Mutagenetix > Incidental Mutation

Incidental Mutation 'R0745:Tspan17'

70933

Institutional Source

Beutler Lab

Gene Symbol

Tspan17

Ensembl Gene

ENSMUSG00000025875

Gene Name

tetraspanin 17

Synonyms

2210021G21Rik, Tm4sf17, Fbxo23

MMRRC Submission

038926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54937190-54944589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54937487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000130765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000126525] [ENSMUST00000126785] [ENSMUST00000130568] [ENSMUST00000131692] [ENSMUST00000163796] [ENSMUST00000163915] [ENSMUST00000142158] [ENSMUST00000152204] [ENSMUST00000141398] [ENSMUST00000132005] [ENSMUST00000132415] [ENSMUST00000132728] [ENSMUST00000139184]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026993
AA Change: V27A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	16	263	6.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099503
AA Change: V27A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	16	266	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110003

SMART Domains

Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	227	2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126525

SMART Domains

Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
Pfam:IF4E	63	111	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126785

SMART Domains

Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
Pfam:IF4E	72	234	1.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130568

SMART Domains

Protein: ENSMUSP00000123607
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	3	174	1.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131692
AA Change: V27A

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	263	8.9e-58	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000171859
AA Change: V10A

SMART Domains

Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
AA Change: V10A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	79	3.6e-17	PFAM
Pfam:Tetraspannin	78	144	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163796
AA Change: V27A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	193	4.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163915
AA Change: V27A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	143	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142158

SMART Domains

Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:IF4E	71	233	4.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152204

SMART Domains

Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	170	9.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141398

SMART Domains

Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
Pfam:IF4E	1	90	6.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132005

SMART Domains

Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:IF4E	71	175	3e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132415

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
Pfam:IF4E	63	162	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132728

SMART Domains

Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	228	4.9e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139184

SMART Domains

Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	134	4.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145574

SMART Domains

Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	174	8.2e-38	PFAM

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,675,068 (GRCm39)		probably null	Het
Adam17	A	G	12: 21,382,222 (GRCm39)		probably benign	Het
Aldh1l2	T	A	10: 83,354,494 (GRCm39)		probably null	Het
Bltp1	A	G	3: 36,982,612 (GRCm39)	Y759C	probably damaging	Het
Brca2	A	T	5: 150,468,347 (GRCm39)		probably benign	Het
Capn13	A	C	17: 73,658,503 (GRCm39)	D188E	probably benign	Het
Col14a1	A	T	15: 55,201,813 (GRCm39)	T34S	unknown	Het
Col5a2	A	G	1: 45,446,387 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,761,688 (GRCm39)		probably benign	Het
Dlat	G	A	9: 50,565,008 (GRCm39)	T233M	probably damaging	Het
Eef2	C	T	10: 81,017,830 (GRCm39)	P831S	probably benign	Het
Endod1	A	T	9: 14,268,413 (GRCm39)	N357K	possibly damaging	Het
Evc	A	T	5: 37,476,403 (GRCm39)	V205E	probably damaging	Het
Fryl	A	G	5: 73,228,469 (GRCm39)	L1754P	probably damaging	Het
Gabra6	A	T	11: 42,207,394 (GRCm39)	M230K	probably damaging	Het
Hsd3b5	A	G	3: 98,526,855 (GRCm39)	V197A	probably benign	Het
Kmt2c	A	T	5: 25,564,696 (GRCm39)		probably null	Het
Mthfsd	A	T	8: 121,829,688 (GRCm39)	L116Q	probably damaging	Het
Mug1	A	G	6: 121,864,386 (GRCm39)	T1428A	probably benign	Het
Obscn	A	G	11: 58,973,065 (GRCm39)	V2312A	probably benign	Het
Or1i2	T	C	10: 78,447,956 (GRCm39)	E173G	probably benign	Het
Palld	G	A	8: 62,330,737 (GRCm39)	R47C	probably damaging	Het
Pds5b	A	G	5: 150,729,136 (GRCm39)	T1424A	probably benign	Het
Ppp6r2	G	A	15: 89,149,445 (GRCm39)		probably null	Het
Sik3	A	G	9: 46,109,537 (GRCm39)	N505S	probably benign	Het
Spin1	A	G	13: 51,293,551 (GRCm39)	Y87C	probably damaging	Het
Tcp11	T	C	17: 28,286,134 (GRCm39)	I494V	possibly damaging	Het
Tgfa	G	A	6: 86,248,417 (GRCm39)	E140K	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trmo	A	G	4: 46,382,104 (GRCm39)	F338L	probably damaging	Het
Tut4	C	G	4: 108,360,152 (GRCm39)		probably benign	Het
Uba5	A	G	9: 103,926,710 (GRCm39)		probably benign	Het
Unc5a	CTGTGTGTGTGTGTGT	CTGTGTGTGTGTGT	13: 55,153,068 (GRCm39)		probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het
Zfp451	A	T	1: 33,809,929 (GRCm39)	L931*	probably null	Het
Zmym4	A	T	4: 126,796,496 (GRCm39)		probably benign	Het

Other mutations in Tspan17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02681:Tspan17	APN	13	54,937,442 (GRCm39)	missense	probably damaging	0.99
R1128:Tspan17	UTSW	13	54,942,984 (GRCm39)	missense	probably damaging	1.00
R4738:Tspan17	UTSW	13	54,942,877 (GRCm39)	nonsense	probably null
R5905:Tspan17	UTSW	13	54,941,111 (GRCm39)	missense	probably damaging	0.98
R6028:Tspan17	UTSW	13	54,941,111 (GRCm39)	missense	probably damaging	0.98
R6389:Tspan17	UTSW	13	54,943,429 (GRCm39)	splice site	probably null
R6919:Tspan17	UTSW	13	54,943,846 (GRCm39)	missense	probably damaging	1.00
R7050:Tspan17	UTSW	13	54,943,876 (GRCm39)	missense	probably benign	0.39
R7346:Tspan17	UTSW	13	54,940,434 (GRCm39)	missense	probably benign	0.01
R7408:Tspan17	UTSW	13	54,937,466 (GRCm39)	missense	probably benign	0.15
R7429:Tspan17	UTSW	13	54,943,785 (GRCm39)	missense	probably benign	0.03
R7430:Tspan17	UTSW	13	54,943,785 (GRCm39)	missense	probably benign	0.03
R9039:Tspan17	UTSW	13	54,943,991 (GRCm39)	nonsense	probably null
R9803:Tspan17	UTSW	13	54,941,092 (GRCm39)	missense	probably benign	0.06
Z1177:Tspan17	UTSW	13	54,944,034 (GRCm39)	makesense	probably null
Z1177:Tspan17	UTSW	13	54,940,591 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGACTGAACTTGACTGGGACG -3'
(R):5'- ACTTGGGGCTGCAAAGAGAGACTC -3'

Sequencing Primer
(F):5'- TTTGACCATGAAGCCGCAG -3'
(R):5'- ACCTCCTGCTGGGACTG -3'

Posted On

2013-09-30