Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Cd22'

562093

Institutional Source

Beutler Lab

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb-8, Lyb8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30877634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 83 (A83T)

Ref Sequence

ENSEMBL: ENSMUSP00000019248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019248]

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000019248
AA Change: A83T

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: A83T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	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
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
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

Predicted Primers

Posted On

2019-06-26