Mutagenetix > Incidental Mutation

Incidental Mutation 'R7942:Tspan18'

649088

Institutional Source

Beutler Lab

Gene Symbol

Tspan18

Ensembl Gene

ENSMUSG00000027217

Gene Name

tetraspanin 18

Synonyms

2610042G18Rik

MMRRC Submission

045988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7942 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93032105-93164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93041203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

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: V133A

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

SMART Domains

Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: V133A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111265
AA Change: V133A

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

SMART Domains

Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: V133A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,087,027 (GRCm39)	I565T	probably damaging	Het
Adamts8	G	A	9: 30,864,778 (GRCm39)	C423Y	probably damaging	Het
Adamts8	G	A	9: 30,870,209 (GRCm39)		probably null	Het
Ahctf1	A	C	1: 179,613,660 (GRCm39)	V490G	possibly damaging	Het
Akap13	A	G	7: 75,261,218 (GRCm39)	T478A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ano9	T	C	7: 140,683,989 (GRCm39)	S559G	probably damaging	Het
Aox1	A	G	1: 58,376,590 (GRCm39)	T924A	probably damaging	Het
Atp13a1	A	G	8: 70,259,870 (GRCm39)	E1126G	probably damaging	Het
Bcan	A	G	3: 87,900,382 (GRCm39)	V617A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldnd1	A	T	16: 58,550,078 (GRCm39)	N87I	possibly damaging	Het
Enpp2	A	T	15: 54,709,275 (GRCm39)	V784E	probably damaging	Het
Eps8	T	A	6: 137,507,575 (GRCm39)	Y51F	possibly damaging	Het
Fam184b	T	C	5: 45,741,595 (GRCm39)	K212R	probably benign	Het
Fbn1	A	C	2: 125,254,706 (GRCm39)	C186G	possibly damaging	Het
Fsip1	G	A	2: 117,967,092 (GRCm39)	T411I	probably benign	Het
Glyr1	T	C	16: 4,836,785 (GRCm39)	T460A	probably benign	Het
Gm19410	G	A	8: 36,238,940 (GRCm39)	G70R	probably damaging	Het
Gna15	G	A	10: 81,359,745 (GRCm39)	T15I	probably damaging	Het
Heg1	T	C	16: 33,571,570 (GRCm39)	C1198R	probably damaging	Het
Hoxd1	A	G	2: 74,594,504 (GRCm39)	Y253C	probably damaging	Het
Il17re	G	T	6: 113,443,111 (GRCm39)	Q316H	probably damaging	Het
Jakmip1	C	A	5: 37,331,182 (GRCm39)	P621T	probably benign	Het
Krt71	T	C	15: 101,643,894 (GRCm39)	Y448C	probably damaging	Het
Lgals8	A	G	13: 12,468,137 (GRCm39)		probably null	Het
Marchf11	A	G	15: 26,409,505 (GRCm39)	*401W	probably null	Het
Mctp1	A	T	13: 76,789,829 (GRCm39)		probably null	Het
Mms19	C	A	19: 41,944,400 (GRCm39)	V310F	probably damaging	Het
Mycbp2	A	T	14: 103,392,674 (GRCm39)	F3296I	probably damaging	Het
Myo7b	A	T	18: 32,146,422 (GRCm39)	I121N	probably damaging	Het
Nr0b2	T	C	4: 133,280,847 (GRCm39)	S38P	probably benign	Het
Nudt16l1	T	A	16: 4,757,243 (GRCm39)	M52K	probably benign	Het
Or3a4	A	G	11: 73,945,054 (GRCm39)	I177T	probably damaging	Het
Or8k32	T	C	2: 86,368,566 (GRCm39)	N229S	probably benign	Het
Polr3gl	A	T	3: 96,489,552 (GRCm39)		probably null	Het
Ptch2	T	A	4: 116,963,198 (GRCm39)	F228L	probably benign	Het
Slc35d1	A	G	4: 103,070,360 (GRCm39)		probably null	Het
Slc41a1	G	A	1: 131,768,635 (GRCm39)	V198I	probably damaging	Het
Slc5a7	T	C	17: 54,583,709 (GRCm39)	D527G	possibly damaging	Het
Spaca7b	A	G	8: 11,705,615 (GRCm39)	I164T	unknown	Het
Spag16	G	T	1: 69,866,247 (GRCm39)	A29S	probably benign	Het
Speer4f2	T	A	5: 17,582,630 (GRCm39)	D284E	unknown	Het
Sspo	A	G	6: 48,465,434 (GRCm39)		probably null	Het
Tdpoz1	T	C	3: 93,578,517 (GRCm39)	K89R	possibly damaging	Het
Tek	C	T	4: 94,740,111 (GRCm39)		probably null	Het
Tet3	C	T	6: 83,353,956 (GRCm39)	V902M	probably damaging	Het
Tpcn2	C	T	7: 144,810,928 (GRCm39)	V590M	probably damaging	Het
Trcg1	T	C	9: 57,149,499 (GRCm39)	V357A	probably benign	Het
Unc5b	A	T	10: 60,613,322 (GRCm39)	W305R	probably damaging	Het
Vmn2r95	T	A	17: 18,660,529 (GRCm39)	L314I	possibly damaging	Het
Wdsub1	G	A	2: 59,707,061 (GRCm39)	A178V	probably damaging	Het
Zfp407	A	G	18: 84,577,754 (GRCm39)	S1120P	probably benign	Het
Zfp57	T	C	17: 37,320,566 (GRCm39)	F140S	probably 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
R6707:Tspan18	UTSW	2	93,040,302 (GRCm39)	missense	probably benign	0.27
R7389:Tspan18	UTSW	2	93,040,272 (GRCm39)	missense	probably benign	0.05
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'- AGTGCTGTGCAAATGACGATG -3'
(R):5'- TCAGCCTATGATGAGACACAC -3'

Sequencing Primer
(F):5'- TCAAGAGTAGGATCAGTGATTCTTG -3'
(R):5'- GCCTATGATGAGACACACCAAAGTTC -3'

Posted On

2020-09-15