Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Cd33'

717158

Institutional Source

Beutler Lab

Gene Symbol

Cd33

Ensembl Gene

ENSMUSG00000004609

Gene Name

CD33 antigen

Synonyms

Siglec-3, gp67

Accession Numbers

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43524216-43544428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43532726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 98 (H98Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004728 (fasta)

Gene Model

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

AlphaFold

Q63994

Predicted Effect

probably benign
Transcript: ENSMUST00000004728
AA Change: H98Q

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: H98Q

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
AA Change: H98Q

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: H98Q

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
AA Change: H98Q

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206371

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	C	T	8: 45,956,421	S287N	probably damaging	Het
1700088E04Rik	T	A	15: 79,135,642	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acp5	G	A	9: 22,127,187	Q273*	probably null	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,999,798	N468K	probably damaging	Het
Bphl	A	T	13: 34,050,329	I143L	probably benign	Het
C130079G13Rik	T	C	3: 59,932,693	I62T	possibly damaging	Het
Ccdc58	A	G	16: 36,072,121	E12G	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Colec10	A	G	15: 54,462,365	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,383,795	M759T	probably benign	Het
Ctc1	A	G	11: 69,022,767	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,454,382	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Erv3	C	A	2: 131,856,055	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fbn1	A	T	2: 125,319,064	N2185K	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Gemin4	A	G	11: 76,210,923	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,609,820	T124A	unknown	Het
Gm17669	G	T	18: 67,562,612	V76L	probably benign	Het
Gm8765	T	A	13: 50,701,429	S368T	possibly damaging	Het
Hcls1	A	T	16: 36,957,340	M274L	probably benign	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Lrrc41	T	A	4: 116,075,609		probably null	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Muc6	T	A	7: 141,651,133	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 20,026,537	K624N	possibly damaging	Het
Olfr463	C	T	11: 87,893,256	V223M	probably benign	Het
Olfr49	T	C	14: 54,282,680	T72A	probably damaging	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Otud4	T	C	8: 79,673,458	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pdc	T	C	1: 150,333,168	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pkn1	C	T	8: 83,684,170	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Podn	C	T	4: 108,018,909	V517I	probably benign	Het
Pomk	T	C	8: 25,983,316	D203G	probably damaging	Het
Ppil4	A	G	10: 7,799,591	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,307,873	I276T	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Rbm12	G	T	2: 156,097,818	T178K	unknown	Het
Sctr	T	C	1: 120,031,673		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,467,572		probably benign	Het
Steap1	A	T	5: 5,736,458	D326E	probably damaging	Het
Stra6	G	A	9: 58,151,892	V513I	probably benign	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tcea3	T	A	4: 136,264,574	C190S	probably damaging	Het
Tfr2	G	A	5: 137,574,439	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tmem2	T	A	19: 21,801,885	V353D	probably damaging	Het
Tmem87b	T	C	2: 128,818,433	L32P	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Ulbp1	C	A	10: 7,456,371	M196I	probably benign	Het
Vash1	G	A	12: 86,691,889	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Vta1	A	G	10: 14,655,839	I264T	probably benign	Het
Zcchc8	A	T	5: 123,700,570	M635K	probably benign	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
R8021:Cd33	UTSW	7	43528838	missense	unknown
R8193:Cd33	UTSW	7	43532272	missense	possibly damaging	0.96
R8993:Cd33	UTSW	7	43533447	unclassified	probably benign
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'- CAAGGATGAGGTACAAGTCTTCC -3'
(R):5'- ATGTGCCCTGCAGTGTTTTC -3'

Sequencing Primer
(F):5'- GGATGAGGTACAAGTCTTCCAACAC -3'
(R):5'- GCAGTGTTTTCTACCCCTCCATTAAG -3'

Posted On

2022-07-18