Mutagenetix > Incidental Mutation

Incidental Mutation 'R1554:Tspan33'

170149

Institutional Source

Beutler Lab

Gene Symbol

Tspan33

Ensembl Gene

ENSMUSG00000001763

Gene Name

tetraspanin 33

Synonyms

Penumbra, Pen, 1300010A20Rik

MMRRC Submission

039593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1554 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

29694221-29718558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29711081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 118 (S118P)

Ref Sequence

ENSEMBL: ENSMUSP00000110905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046750] [ENSMUST00000115250]

AlphaFold

Q8R3S2

Predicted Effect

probably benign
Transcript: ENSMUST00000046750
AA Change: S119P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
AA Change: S119P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	21	264	3.8e-86	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115250
AA Change: S118P

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
AA Change: S118P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	21	263	1.3e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137925

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the tetraspanin family which typically have four transmembrane domains. The encoded protein may be involved in the regulation of erythropoiesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null mutation display anemia and partial penetrance of red blood cell abnormalities, splenomegaly, monocytosis, thrombocytopenia, reticulocytosis, and extramedullary hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,886,302 (GRCm39)	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,055,703 (GRCm39)	D152V	probably damaging	Het
Api5	T	C	2: 94,255,988 (GRCm39)	D233G	probably benign	Het
Btaf1	A	G	19: 36,973,998 (GRCm39)	D1390G	probably benign	Het
Cep135	G	A	5: 76,782,060 (GRCm39)	W893*	probably null	Het
Cgas	A	T	9: 78,342,838 (GRCm39)	S321R	probably damaging	Het
Cmtm6	T	A	9: 114,575,550 (GRCm39)	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,046,234 (GRCm39)	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,159,290 (GRCm39)	N104S	probably benign	Het
Dpyd	A	T	3: 118,858,695 (GRCm39)		probably null	Het
Dtx1	T	C	5: 120,821,386 (GRCm39)	K387R	probably damaging	Het
Ercc4	A	G	16: 12,965,486 (GRCm39)	D706G	probably damaging	Het
Fat2	T	C	11: 55,144,490 (GRCm39)	N4128S	probably benign	Het
Gm42669	T	A	5: 107,655,653 (GRCm39)	C639S	possibly damaging	Het
Grk3	T	A	5: 113,117,135 (GRCm39)	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,852 (GRCm39)	D91E	probably benign	Het
Havcr1	C	A	11: 46,643,334 (GRCm39)	H85N	probably benign	Het
Il12rb1	G	A	8: 71,266,016 (GRCm39)		probably null	Het
Kif3a	A	G	11: 53,489,154 (GRCm39)	K117E	probably damaging	Het
Kitl	T	A	10: 99,923,300 (GRCm39)	F15L	probably benign	Het
Ktn1	T	G	14: 47,932,964 (GRCm39)	L706R	probably damaging	Het
Lipg	T	C	18: 75,081,118 (GRCm39)	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 25,122,033 (GRCm39)	D710G	probably benign	Het
Mchr1	A	G	15: 81,120,021 (GRCm39)	N16S	probably benign	Het
Myadml2	A	T	11: 120,538,553 (GRCm39)	L94*	probably null	Het
Npr3	C	A	15: 11,848,649 (GRCm39)	M439I	probably benign	Het
Obscn	A	G	11: 58,894,474 (GRCm39)	I6677T	unknown	Het
Ogn	A	C	13: 49,774,520 (GRCm39)	D221A	probably benign	Het
Or8b40	T	C	9: 38,027,230 (GRCm39)	I46T	probably benign	Het
Pard3b	C	A	1: 62,677,053 (GRCm39)	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,157,785 (GRCm39)	E608G	probably benign	Het
Pdlim1	T	C	19: 40,211,516 (GRCm39)	D259G	probably benign	Het
Per1	T	C	11: 68,994,453 (GRCm39)	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,634,209 (GRCm39)	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,022,081 (GRCm39)	D307E	probably damaging	Het
Rims4	T	C	2: 163,721,042 (GRCm39)	S70G	probably damaging	Het
Rnf213	T	C	11: 119,332,665 (GRCm39)	F2625L	probably benign	Het
Sap130	T	C	18: 31,799,525 (GRCm39)	L334P	probably damaging	Het
Slc16a10	T	C	10: 39,952,796 (GRCm39)	I233V	probably benign	Het
Slc16a7	A	C	10: 125,066,791 (GRCm39)	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,043,586 (GRCm39)	M81T	probably benign	Het
Slc30a9	A	G	5: 67,484,264 (GRCm39)	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,726,483 (GRCm39)	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,336,345 (GRCm39)	G333D	probably damaging	Het
Stam	T	C	2: 14,146,639 (GRCm39)	S446P	probably benign	Het
Stk38	T	A	17: 29,198,206 (GRCm39)	N248I	possibly damaging	Het
Tasor2	A	G	13: 3,626,374 (GRCm39)	V1192A	possibly damaging	Het
Tle6	A	C	10: 81,431,219 (GRCm39)	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,809,490 (GRCm39)	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Tpm1	T	C	9: 66,930,711 (GRCm39)	H262R	probably benign	Het
Tyk2	A	G	9: 21,019,218 (GRCm39)	V1068A	probably damaging	Het
Ubr2	T	C	17: 47,283,877 (GRCm39)	I591V	probably benign	Het
Utp20	A	T	10: 88,600,599 (GRCm39)	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,298,464 (GRCm39)	I146N	possibly damaging	Het
Zfp608	T	C	18: 55,031,126 (GRCm39)	Y938C	probably damaging	Het

Other mutations in Tspan33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0227:Tspan33	UTSW	6	29,713,477 (GRCm39)	missense	probably damaging	0.96
R0329:Tspan33	UTSW	6	29,711,091 (GRCm39)	critical splice donor site	probably null
R0330:Tspan33	UTSW	6	29,711,091 (GRCm39)	critical splice donor site	probably null
R2078:Tspan33	UTSW	6	29,709,970 (GRCm39)	missense	probably benign
R5705:Tspan33	UTSW	6	29,717,232 (GRCm39)	missense	probably benign	0.07
R5815:Tspan33	UTSW	6	29,710,688 (GRCm39)	missense	probably damaging	1.00
R7101:Tspan33	UTSW	6	29,716,783 (GRCm39)	missense	probably benign	0.02
R7375:Tspan33	UTSW	6	29,713,519 (GRCm39)	missense	probably benign	0.17
R7535:Tspan33	UTSW	6	29,717,588 (GRCm39)	missense	possibly damaging	0.48
R7570:Tspan33	UTSW	6	29,717,337 (GRCm39)	missense	probably damaging	1.00
R8731:Tspan33	UTSW	6	29,717,310 (GRCm39)	missense	probably damaging	0.98
R9034:Tspan33	UTSW	6	29,717,611 (GRCm39)	nonsense	probably null
R9238:Tspan33	UTSW	6	29,710,652 (GRCm39)	missense	probably damaging	0.99
RF011:Tspan33	UTSW	6	29,716,729 (GRCm39)	missense	probably damaging	1.00
RF049:Tspan33	UTSW	6	29,709,997 (GRCm39)	critical splice donor site	probably benign
X0020:Tspan33	UTSW	6	29,710,630 (GRCm39)	missense	probably damaging	0.98
X0020:Tspan33	UTSW	6	29,694,532 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAAAAGCCTTGCTTGCTCGTC -3'
(R):5'- TGGTTCAGAACAGGGTCTGCCTTC -3'

Sequencing Primer
(F):5'- CCATAGCATTGTCCTAGAGGC -3'
(R):5'- ACAGGGTTTGAGTAACAGTCTC -3'

Posted On

2014-04-13