Mutagenetix > Incidental Mutation

Incidental Mutation 'R6707:Tspan18'

528967

Institutional Source

Beutler Lab

Gene Symbol

Tspan18

Ensembl Gene

ENSMUSG00000027217

Gene Name

tetraspanin 18

Synonyms

2610042G18Rik

MMRRC Submission

044825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93032105-93164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93040302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 151 (N151S)

Ref Sequence

ENSEMBL: ENSMUSP00000106896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028646] [ENSMUST00000111265]

AlphaFold

Q80WR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028646
AA Change: N151S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: N151S

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	247	1.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111265
AA Change: N151S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: N151S

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	247	3.3e-50	PFAM

Meta Mutation Damage Score

0.2550

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Actg2	C	T	6: 83,490,076 (GRCm39)	W341*	probably null	Het
Adam29	C	T	8: 56,325,135 (GRCm39)	G440R	probably damaging	Het
Arfgef3	T	C	10: 18,496,903 (GRCm39)	D1153G	probably benign	Het
Arhgef28	T	C	13: 98,211,624 (GRCm39)	T120A	possibly damaging	Het
Arhgef28	G	T	13: 98,073,224 (GRCm39)	Q1371K	probably damaging	Het
BC051665	A	T	13: 60,932,222 (GRCm39)	D122E	probably benign	Het
Boc	A	T	16: 44,320,979 (GRCm39)	I227N	possibly damaging	Het
Clca3b	T	A	3: 144,550,288 (GRCm39)	Q219L	probably benign	Het
Cplane1	G	A	15: 8,252,606 (GRCm39)	V1943M	probably benign	Het
Cyp2c66	T	A	19: 39,174,944 (GRCm39)	F448Y	probably damaging	Het
Ddx5	A	G	11: 106,673,058 (GRCm39)	M489T	probably benign	Het
Dnm1	T	C	2: 32,226,253 (GRCm39)	D312G	probably null	Het
Ecpas	T	A	4: 58,879,101 (GRCm39)	I63L	possibly damaging	Het
Eqtn	T	C	4: 94,796,056 (GRCm39)	D215G	probably benign	Het
Evi5l	A	T	8: 4,256,322 (GRCm39)	T706S	probably benign	Het
Gtf2f1	T	C	17: 57,314,770 (GRCm39)	E90G	probably benign	Het
Hpx	A	T	7: 105,244,682 (GRCm39)	S168T	probably benign	Het
Ipo4	C	A	14: 55,866,361 (GRCm39)	V773L	possibly damaging	Het
Ireb2	C	T	9: 54,811,245 (GRCm39)	T716I	probably damaging	Het
Klhl21	A	G	4: 152,096,784 (GRCm39)	D350G	possibly damaging	Het
Myh13	A	T	11: 67,241,086 (GRCm39)	N821I	probably damaging	Het
Nipbl	G	T	15: 8,354,043 (GRCm39)	T1698K	probably benign	Het
Nod2	A	G	8: 89,391,817 (GRCm39)	H686R	probably benign	Het
Ntf3	A	G	6: 126,141,691 (GRCm39)		probably null	Het
Or6c215	G	T	10: 129,637,689 (GRCm39)	A235D	probably damaging	Het
Or6c69	T	C	10: 129,747,608 (GRCm39)	T180A	probably benign	Het
Parp9	A	T	16: 35,768,303 (GRCm39)	H161L	probably damaging	Het
Pkhd1l1	A	G	15: 44,392,539 (GRCm39)	N1625D	probably benign	Het
Rdx	T	C	9: 51,974,954 (GRCm39)	F30S	probably damaging	Het
Smo	T	A	6: 29,736,173 (GRCm39)	V55E	probably benign	Het
Sox9	C	A	11: 112,673,698 (GRCm39)	N96K	probably damaging	Het
Spp2	T	G	1: 88,345,016 (GRCm39)		probably null	Het
Tex46	A	G	4: 136,340,161 (GRCm39)	N82S	probably benign	Het
Timm22	C	T	11: 76,298,151 (GRCm39)	L41F	possibly damaging	Het
Tmem30a	A	T	9: 79,681,547 (GRCm39)	Y207*	probably null	Het
Tmem70	T	C	1: 16,747,531 (GRCm39)	V216A	probably damaging	Het
Vmn2r90	T	C	17: 17,948,364 (GRCm39)	C537R	probably damaging	Het
Vps50	A	G	6: 3,545,583 (GRCm39)	Y339C	probably damaging	Het
Zp2	C	T	7: 119,733,145 (GRCm39)	G599R	possibly damaging	Het

Other mutations in Tspan18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Tspan18	APN	2	93,041,198 (GRCm39)	missense	probably damaging	1.00
IGL02897:Tspan18	APN	2	93,050,518 (GRCm39)	missense	possibly damaging	0.92
R2513:Tspan18	UTSW	2	93,050,440 (GRCm39)	missense	possibly damaging	0.81
R3826:Tspan18	UTSW	2	93,050,453 (GRCm39)	missense	probably benign	0.00
R3827:Tspan18	UTSW	2	93,050,453 (GRCm39)	missense	probably benign	0.00
R3830:Tspan18	UTSW	2	93,050,453 (GRCm39)	missense	probably benign	0.00
R4114:Tspan18	UTSW	2	93,142,291 (GRCm39)	critical splice donor site	probably null
R4697:Tspan18	UTSW	2	93,142,375 (GRCm39)	splice site	probably null
R5468:Tspan18	UTSW	2	93,040,207 (GRCm39)	missense	probably benign
R6358:Tspan18	UTSW	2	93,040,219 (GRCm39)	missense	probably benign	0.17
R7389:Tspan18	UTSW	2	93,040,272 (GRCm39)	missense	probably benign	0.05
R7942:Tspan18	UTSW	2	93,041,203 (GRCm39)	missense	probably benign	0.01
R7955:Tspan18	UTSW	2	93,040,305 (GRCm39)	missense	possibly damaging	0.81
R8155:Tspan18	UTSW	2	93,040,357 (GRCm39)	splice site	probably null
R9255:Tspan18	UTSW	2	93,040,200 (GRCm39)	missense	probably benign
R9328:Tspan18	UTSW	2	93,036,065 (GRCm39)	missense	probably benign	0.12
R9510:Tspan18	UTSW	2	93,050,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTGCCCATATTTGAGAAGTG -3'
(R):5'- GTGCACTGCTTACCAAGTGC -3'

Sequencing Primer
(F):5'- AGAAGTGTCTCCCCGCCTG -3'
(R):5'- GGTAAGGAACATACGGCCATGTC -3'

Posted On

2018-07-24