Mutagenetix > Incidental Mutation

Incidental Mutation 'R3424:Tspan31'

267860

Institutional Source

Beutler Lab

Gene Symbol

Tspan31

Ensembl Gene

ENSMUSG00000006736

Gene Name

tetraspanin 31

Synonyms

Tspan31, Sas, 2700085A14Rik

MMRRC Submission

040642-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R3424 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126903149-126906133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126904371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 141 (Q141L)

Ref Sequence

ENSEMBL: ENSMUSP00000057751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]

AlphaFold

Q9CQ88

Predicted Effect

probably benign
Transcript: ENSMUST00000006911

SMART Domains

Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	295	9.2e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060991
AA Change: Q141L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736
AA Change: Q141L

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	200	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120226

SMART Domains

Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	103	6e-10	PFAM
low complexity region	121	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123456

Predicted Effect

probably benign
Transcript: ENSMUST00000125682

SMART Domains

Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	261	5.19e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133115

SMART Domains

Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	250	1.55e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218488

Predicted Effect

probably benign
Transcript: ENSMUST00000142558

SMART Domains

Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	74	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	G	T	12: 31,234,632 (GRCm39)		noncoding transcript	Het
Atp8b3	T	C	10: 80,372,181 (GRCm39)	E16G	probably benign	Het
BC016579	T	A	16: 45,449,846 (GRCm39)	I191F	probably damaging	Het
Cdh23	T	G	10: 60,212,660 (GRCm39)	I1584L	possibly damaging	Het
Cep250	G	A	2: 155,823,381 (GRCm39)	D1011N	probably benign	Het
Coro2b	A	T	9: 62,336,590 (GRCm39)		probably null	Het
Csf3r	A	G	4: 125,937,549 (GRCm39)	D811G	probably damaging	Het
Dst	T	G	1: 34,237,586 (GRCm39)		probably benign	Het
Gabrr1	T	C	4: 33,158,058 (GRCm39)	L227P	probably damaging	Het
Galnt10	T	C	11: 57,536,539 (GRCm39)	V52A	probably benign	Het
Golga4	A	C	9: 118,363,715 (GRCm39)	D229A	probably benign	Het
Heatr5b	G	A	17: 79,075,833 (GRCm39)	T1495I	possibly damaging	Het
Hoxd4	A	G	2: 74,557,657 (GRCm39)	Y12C	probably damaging	Het
Hps1	A	T	19: 42,748,952 (GRCm39)	M522K	possibly damaging	Het
Lrrc8e	A	T	8: 4,284,611 (GRCm39)	I279F	probably damaging	Het
Mettl24	C	T	10: 40,559,637 (GRCm39)	Q96*	probably null	Het
Muc2	A	G	7: 141,279,595 (GRCm39)	N193S	probably damaging	Het
Mysm1	A	G	4: 94,853,558 (GRCm39)	L347P	probably benign	Het
Or10g9	T	A	9: 39,911,830 (GRCm39)	E231V	probably damaging	Het
Oxtr	G	T	6: 112,454,191 (GRCm39)	H24Q	probably benign	Het
Paxip1	A	G	5: 27,980,671 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,432 (GRCm39)		probably benign	Het
Ros1	C	A	10: 52,004,512 (GRCm39)		probably null	Het
Slc18b1	T	G	10: 23,698,874 (GRCm39)	M348R	probably damaging	Het
Slco4c1	A	T	1: 96,768,976 (GRCm39)	S295R	probably benign	Het
Tmeff2	A	G	1: 51,018,776 (GRCm39)		probably benign	Het
Virma	G	T	4: 11,513,177 (GRCm39)	E344*	probably null	Het
Zbtb17	G	T	4: 141,192,299 (GRCm39)	G415C	probably damaging	Het

Other mutations in Tspan31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02926:Tspan31	APN	10	126,904,778 (GRCm39)	splice site	probably null
R0989:Tspan31	UTSW	10	126,904,196 (GRCm39)	missense	probably damaging	0.97
R1848:Tspan31	UTSW	10	126,905,327 (GRCm39)	missense	probably damaging	1.00
R2104:Tspan31	UTSW	10	126,904,004 (GRCm39)	missense	probably damaging	1.00
R2327:Tspan31	UTSW	10	126,904,365 (GRCm39)	missense	probably benign	0.02
R6450:Tspan31	UTSW	10	126,904,227 (GRCm39)	missense	probably damaging	1.00
R7204:Tspan31	UTSW	10	126,903,987 (GRCm39)	makesense	probably null
R9033:Tspan31	UTSW	10	126,904,349 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCTCCTAGGATCTTGAGGG -3'
(R):5'- ATGGAGACTCCTGAACCGAAG -3'

Sequencing Primer
(F):5'- GTCTGAATGTTTAAGGAACCTCTCC -3'
(R):5'- GGGTATGTGAGGAGACTAATGTC -3'

Posted On

2015-02-18