Mutagenetix > Incidental Mutations

Incidental Mutation 'R5372:Tspan12'

428782

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

MMRRC Submission

042948-MU

Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21771395-21852515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21772699 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 284 (S284P)

Ref Sequence

ENSEMBL: ENSMUSP00000031678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000120965]

Predicted Effect

probably benign
Transcript: ENSMUST00000031678
AA Change: S284P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: S284P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	248	1.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120965
AA Change: S236P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: S236P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	156	4.1e-23	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (89/93)

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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,055,339	D108E	probably damaging	Het
Abhd12b	A	G	12: 70,181,026	D194G	probably damaging	Het
Adck5	A	G	15: 76,594,507		probably benign	Het
Adgrb3	C	T	1: 25,128,859	V792I	probably benign	Het
Anxa8	G	A	14: 34,093,911	V174M	probably damaging	Het
Apol9b	A	T	15: 77,735,720	R239W	probably benign	Het
Arhgap26	A	G	18: 38,642,456		noncoding transcript	Het
Atrnl1	A	G	19: 57,755,536	Y1190C	probably benign	Het
Brinp3	T	G	1: 146,831,726	L376R	probably damaging	Het
Btbd2	A	T	10: 80,648,641	M132K	probably damaging	Het
C130073F10Rik	A	T	4: 101,890,487	I115K	probably damaging	Het
C1ra	T	A	6: 124,521,625	Y426N	probably damaging	Het
Cacna1b	A	T	2: 24,733,959	V203E	probably damaging	Het
Catsperg1	T	A	7: 29,210,712	D68V	probably benign	Het
Ccdc158	A	C	5: 92,632,560	S885A	possibly damaging	Het
Cdc42bpa	T	C	1: 180,064,979	V236A	probably damaging	Het
Cdca7	A	T	2: 72,482,449	E176D	probably damaging	Het
Cdk17	A	G	10: 93,226,039	D211G	probably benign	Het
Clca3a2	A	C	3: 144,797,525	M888R	probably benign	Het
Clcn7	T	A	17: 25,157,179	M568K	possibly damaging	Het
Clip1	G	T	5: 123,630,240	N811K	probably benign	Het
Col12a1	T	A	9: 79,678,366	Y1243F	probably damaging	Het
Dctn1	T	A	6: 83,190,210	D315E	probably damaging	Het
Dgcr2	T	C	16: 17,872,644	T41A	probably benign	Het
Dync2h1	G	A	9: 7,176,962		probably benign	Het
Ep300	A	G	15: 81,636,830	I1264V	unknown	Het
Fam167b	A	T	4: 129,578,299	L26Q	possibly damaging	Het
Fam178b	T	A	1: 36,564,848	I457F	possibly damaging	Het
Fgd4	A	T	16: 16,484,291	N133K	probably benign	Het
Fndc1	C	G	17: 7,765,210	V1295L	unknown	Het
Gad2	A	T	2: 22,690,243	D552V	possibly damaging	Het
Hars2	T	C	18: 36,790,481	Y361H	possibly damaging	Het
Heca	T	A	10: 17,915,139	S390C	probably damaging	Het
Hephl1	G	T	9: 15,097,899	Y132*	probably null	Het
Hormad1	T	A	3: 95,576,424	D182E	probably damaging	Het
Ifna15	G	A	4: 88,558,101	P49S	probably damaging	Het
Khsrp	T	C	17: 57,024,292	T429A	possibly damaging	Het
Magi2	A	G	5: 20,702,110	Q1094R	possibly damaging	Het
Map3k11	T	A	19: 5,690,962	I239K	probably damaging	Het
Mtus2	A	G	5: 148,313,412	T1319A	probably damaging	Het
Nup54	A	G	5: 92,417,857	I406T	probably damaging	Het
Nxpe2	T	C	9: 48,339,519	T43A	possibly damaging	Het
Nynrin	A	G	14: 55,868,491	E889G	probably benign	Het
Olfr1313	A	G	2: 112,072,109	I158T	probably benign	Het
Olfr160	T	C	9: 37,711,938	M114V	possibly damaging	Het
Olfr301	T	A	7: 86,412,968	I202N	possibly damaging	Het
Olfr663	A	G	7: 104,703,795	D76G	probably benign	Het
Opa1	A	C	16: 29,586,119	H45P	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Papola	A	G	12: 105,827,050	K543R	probably benign	Het
Plcxd3	G	A	15: 4,574,788	V293I	probably benign	Het
Polr2g	T	C	19: 8,797,303	Y72C	probably damaging	Het
Ppp1r21	A	G	17: 88,550,675	K205E	probably benign	Het
Ptpre	A	G	7: 135,653,940	K53E	possibly damaging	Het
Rasal3	T	C	17: 32,391,344	K990E	probably benign	Het
Rgs3	A	T	4: 62,652,697		probably benign	Het
Rhd	A	G	4: 134,884,632	T254A	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scube3	G	T	17: 28,152,482	C57F	probably damaging	Het
Sh2d5	A	G	4: 138,254,699	D57G	possibly damaging	Het
Slc12a6	T	A	2: 112,347,360	L608*	probably null	Het
Slk	A	T	19: 47,625,393	N896I	probably damaging	Het
Smc6	A	G	12: 11,282,430	D211G	probably damaging	Het
Sox6	A	T	7: 115,550,151	Y371*	probably null	Het
Srcap	G	A	7: 127,557,613		probably null	Het
Stard5	T	A	7: 83,633,220	D80E	probably damaging	Het
Supv3l1	C	T	10: 62,432,357	V570M	probably damaging	Het
Syt7	G	T	19: 10,426,621	V180L	probably damaging	Het
Tacc2	T	A	7: 130,623,260	H558Q	probably benign	Het
Tas2r120	T	A	6: 132,657,483	M176K	possibly damaging	Het
Tmem135	A	T	7: 89,165,174		probably null	Het
Trim35	T	C	14: 66,297,266	V66A	possibly damaging	Het
Ttll3	A	T	6: 113,401,421	K257*	probably null	Het
Uggt1	C	A	1: 36,244,060		probably benign	Het
Vmn2r7	T	A	3: 64,716,324	I283F	probably damaging	Het
Wdfy2	T	G	14: 62,954,885	H363Q	probably damaging	Het
Wdr4	T	A	17: 31,510,580	K95N	probably damaging	Het
Zfp141	T	C	7: 42,477,196	N91S	possibly damaging	Het
Zfp383	C	T	7: 29,915,270	R317*	probably null	Het

Other mutations in Tspan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Tspan12	APN	6	21851082	utr 5 prime	probably benign
IGL02601:Tspan12	APN	6	21835379	unclassified	probably benign
IGL02992:Tspan12	APN	6	21799877	critical splice donor site	probably null
PIT4362001:Tspan12	UTSW	6	21835464	missense	possibly damaging	0.87
R1800:Tspan12	UTSW	6	21795700	missense	probably damaging	1.00
R1862:Tspan12	UTSW	6	21851023	missense	probably damaging	1.00
R1898:Tspan12	UTSW	6	21795694	missense	probably damaging	0.97
R2101:Tspan12	UTSW	6	21799888	missense	probably benign	0.00
R2351:Tspan12	UTSW	6	21835507	missense	probably benign
R4820:Tspan12	UTSW	6	21795661	missense	probably damaging	0.99
R4921:Tspan12	UTSW	6	21835449	missense	possibly damaging	0.66
R5284:Tspan12	UTSW	6	21835467	missense	probably damaging	0.97
R5341:Tspan12	UTSW	6	21835459	missense	possibly damaging	0.69
R5929:Tspan12	UTSW	6	21772747	missense	possibly damaging	0.92
R6052:Tspan12	UTSW	6	21772638	missense	probably benign	0.09
R6108:Tspan12	UTSW	6	21772771	missense	probably benign
R6207:Tspan12	UTSW	6	21799908	missense	probably damaging	1.00
R6248:Tspan12	UTSW	6	21799971	missense	probably damaging	1.00
R7014:Tspan12	UTSW	6	21772919	missense	probably benign	0.01
R7457:Tspan12	UTSW	6	21772683	missense	probably benign	0.09
R7776:Tspan12	UTSW	6	21836443	missense	probably damaging	1.00
ZE80:Tspan12	UTSW	6	21795609	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GTCTGTGTATTACCATGTGGAACC -3'
(R):5'- GGAATCTCCATTGGTGTGACAC -3'

Sequencing Primer
(F):5'- GAGTGGAGAAATTCTTAGACATTCC -3'
(R):5'- CCATTGGTGTGACACAAATCCTGG -3'

Posted On

2016-09-06