Mutagenetix > Incidental Mutation

Incidental Mutation 'R7375:Tspan33'

572329

Institutional Source

Beutler Lab

Gene Symbol

Tspan33

Ensembl Gene

ENSMUSG00000001763

Gene Name

tetraspanin 33

Synonyms

Penumbra, Pen, 1300010A20Rik

MMRRC Submission

045458-MU

Accession Numbers

Essential gene?

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

Stock #

R7375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29694221-29718558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29713519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 149 (F149L)

Ref Sequence

ENSEMBL: ENSMUSP00000045282 (fasta)

Gene Model

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

AlphaFold

Q8R3S2

Predicted Effect

probably benign
Transcript: ENSMUST00000046750
AA Change: F149L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045282
Gene: ENSMUSG00000001763
AA Change: F149L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115250
AA Change: F148L

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110905
Gene: ENSMUSG00000001763
AA Change: F148L

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

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,968,671 (GRCm39)	I337V	probably benign	Het
Abl2	A	G	1: 156,450,184 (GRCm39)	D117G	probably damaging	Het
Arhgap5	T	A	12: 52,563,365 (GRCm39)	L112*	probably null	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Ccdc168	A	T	1: 44,099,694 (GRCm39)	I468N	possibly damaging	Het
Cfap91	T	A	16: 38,155,980 (GRCm39)	H81L	probably damaging	Het
Cmya5	T	G	13: 93,228,169 (GRCm39)	K2306N	probably damaging	Het
Col16a1	A	C	4: 129,959,294 (GRCm39)	K680T	unknown	Het
Col28a1	T	A	6: 7,998,499 (GRCm39)	T1137S	possibly damaging	Het
Crnn	A	T	3: 93,056,452 (GRCm39)	T413S	possibly damaging	Het
Csf1	A	G	3: 107,655,495 (GRCm39)	L512P	possibly damaging	Het
Dlx3	C	A	11: 95,011,461 (GRCm39)	A105D	possibly damaging	Het
Dnah3	T	G	7: 119,550,900 (GRCm39)	T161P	probably damaging	Het
Dnah7b	A	G	1: 46,342,794 (GRCm39)	D3435G	probably damaging	Het
Dpp10	A	G	1: 123,295,524 (GRCm39)	I541T	probably benign	Het
Efcc1	T	C	6: 87,728,838 (GRCm39)	V431A	possibly damaging	Het
Enpp5	T	C	17: 44,391,868 (GRCm39)	I99T	probably benign	Het
Gm11232	C	T	4: 71,675,583 (GRCm39)	W59*	probably null	Het
Gxylt2	A	T	6: 100,727,383 (GRCm39)	T166S	probably benign	Het
Herc6	A	T	6: 57,628,791 (GRCm39)		probably null	Het
Itga2	T	C	13: 115,005,753 (GRCm39)	I476V	probably benign	Het
Kcnq5	T	C	1: 21,539,710 (GRCm39)	T403A	possibly damaging	Het
Klhl42	A	G	6: 146,993,538 (GRCm39)	K170R	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Krt32	G	T	11: 99,972,050 (GRCm39)	R433S	probably benign	Het
Lrp1	G	T	10: 127,375,217 (GRCm39)	T4461N	probably damaging	Het
Mapk10	A	T	5: 103,124,256 (GRCm39)	M256K	probably null	Het
Mogat2	T	C	7: 98,872,905 (GRCm39)	K93R	probably damaging	Het
Myh1	G	T	11: 67,101,254 (GRCm39)	V677L	probably damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Oog4	G	A	4: 143,165,544 (GRCm39)	T201M	possibly damaging	Het
Or4a70	C	T	2: 89,324,036 (GRCm39)	G207R	possibly damaging	Het
Pik3c2a	T	C	7: 115,975,621 (GRCm39)	T649A	probably damaging	Het
Plec	T	A	15: 76,061,555 (GRCm39)	H2794L	possibly damaging	Het
Pros1	T	A	16: 62,744,913 (GRCm39)	N509K	probably damaging	Het
Psme3ip1	G	A	8: 95,309,636 (GRCm39)	L119F	probably benign	Het
Psme4	T	A	11: 30,722,700 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Rad50	A	G	11: 53,543,055 (GRCm39)		probably null	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Scpppq1	G	T	5: 104,219,123 (GRCm39)		probably null	Het
Sdk1	G	T	5: 141,984,598 (GRCm39)	V728L	probably benign	Het
Sfxn4	T	C	19: 60,847,112 (GRCm39)	D57G	probably benign	Het
Slc10a4	A	G	5: 73,169,650 (GRCm39)	D425G	probably benign	Het
Slc17a5	C	T	9: 78,495,174 (GRCm39)	A26T	probably benign	Het
Slc22a26	A	T	19: 7,760,509 (GRCm39)		probably null	Het
Slc22a30	A	G	19: 8,382,055 (GRCm39)	L72P	probably damaging	Het
Slco6c1	T	C	1: 97,009,146 (GRCm39)	T447A	possibly damaging	Het
Slco6d1	A	G	1: 98,349,172 (GRCm39)	N81S	probably damaging	Het
Stard9	T	C	2: 120,495,483 (GRCm39)		probably null	Het
Tecpr1	T	C	5: 144,145,417 (GRCm39)	E610G	possibly damaging	Het
Tmem81	G	T	1: 132,435,301 (GRCm39)	V36L	possibly damaging	Het
Trabd2b	G	T	4: 114,467,194 (GRCm39)	K474N	probably benign	Het
Ttn	A	G	2: 76,606,683 (GRCm39)	Y18076H	probably damaging	Het
Utrn	G	A	10: 12,516,764 (GRCm39)	R2277C	probably damaging	Het
Vmn2r101	T	A	17: 19,831,652 (GRCm39)	D549E	probably damaging	Het
Vmn2r107	T	A	17: 20,576,138 (GRCm39)	I156K	probably benign	Het
Wwc2	T	G	8: 48,316,955 (GRCm39)	S713R	unknown	Het
Xndc1	C	A	7: 101,730,687 (GRCm39)		probably null	Het
Zfp810	A	G	9: 22,201,833 (GRCm39)		probably null	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
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
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'- AATGTGCTGTGACAGTAAACCATAGAG -3'
(R):5'- CTATATGTAACATTCTATGCCCTTAGC -3'

Sequencing Primer
(F):5'- TTGGGCTTACCGATCCAAAG -3'
(R):5'- CAGTACCTGCCCCCACAAAG -3'

Posted On

2019-09-13