Mutagenetix > Incidental Mutation

Incidental Mutation 'R1332:Cd22'

156739

Institutional Source

Beutler Lab

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb8, Lyb-8

MMRRC Submission

039397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30564829-30579767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30569912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 477 (W477G)

Ref Sequence

ENSEMBL: ENSMUSP00000139871 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019248
AA Change: W477G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: W477G

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

possibly damaging
Transcript: ENSMUST00000108125
AA Change: W477G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: W477G

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

possibly damaging
Transcript: ENSMUST00000186154
AA Change: W477G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: W477G

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

possibly damaging
Transcript: ENSMUST00000189718
AA Change: W477G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: W477G

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

possibly damaging
Transcript: ENSMUST00000190617
AA Change: W477G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: W477G

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: ENSMUST00000214289

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

Meta Mutation Damage Score

0.8920

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 93.0%

Validation Efficiency

100% (35/35)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	T	TNNNNNNNNNNNNNNNNNN	11: 43,478,256 (GRCm39)		probably benign	Het
Abhd14b	A	T	9: 106,329,195 (GRCm39)	I42F	probably damaging	Het
Apbb1	A	T	7: 105,214,750 (GRCm39)	I498N	possibly damaging	Het
Asah2	A	G	19: 32,022,341 (GRCm39)	I231T	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Caskin2	C	T	11: 115,694,171 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,844,784 (GRCm39)	T1428A	probably damaging	Het
Cox16	T	C	12: 81,519,064 (GRCm39)	D89G	probably damaging	Het
Dnah17	A	G	11: 117,934,041 (GRCm39)	I3511T	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,901 (GRCm39)	Y333N	probably damaging	Het
Eya2	T	C	2: 165,529,528 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,855,167 (GRCm39)	D1892G	probably benign	Het
Hlf	G	T	11: 90,231,679 (GRCm39)	S265*	probably null	Het
Immt	T	C	6: 71,823,256 (GRCm39)		probably benign	Het
Lair1	T	C	7: 4,013,595 (GRCm39)	E36G	possibly damaging	Het
Lrfn5	T	C	12: 61,904,314 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,177,001 (GRCm39)	N134S	probably damaging	Het
Ogfod1	T	C	8: 94,784,727 (GRCm39)	C344R	probably damaging	Het
Or6c212	A	G	10: 129,559,116 (GRCm39)	L99S	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pmfbp1	T	G	8: 110,256,898 (GRCm39)	I534S	probably damaging	Het
Prex2	A	G	1: 11,274,315 (GRCm39)	D1329G	probably damaging	Het
Rasal2	T	C	1: 157,003,391 (GRCm39)	T423A	probably benign	Het
Rif1	T	A	2: 51,968,326 (GRCm39)	W170R	probably benign	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tlr3	A	C	8: 45,851,774 (GRCm39)	N374K	probably damaging	Het
Uck1	T	C	2: 32,149,666 (GRCm39)	D71G	probably damaging	Het
Vcan	C	T	13: 89,841,174 (GRCm39)	E497K	probably damaging	Het
Vmn2r86	G	A	10: 130,282,739 (GRCm39)	L626F	probably damaging	Het
Vmn2r89	A	G	14: 51,692,559 (GRCm39)	T121A	probably benign	Het
Wdr64	T	C	1: 175,622,706 (GRCm39)	S828P	possibly damaging	Het
Zfp334	A	T	2: 165,222,776 (GRCm39)	H422Q	probably damaging	Het

Other mutations in Cd22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Cd22	APN	7	30,575,572 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTCCTGTCCCCTTGATTAGGA -3'
(R):5'- TCTTTGCTTGCCTCTCCATTCTA -3'

Sequencing Primer
(F):5'- TCCCTCAACCCTCTCTTTTG -3'
(R):5'- TACCCTAAGATGCTCCCAAG -3'

Posted On

2014-02-11