Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Tspan18'

275384

Institutional Source

Beutler Lab

Gene Symbol

Tspan18

Ensembl Gene

ENSMUSG00000027217

Gene Name

tetraspanin 18

Synonyms

2610042G18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93032105-93164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93050453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 57 (I57V)

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: I57V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: I57V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111265
AA Change: I57V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: I57V

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

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	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
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
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'- GGTAGTCAACAGCCCTCTATCC -3'
(R):5'- GATGAGATCCTGCCCAACTC -3'

Sequencing Primer
(F):5'- AGCCCTCTATCCACCCCC -3'
(R):5'- CTGCTAGGTGTTGGCATCT -3'

Posted On

2015-04-02