Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Cd33'

617363

Institutional Source

Beutler Lab

Gene Symbol

Cd33

Ensembl Gene

ENSMUSG00000004609

Gene Name

CD33 antigen

Synonyms

Siglec-3, gp67

MMRRC Submission

Accession Numbers

Genbank: NM_001111058.1, NM_021293.3; Ensembl: ENSMUST00000004728, ENSMUST00000039861

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43524216-43544428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43528838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 371 (V371A)

Ref Sequence

ENSEMBL: ENSMUSP00000004728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]

AlphaFold

Q63994

Predicted Effect

unknown
Transcript: ENSMUST00000004728
AA Change: V371A

SMART Domains

Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: V371A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	26	139	2.58e-6	SMART
IG_like	148	232	2.66e1	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039861

SMART Domains

Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	26	139	2.58e-6	SMART
IG_like	148	232	2.66e1	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205503

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably damaging	Het

Other mutations in Cd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Cd33	APN	7	43529558	intron	probably benign
IGL01025:Cd33	APN	7	43532905	missense	probably damaging	1.00
IGL01593:Cd33	APN	7	43530281	missense	possibly damaging	0.91
IGL02080:Cd33	APN	7	43528850	utr 3 prime	probably benign
IGL02519:Cd33	APN	7	43528729	utr 3 prime	probably benign
IGL02626:Cd33	APN	7	43530312	splice site	probably benign
1mM(1):Cd33	UTSW	7	43528793	utr 3 prime	probably benign
R0751:Cd33	UTSW	7	43532121	missense	probably damaging	1.00
R1513:Cd33	UTSW	7	43532194	missense	probably damaging	1.00
R1542:Cd33	UTSW	7	43532106	missense	probably damaging	1.00
R1752:Cd33	UTSW	7	43532298	missense	probably benign	0.24
R1928:Cd33	UTSW	7	43529879	missense	probably benign	0.41
R2045:Cd33	UTSW	7	43529892	missense	probably benign	0.00
R2127:Cd33	UTSW	7	43530275	missense	possibly damaging	0.72
R3433:Cd33	UTSW	7	43529907	missense	probably benign	0.00
R4760:Cd33	UTSW	7	43529495	missense	probably benign
R4810:Cd33	UTSW	7	43532710	missense	probably damaging	0.99
R5387:Cd33	UTSW	7	43532053	nonsense	probably null
R5611:Cd33	UTSW	7	43532118	missense	probably damaging	0.97
R5796:Cd33	UTSW	7	43533056	critical splice donor site	probably null
R8193:Cd33	UTSW	7	43532272	missense	possibly damaging	0.96
R8993:Cd33	UTSW	7	43533447	unclassified	probably benign
R9495:Cd33	UTSW	7	43532726	missense	probably benign	0.09
R9514:Cd33	UTSW	7	43532726	missense	probably benign	0.09
R9590:Cd33	UTSW	7	43530213	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTACTTACTCATGGGCAAGGGC -3'
(R):5'- ATCAGCAGGACTCCAAGGTG -3'

Sequencing Primer
(F):5'- GGTAGGGGATCATTATACTGAGTAC -3'
(R):5'- GGTGCACAGCAATCCTGAGAATC -3'

Posted On

2020-01-23