Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Cd22'

289706

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) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30876134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 161 (I161T)

Ref Sequence

ENSEMBL: ENSMUSP00000140528 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019248
AA Change: I161T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: I161T

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 damaging
Transcript: ENSMUST00000108125
AA Change: I161T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: I161T

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 damaging
Transcript: ENSMUST00000186154
AA Change: I161T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: I161T

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 damaging
Transcript: ENSMUST00000189718
AA Change: I161T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: I161T

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 damaging
Transcript: ENSMUST00000190646
AA Change: I161T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: I161T

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 damaging
Transcript: ENSMUST00000190617
AA Change: I161T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: I161T

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

unknown
Transcript: ENSMUST00000214289
AA Change: I161T

Predicted Effect

probably benign
Transcript: ENSMUST00000190455

Predicted Effect

probably benign
Transcript: ENSMUST00000190753

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540	N526Y	probably damaging	Het
A4gnt	C	T	9: 99,620,213	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929	T94A	possibly damaging	Het
Clcn7	C	T	17: 25,146,847	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769		probably benign	Het
Col6a6	C	T	9: 105,784,101	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834		probably null	Het
Dctn2	T	C	10: 127,275,821		probably benign	Het
Dnm1l	A	G	16: 16,342,740		probably benign	Het
Dpp4	T	C	2: 62,334,644	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390	W181*	probably null	Het
G2e3	T	A	12: 51,369,158	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937		probably benign	Het
Kcnq4	A	G	4: 120,715,854	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636		probably null	Het
Olfr1442	T	C	19: 12,674,238	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117		probably null	Het
Rrp7a	T	C	15: 83,122,691	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093		probably null	Het
Tbxas1	A	G	6: 39,023,080	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267	L34Q	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
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
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