Mutagenetix > Incidental Mutations

Incidental Mutation 'R7014:Tspan12'

545176

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

MMRRC Submission

Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene?

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

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21771395-21852515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21772919 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 210 (M210I)

Ref Sequence

ENSEMBL: ENSMUSP00000031678 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031678
AA Change: M210I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: M210I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120965
AA Change: M162I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: M162I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,454,574	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,503	I294N	probably damaging	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,049,427	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smarcad1	T	C	6: 65,052,670	S81P	probably damaging	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Wiz	C	A	17: 32,361,866	A83S	probably damaging	Het
Zmym6	T	A	4: 127,123,544	Y947*	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
R5372:Tspan12	UTSW	6	21772699	missense	probably benign	0.06
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
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'- GTTCCACAGAATGACATGACAAGTG -3'
(R):5'- CTGGACAGTATGAGCTACCAGG -3'

Sequencing Primer
(F):5'- CATGACAAGTGCTGAGACGTATC -3'
(R):5'- TATGAGCTACCAGGGCCTTTCAAG -3'

Posted On

2019-05-13