Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Tspan32'

636482

Institutional Source

Beutler Lab

Gene Symbol

Tspan32

Ensembl Gene

ENSMUSG00000000244

Gene Name

tetraspanin 32

Synonyms

Tspan32, Art-1, Tssc6, Phemx, D7Wsu37e

MMRRC Submission

067637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142558644-142573223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142564832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 114 (Y114F)

Ref Sequence

ENSEMBL: ENSMUSP00000009396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009396] [ENSMUST00000075172] [ENSMUST00000082008] [ENSMUST00000105923] [ENSMUST00000105924] [ENSMUST00000105925] [ENSMUST00000143512] [ENSMUST00000145212] [ENSMUST00000207211]

AlphaFold

Q9JHH2

Predicted Effect

probably benign
Transcript: ENSMUST00000009396
AA Change: Y114F

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000009396
Gene: ENSMUSG00000000244
AA Change: Y114F

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	223	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075172
AA Change: Y87F

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074667
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	198	3.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082008
AA Change: Y87F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080668
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	146	7.1e-13	PFAM
transmembrane domain	155	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105923
AA Change: Y87F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101543
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	121	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105924
AA Change: Y87F

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101544
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	148	1.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105925
AA Change: Y87F

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101545
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143512

SMART Domains

Protein: ENSMUSP00000115344
Gene: ENSMUSG00000000244

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145212
AA Change: Y87F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116212
Gene: ENSMUSG00000000244
AA Change: Y87F

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207211

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap null mutation exhibit normal hematopoiesis, hemolytic and granulopoitic responses. B cells exhibit normal proliferative responses while T cells demonstrate enhanced proliferation upon T cell receptor stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,839,668 (GRCm39)	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iqch	C	T	9: 63,389,915 (GRCm39)	V755I	possibly damaging	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnh6	T	G	11: 105,908,200 (GRCm39)	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Krt80	T	G	15: 101,267,884 (GRCm39)	M18L	probably benign	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	Het

Other mutations in Tspan32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Tspan32	APN	7	142,568,691 (GRCm39)	intron	probably benign
IGL02122:Tspan32	APN	7	142,569,372 (GRCm39)	missense	probably damaging	0.99
IGL02830:Tspan32	APN	7	142,571,329 (GRCm39)	missense	possibly damaging	0.93
theron	UTSW	7	142,571,328 (GRCm39)	missense	probably benign	0.37
R0594:Tspan32	UTSW	7	142,569,347 (GRCm39)	missense	probably damaging	0.98
R1162:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R1317:Tspan32	UTSW	7	142,571,328 (GRCm39)	missense	probably benign	0.37
R1513:Tspan32	UTSW	7	142,558,886 (GRCm39)	missense	probably null	0.05
R2941:Tspan32	UTSW	7	142,568,729 (GRCm39)	missense	probably damaging	1.00
R3953:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R3955:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R3957:Tspan32	UTSW	7	142,560,735 (GRCm39)	missense	probably damaging	1.00
R5021:Tspan32	UTSW	7	142,568,715 (GRCm39)	missense	probably damaging	1.00
R5849:Tspan32	UTSW	7	142,569,324 (GRCm39)	missense	probably damaging	1.00
R6429:Tspan32	UTSW	7	142,572,479 (GRCm39)	missense	possibly damaging	0.59
R7205:Tspan32	UTSW	7	142,558,863 (GRCm39)	missense	possibly damaging	0.66
R7756:Tspan32	UTSW	7	142,570,959 (GRCm39)	missense	probably benign	0.32
R8412:Tspan32	UTSW	7	142,559,695 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTCCCAGAAAGAGCCTCCTG -3'
(R):5'- GCCCTCAAGCTATTATGGAGG -3'

Sequencing Primer
(F):5'- GAAAGAGCCTCCTGCCCCC -3'
(R):5'- CCCTCAAGCTATTATGGAGGTTCAAC -3'

Posted On

2020-07-13