Mutagenetix > Incidental Mutation

Incidental Mutation 'R0227:Tspan33'

33991

Institutional Source

Beutler Lab

Gene Symbol

Tspan33

Ensembl Gene

ENSMUSG00000001763

Gene Name

tetraspanin 33

Synonyms

Penumbra, Pen, 1300010A20Rik

MMRRC Submission

038472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0227 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29694221-29718558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29713477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 134 (V134M)

Ref Sequence

ENSEMBL: ENSMUSP00000110905 (fasta)

Gene Model

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

AlphaFold

Q8R3S2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046750
AA Change: V135M

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
AA Change: V135M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115250
AA Change: V134M

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
AA Change: V134M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137925

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

86% (37/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 136,989,438 (GRCm39)		probably benign	Het
Ankrd12	T	A	17: 66,294,222 (GRCm39)	T404S	probably benign	Het
Ap4m1	T	C	5: 138,174,538 (GRCm39)		probably benign	Het
Atn1	A	T	6: 124,723,893 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,533 (GRCm39)	Y202C	possibly damaging	Het
Ceacam18	G	T	7: 43,288,815 (GRCm39)	G189C	probably damaging	Het
Cfap65	C	T	1: 74,971,117 (GRCm39)	W67*	probably null	Het
Col2a1	C	T	15: 97,874,636 (GRCm39)	E1334K	unknown	Het
Crim1	A	G	17: 78,651,938 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,441,836 (GRCm39)	S343P	probably benign	Het
D430041D05Rik	G	T	2: 104,035,545 (GRCm39)	D1594E	possibly damaging	Het
Ess2	C	T	16: 17,720,135 (GRCm39)	V406I	probably damaging	Het
Gcm2	C	T	13: 41,259,332 (GRCm39)	V46M	probably damaging	Het
Gm3486	A	T	14: 41,206,518 (GRCm39)	V185E	probably benign	Het
Gtf3a	C	A	5: 146,892,199 (GRCm39)	R317S	probably damaging	Het
Ice2	A	G	9: 69,319,510 (GRCm39)	I320V	probably benign	Het
Jag1	A	G	2: 136,957,538 (GRCm39)	V58A	probably benign	Het
Macf1	T	C	4: 123,293,184 (GRCm39)	E1241G	probably benign	Het
Mogat2	T	A	7: 98,872,339 (GRCm39)	I171F	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myo1c	A	T	11: 75,549,520 (GRCm39)	Y201F	probably benign	Het
Myo9b	A	G	8: 71,796,806 (GRCm39)	I884V	probably damaging	Het
Nudt9	T	C	5: 104,209,541 (GRCm39)	I264T	possibly damaging	Het
Or8g30	A	G	9: 39,229,974 (GRCm39)	V312A	probably benign	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,101,876 (GRCm39)		probably benign	Het
Rabgef1	T	C	5: 130,219,831 (GRCm39)	V98A	probably damaging	Het
Raly	A	G	2: 154,707,841 (GRCm39)	D287G	probably damaging	Het
Raph1	A	G	1: 60,565,136 (GRCm39)	V117A	probably benign	Het
Slc34a2	T	C	5: 53,226,968 (GRCm39)	F697S	possibly damaging	Het
Son	T	A	16: 91,453,761 (GRCm39)	M836K	probably damaging	Het
Spock1	T	C	13: 57,588,290 (GRCm39)	M258V	possibly damaging	Het
Stk10	G	T	11: 32,567,859 (GRCm39)	C887F	probably damaging	Het
Synpo2	A	G	3: 122,907,442 (GRCm39)	S625P	probably benign	Het
Synrg	T	A	11: 83,900,258 (GRCm39)	D821E	probably damaging	Het
Tafa5	T	C	15: 87,604,691 (GRCm39)		probably benign	Het
Tg	C	A	15: 66,570,295 (GRCm39)	A1389E	possibly damaging	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Vmn1r210	C	T	13: 23,011,561 (GRCm39)	V242I	probably benign	Het
Vmn1r63	C	T	7: 5,805,741 (GRCm39)	W297*	probably null	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zic5	A	G	14: 122,697,073 (GRCm39)	I514T	unknown	Het

Other mutations in Tspan33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1554:Tspan33	UTSW	6	29,711,081 (GRCm39)	missense	possibly damaging	0.84
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'- GCCTCTGACCCTACAAAATGTGCTG -3'
(R):5'- AAGTCCATTGGCCTGGAGAGTGAG -3'

Sequencing Primer
(F):5'- ccacactacctacacctccc -3'
(R):5'- CTTCTGGCCAAAGTCGATGA -3'

Posted On

2013-05-09