Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Tspan1'

439326

Institutional Source

Beutler Lab

Gene Symbol

Tspan1

Ensembl Gene

ENSMUSG00000028699

Gene Name

tetraspanin 1

Synonyms

9030418M05Rik

MMRRC Submission

043271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116019066-116024798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116021277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

Ref Sequence

ENSEMBL: ENSMUSP00000121906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030465] [ENSMUST00000106494] [ENSMUST00000106496] [ENSMUST00000106498] [ENSMUST00000120083] [ENSMUST00000121052] [ENSMUST00000143426]

AlphaFold

Q99J59

Predicted Effect

probably benign
Transcript: ENSMUST00000030465
AA Change: V109A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030465
Gene: ENSMUSG00000028699
AA Change: V109A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	6	239	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106494

SMART Domains

Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
PDB:2YOQ\|C	106	195	6e-10	PDB
Pfam:GNT-I	271	591	3e-52	PFAM
low complexity region	623	636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106496

SMART Domains

Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOP\|C	129	217	5e-10	PDB
Pfam:GNT-I	260	580	2.9e-52	PFAM
low complexity region	612	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106498

SMART Domains

Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120083

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
Pfam:ILEI	129	220	8.9e-28	PFAM
Pfam:GNT-I	293	612	1.9e-51	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121052

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154534

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143426
AA Change: V109A

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121906
Gene: ENSMUSG00000028699
AA Change: V109A

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	6	224	7.3e-47	PFAM

Meta Mutation Damage Score

0.0941

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,516,661 (GRCm39)	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,804,740 (GRCm39)	F851S	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,347,086 (GRCm39)	N1027I	probably benign	Het
Cacng4	A	T	11: 107,625,610 (GRCm39)	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143 (GRCm39)	V199A	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Ctnna1	A	G	18: 35,382,795 (GRCm39)	D647G	probably benign	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Exoc6	T	A	19: 37,566,977 (GRCm39)	V258D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	A	1: 174,437,377 (GRCm39)	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,283,326 (GRCm39)	T60A	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,676,869 (GRCm39)	Y428H	probably damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,771,227 (GRCm39)	V933A	probably damaging	Het
Nepn	A	T	10: 52,277,233 (GRCm39)	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,245 (GRCm39)	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,238,033 (GRCm39)	T199A	probably benign	Het
Obscn	T	G	11: 59,013,674 (GRCm39)	K1150Q	probably benign	Het
Or12j5	A	C	7: 140,084,318 (GRCm39)	V18G	probably benign	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or7a38	A	G	10: 78,752,933 (GRCm39)	I86M	possibly damaging	Het
Or7e170	T	A	9: 19,795,272 (GRCm39)	M110L	probably benign	Het
Otop1	G	A	5: 38,451,848 (GRCm39)	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,078,239 (GRCm39)	D494Y	probably damaging	Het
Pop5	G	A	5: 115,378,260 (GRCm39)	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,800,223 (GRCm39)	D518G	probably benign	Het
Preb	G	T	5: 31,117,307 (GRCm39)		probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rag1	G	A	2: 101,474,137 (GRCm39)	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,608,746 (GRCm39)	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,631,312 (GRCm39)	N649D	probably benign	Het
Smarcal1	A	G	1: 72,625,372 (GRCm39)	D173G	probably benign	Het
Smg7	A	G	1: 152,718,985 (GRCm39)	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,005,246 (GRCm39)	S796T	possibly damaging	Het
Tex14	A	G	11: 87,413,404 (GRCm39)	T1052A	probably benign	Het
Ttbk2	A	G	2: 120,637,305 (GRCm39)	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Ubr2	G	T	17: 47,245,126 (GRCm39)	C1633*	probably null	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,805,318 (GRCm39)	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	Het

Other mutations in Tspan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00560:Tspan1	APN	4	116,020,176 (GRCm39)	unclassified	probably benign
IGL02622:Tspan1	APN	4	116,021,052 (GRCm39)	splice site	probably benign
R1970:Tspan1	UTSW	4	116,020,826 (GRCm39)	missense	possibly damaging	0.50
R2112:Tspan1	UTSW	4	116,020,885 (GRCm39)	splice site	probably null
R4022:Tspan1	UTSW	4	116,024,232 (GRCm39)	missense	probably benign	0.35
R4899:Tspan1	UTSW	4	116,020,563 (GRCm39)	nonsense	probably null
R5325:Tspan1	UTSW	4	116,021,536 (GRCm39)	missense	probably damaging	0.99
R5853:Tspan1	UTSW	4	116,020,502 (GRCm39)	splice site	probably null
R7403:Tspan1	UTSW	4	116,020,219 (GRCm39)	missense	probably benign	0.03
R7939:Tspan1	UTSW	4	116,024,209 (GRCm39)	missense	probably damaging	1.00
R8089:Tspan1	UTSW	4	116,021,532 (GRCm39)	missense	probably null	0.79
R8432:Tspan1	UTSW	4	116,021,151 (GRCm39)	missense	probably benign	0.01
R8918:Tspan1	UTSW	4	116,020,970 (GRCm39)	missense	probably damaging	1.00
R9533:Tspan1	UTSW	4	116,020,211 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGGGTGAAATCAGTCTGGTAACC -3'
(R):5'- TGTGTTGGATTCAGCTCCCC -3'

Sequencing Primer
(F):5'- CATAGTCTTTTTCGATAGCAGGCAC -3'
(R):5'- GGCCCACAACCAAGGGTTTC -3'

Posted On

2016-10-26