Mutagenetix > Incidental Mutation

Incidental Mutation 'R7346:Tspan17'

570219

Institutional Source

Beutler Lab

Gene Symbol

Tspan17

Ensembl Gene

ENSMUSG00000025875

Gene Name

tetraspanin 17

Synonyms

2210021G21Rik, Tm4sf17, Fbxo23

MMRRC Submission

045373-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54937190-54944589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 54940434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 34 (L34V)

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 benign
Transcript: ENSMUST00000026993
AA Change: L34V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: L34V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099503
AA Change: L34V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: L34V

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

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: L34V

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

SMART Domains

Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: L34V

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

probably benign
Transcript: ENSMUST00000145574

SMART Domains

Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163796

SMART Domains

Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163915

SMART Domains

Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
AA Change: L17V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,914,587 (GRCm39)	P52S	unknown	Het
Adarb2	A	G	13: 8,620,420 (GRCm39)	E302G	probably damaging	Het
Adgrf5	T	A	17: 43,762,070 (GRCm39)	L1255H	probably damaging	Het
Adra1a	T	A	14: 66,875,733 (GRCm39)	I236N	probably benign	Het
As3mt	T	C	19: 46,708,891 (GRCm39)	F295S	probably damaging	Het
Bmp5	G	A	9: 75,780,642 (GRCm39)	R313Q	probably damaging	Het
Ccnj	T	A	19: 40,833,394 (GRCm39)	S191T	probably benign	Het
Clk2	T	A	3: 89,080,852 (GRCm39)		probably null	Het
Cpz	T	C	5: 35,675,000 (GRCm39)	E83G	probably damaging	Het
Cts3	A	G	13: 61,715,434 (GRCm39)	I133T	probably benign	Het
Dars2	C	T	1: 160,874,342 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,788,798 (GRCm39)	V579D	probably damaging	Het
Dync1h1	C	A	12: 110,602,076 (GRCm39)	A2038E	probably damaging	Het
Eaf1	A	G	14: 31,216,777 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,828,524 (GRCm39)	I6774L	probably benign	Het
Glis2	T	C	16: 4,431,432 (GRCm39)	F320L	possibly damaging	Het
Hcar1	A	G	5: 124,017,693 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,797,104 (GRCm39)	H2211Q	probably benign	Het
Hmcn1	A	G	1: 150,559,496 (GRCm39)	I2385T	probably damaging	Het
Ifi44	T	A	3: 151,438,094 (GRCm39)	M398L	probably benign	Het
Il16	C	T	7: 83,293,249 (GRCm39)	E1273K	probably damaging	Het
Inpp5j	G	A	11: 3,451,065 (GRCm39)	T528I	probably damaging	Het
Kbtbd6	C	T	14: 79,690,627 (GRCm39)	P441S	probably damaging	Het
Kcnt1	C	T	2: 25,753,855 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,358,306 (GRCm39)	L139P	probably damaging	Het
Klb	C	T	5: 65,505,974 (GRCm39)	Q74*	probably null	Het
L3mbtl1	G	A	2: 162,808,926 (GRCm39)	V600I	probably benign	Het
Lcp1	C	T	14: 75,447,946 (GRCm39)	A317V	possibly damaging	Het
Lipc	C	T	9: 70,720,029 (GRCm39)	G326D	probably damaging	Het
Mbnl2	T	A	14: 120,616,694 (GRCm39)	F103I	probably benign	Het
Mdm1	G	T	10: 118,000,193 (GRCm39)	E609*	probably null	Het
Med16	A	G	10: 79,744,650 (GRCm39)		probably null	Het
Mga	T	C	2: 119,766,008 (GRCm39)	V1424A	possibly damaging	Het
Mocs2	G	T	13: 114,964,710 (GRCm39)		probably null	Het
Morc1	C	T	16: 48,451,263 (GRCm39)		probably null	Het
Mpc2	T	A	1: 165,307,080 (GRCm39)	W94R	probably damaging	Het
Mrm3	G	A	11: 76,141,002 (GRCm39)	V337I	possibly damaging	Het
N4bp3	T	C	11: 51,536,433 (GRCm39)	H133R	probably benign	Het
Ncam2	G	T	16: 81,420,256 (GRCm39)	G810V	probably damaging	Het
Nipbl	T	C	15: 8,373,090 (GRCm39)	E1052G	possibly damaging	Het
Nlrp12	C	T	7: 3,297,887 (GRCm39)	V95M	probably damaging	Het
Nrip1	T	C	16: 76,090,244 (GRCm39)	N438D	possibly damaging	Het
Nsun4	C	A	4: 115,909,035 (GRCm39)	M508I	probably benign	Het
Pla2g2c	T	C	4: 138,461,650 (GRCm39)	S40P	probably damaging	Het
Plec	A	G	15: 76,082,178 (GRCm39)		probably null	Het
Ppfia2	G	T	10: 106,693,356 (GRCm39)	M620I	possibly damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prkd1	A	T	12: 50,695,617 (GRCm39)	I47N	possibly damaging	Het
Prr14l	T	C	5: 32,988,028 (GRCm39)	D489G	probably benign	Het
Ptch2	T	A	4: 116,971,849 (GRCm39)	Y1124N	probably benign	Het
Ptpra	T	G	2: 130,395,320 (GRCm39)	Y808D	probably damaging	Het
Rint1	T	A	5: 24,020,651 (GRCm39)	F558Y	possibly damaging	Het
Rnf215	T	A	11: 4,089,792 (GRCm39)	C268*	probably null	Het
Slc25a13	T	C	6: 6,181,100 (GRCm39)	E28G	possibly damaging	Het
Slc38a8	G	T	8: 120,226,554 (GRCm39)	Y78*	probably null	Het
Slc4a7	T	C	14: 14,775,000 (GRCm38)	M810T	probably damaging	Het
Slitrk1	A	G	14: 109,150,591 (GRCm39)	V40A	possibly damaging	Het
Sobp	A	T	10: 42,898,831 (GRCm39)	S251R	probably damaging	Het
Spata31d1a	G	A	13: 59,851,015 (GRCm39)	S371L	probably benign	Het
Tada2b	T	C	5: 36,634,180 (GRCm39)	T133A	possibly damaging	Het
Tbc1d20	A	G	2: 152,146,881 (GRCm39)	D90G	probably benign	Het
Tek	T	A	4: 94,715,533 (GRCm39)	I408K	probably benign	Het
Tgfb2	A	G	1: 186,382,077 (GRCm39)	F150S	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Vmn1r238	A	T	18: 3,123,151 (GRCm39)	Y88N	probably damaging	Het
Vmn1r85	A	G	7: 12,818,964 (GRCm39)	I60T	probably damaging	Het
Vmn2r96	T	C	17: 18,803,029 (GRCm39)	M313T	probably benign	Het
Zp3r	G	A	1: 130,511,217 (GRCm39)	S387F	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
R0745:Tspan17	UTSW	13	54,937,487 (GRCm39)	missense	possibly damaging	0.45
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
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'- ATGCACAGCTTTGGGAGTGG -3'
(R):5'- GAGCAGGAAGGTGTTTTCCC -3'

Sequencing Primer
(F):5'- GGGGCGGGGCTAAGTCC -3'
(R):5'- GAAGCCCAACACTGACATGACTC -3'

Posted On

2019-09-13