Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Tspan17'

735331

Institutional Source

Beutler Lab

Gene Symbol

Tspan17

Ensembl Gene

ENSMUSG00000025875

Gene Name

tetraspanin 17

Synonyms

2210021G21Rik, Fbxo23, Tm4sf17

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54789377-54796776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54793279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 124 (Q124K)

Ref Sequence

ENSEMBL: ENSMUSP00000115287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000130568] [ENSMUST00000131692] [ENSMUST00000132728] [ENSMUST00000163796] [ENSMUST00000163915]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026993
AA Change: Q124K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: Q124K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099503
AA Change: Q124K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: Q124K

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: ENSMUST00000130568
AA Change: Q78K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123607
Gene: ENSMUSG00000025875
AA Change: Q78K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131692
AA Change: Q124K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: Q124K

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

SMART Domains

Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875
AA Change: Q34K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163796
AA Change: Q58K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
AA Change: Q58K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163915
AA Change: Q58K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875
AA Change: Q58K

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
AA Change: Q84K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Tspan17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02681:Tspan17	APN	13	54789629	missense	probably damaging	0.99
R0745:Tspan17	UTSW	13	54789674	missense	possibly damaging	0.45
R1128:Tspan17	UTSW	13	54795171	missense	probably damaging	1.00
R4738:Tspan17	UTSW	13	54795064	nonsense	probably null
R5905:Tspan17	UTSW	13	54793298	missense	probably damaging	0.98
R6028:Tspan17	UTSW	13	54793298	missense	probably damaging	0.98
R6389:Tspan17	UTSW	13	54795616	splice site	probably null
R6919:Tspan17	UTSW	13	54796033	missense	probably damaging	1.00
R7050:Tspan17	UTSW	13	54796063	missense	probably benign	0.39
R7346:Tspan17	UTSW	13	54792621	missense	probably benign	0.01
R7408:Tspan17	UTSW	13	54789653	missense	probably benign	0.15
R7429:Tspan17	UTSW	13	54795972	missense	probably benign	0.03
R7430:Tspan17	UTSW	13	54795972	missense	probably benign	0.03
R9039:Tspan17	UTSW	13	54796178	nonsense	probably null
Z1177:Tspan17	UTSW	13	54792778	frame shift	probably null
Z1177:Tspan17	UTSW	13	54796221	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGTGGTAGCCTAGCAG -3'
(R):5'- AAGGTTCCTTCCCTGGCATC -3'

Sequencing Primer
(F):5'- TGGAGCCTGAAGCCTGTG -3'
(R):5'- GCCTGGGTGGGTTAGGAAAC -3'

Posted On

2022-11-14