Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02321:Cd22'

288236

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 #

IGL02321

Quality Score

Status

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30869883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 603 (S603P)

Ref Sequence

ENSEMBL: ENSMUSP00000139871 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019248
AA Change: S603P

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

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: S603P

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: S603P

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

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: S603P

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: S603P

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

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: S603P

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: ENSMUST00000187989

Predicted Effect

probably damaging
Transcript: ENSMUST00000189718
AA Change: S603P

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

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: S603P

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

probably benign
Transcript: ENSMUST00000190455

Predicted Effect

probably damaging
Transcript: ENSMUST00000190617
AA Change: S603P

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

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: S603P

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

possibly damaging
Transcript: ENSMUST00000214289
AA Change: S429P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.9391

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
2410089E03Rik	A	G	15: 8,216,572	E1476G	probably benign	Het
Acsf3	C	T	8: 122,780,114	R49C	possibly damaging	Het
Alg2	T	C	4: 47,474,249	Y13C	probably benign	Het
Apoa4	A	G	9: 46,242,920	D273G	probably damaging	Het
Axl	C	T	7: 25,758,769	V854I	probably damaging	Het
BC117090	A	G	16: 36,323,026		probably benign	Het
Bicral	A	G	17: 46,811,947	S673P	probably benign	Het
C87499	A	G	4: 88,630,103	S22P	probably benign	Het
Camkk2	A	G	5: 122,764,127	S40P	probably damaging	Het
Ccdc39	A	G	3: 33,816,958		probably benign	Het
Ccdc87	A	G	19: 4,841,031	E517G	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chml	G	A	1: 175,692,334	P68L	possibly damaging	Het
Ephb3	T	C	16: 21,214,389	V41A	probably damaging	Het
Gm4781	T	A	10: 100,396,890		noncoding transcript	Het
Hip1r	A	T	5: 123,999,890	I760F	probably damaging	Het
Hyal5	T	C	6: 24,891,615	L476P	probably benign	Het
Isyna1	A	G	8: 70,596,270	N333S	probably damaging	Het
Kcnmb1	A	T	11: 33,970,091		probably benign	Het
Mark4	T	C	7: 19,426,389	T649A	probably benign	Het
Mgat1	T	C	11: 49,261,709	F340L	probably benign	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Mmaa	T	G	8: 79,274,130	Y233S	probably damaging	Het
Ntsr1	G	T	2: 180,538,834		probably null	Het
Olfr1394	T	G	11: 49,160,775	Y254D	probably damaging	Het
Orm2	T	C	4: 63,362,992	Y56H	probably damaging	Het
Pex26	C	T	6: 121,193,509		probably benign	Het
Pik3r4	C	T	9: 105,644,478	A81V	probably benign	Het
Prr14l	G	T	5: 32,827,807	T1448K	probably benign	Het
Ralgapa2	A	T	2: 146,412,816	Y799*	probably null	Het
Ryr1	A	C	7: 29,078,696	L2132R	probably damaging	Het
Sec23b	T	C	2: 144,579,405		probably null	Het
Sirt5	C	T	13: 43,379,688	T164I	probably damaging	Het
Slc9c1	T	C	16: 45,556,614	V429A	probably benign	Het
Spen	T	C	4: 141,517,130	D198G	unknown	Het
Syne2	A	G	12: 75,918,999	N832D	possibly damaging	Het
Traf7	C	A	17: 24,513,046	C193F	possibly damaging	Het
Vmn1r191	T	A	13: 22,178,898	R229*	probably null	Het
Vps53	C	T	11: 76,048,538	D680N	possibly damaging	Het
Wbp1l	G	T	19: 46,654,310	G234V	probably benign	Het
Wdfy3	A	T	5: 101,922,609	S1098T	probably damaging	Het
Yod1	T	A	1: 130,718,951	D188E	probably damaging	Het
Zbtb25	T	C	12: 76,350,133	D105G	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
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
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