Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Tspan18'

573296

Institutional Source

Beutler Lab

Gene Symbol

Tspan18

Ensembl Gene

ENSMUSG00000027217

Gene Name

tetraspanin 18

Synonyms

2610042G18Rik

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93032105-93164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93040272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 161 (V161E)

Ref Sequence

ENSEMBL: ENSMUSP00000028646 (fasta)

Gene Model

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

AlphaFold

Q80WR1

Predicted Effect

probably benign
Transcript: ENSMUST00000028646
AA Change: V161E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: V161E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111265
AA Change: V161E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: V161E

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

Meta Mutation Damage Score

0.1837

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	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
R6707:Tspan18	UTSW	2	93,040,302 (GRCm39)	missense	probably benign	0.27
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'- ATTGTTTACAAAGCTCCAGCCC -3'
(R):5'- GAAGCTCAGGAACACAGGTC -3'

Sequencing Primer
(F):5'- CCAGCTTTGCCCATATTTGAGAAGTG -3'
(R):5'- GGTCATTACCGCAGTCATATGCAG -3'

Posted On

2019-09-13