unknown	Het
Btn1a1	T	C	13: 23,459,215	T355A	possibly damaging	Het
Ceacam10	A	G	7: 24,778,483	H141R	probably damaging	Het
Chil3	T	C	3: 106,164,129	D73G	probably damaging	Het
Cit	C	T	5: 115,986,989	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,708,753	I418K	possibly damaging	Het
Efcab6	T	A	15: 84,054,521		probably benign	Het
Eif4g2	T	C	7: 111,079,316	I110V	probably benign	Het
Fam217a	T	C	13: 34,911,113	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,558	K342N	probably damaging	Het
Git2	A	T	5: 114,730,986		probably benign	Het
Gm4951	A	T	18: 60,245,872	K160*	probably null	Het
Gm8126	A	T	14: 43,259,590	R63W	probably benign	Het
Ica1l	T	C	1: 60,010,186	K203E	probably benign	Het
Inpp5d	A	G	1: 87,695,366	M393V	probably null	Het
Kbtbd11	A	G	8: 15,028,841	D480G	probably damaging	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Krt2	A	G	15: 101,811,154	S694P	unknown	Het
Lhfp	C	T	3: 53,043,311	A2V	probably benign	Het
Lipk	T	A	19: 34,046,879	L354Q	probably damaging	Het
Luzp2	T	A	7: 55,211,798	L225*	probably null	Het
Mknk1	C	T	4: 115,860,091	Q58*	probably null	Het
Mut	A	T	17: 40,938,619	I162F	probably damaging	Het
Nol11	T	A	11: 107,173,373	M518L	probably benign	Het
Nubpl	T	C	12: 52,310,694		probably benign	Het
Nup35	T	A	2: 80,644,219	S93R	possibly damaging	Het
Olfr330	T	C	11: 58,529,990		probably benign	Het
Olfr992	T	A	2: 85,400,303	I77F	probably damaging	Het
Pex3	T	C	10: 13,535,600	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 125,451,977	S1128P	probably damaging	Het
Terb2	T	C	2: 122,204,808		probably benign	Het
Trim72	A	G	7: 128,004,770	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,111,043	D830G	possibly damaging	Het
Uri1	A	G	7: 37,965,491	S259P	probably benign	Het
Usp38	A	T	8: 80,985,558	L616H	probably damaging	Het
Uspl1	T	A	5: 149,188,459	C73S	probably damaging	Het
Wdr7	C	A	18: 63,796,235	D1047E	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
IGL02736:Cd22	APN	7	30878045	splice site	probably null
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	synonymous	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
X0025:Cd22	UTSW	7	30873419	unclassified	probably null

Posted On

2015-04-16