Mutagenetix > Incidental Mutations

Incidental Mutation 'R5284:Tspan12'

402939

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

MMRRC Submission

042841-MU

Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene?

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

Stock #

R5284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21771395-21852515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21835467 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 69 (A69D)

Ref Sequence

ENSEMBL: ENSMUSP00000123475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000120965] [ENSMUST00000123116] [ENSMUST00000134635] [ENSMUST00000143531]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031678
AA Change: A69D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: A69D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120965
AA Change: A69D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: A69D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123116
AA Change: A69D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669
AA Change: A69D

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	203	4.1e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134635
AA Change: A69D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669
AA Change: A69D

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	129	1.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143531
AA Change: A3D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,981,059	Q1259L	probably benign	Het
AI314180	C	T	4: 58,836,172	E723K	possibly damaging	Het
Arhgef26	T	C	3: 62,419,631	S522P	probably damaging	Het
Asic5	C	T	3: 82,008,523	P218L	probably damaging	Het
Atad1	T	C	19: 32,687,271	M248V	probably benign	Het
Bank1	T	C	3: 136,064,154	D522G	probably damaging	Het
Bod1l	G	A	5: 41,820,467	S1168L	probably benign	Het
Cactin	A	G	10: 81,323,762	D51G	probably damaging	Het
Camkk1	A	G	11: 73,037,555	D261G	probably benign	Het
Cep152	A	G	2: 125,580,021	S930P	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Crim1	A	T	17: 78,313,266	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,522,682		probably null	Het
Dhdds	A	G	4: 133,980,212	V187A	probably benign	Het
Egfem1	A	G	3: 29,650,787	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,763,344		probably null	Het
Ep400	A	G	5: 110,668,124	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,798,800	T581S	probably damaging	Het
Erg	C	T	16: 95,459,243	M1I	probably null	Het
Fastkd1	T	C	2: 69,712,188	T92A	probably benign	Het
Gabpb1	T	C	2: 126,652,357	H116R	possibly damaging	Het
Gucy2c	A	G	6: 136,763,043	L262P	possibly damaging	Het
Ifi203	C	T	1: 173,928,708		probably benign	Het
Kcnk13	A	C	12: 100,061,289	I208L	probably benign	Het
Klhl7	A	G	5: 24,159,617	T550A	probably benign	Het
Krtap12-1	G	T	10: 77,720,965	C114F	possibly damaging	Het
Myh7b	A	G	2: 155,632,314	T1650A	probably benign	Het
Myo19	T	A	11: 84,885,272		probably null	Het
Nav1	C	T	1: 135,449,963	W1656*	probably null	Het
Nup188	A	T	2: 30,330,635	S907C	probably damaging	Het
Olfr212	T	A	6: 116,516,552	Y258*	probably null	Het
Oplah	A	T	15: 76,306,559	H125Q	probably benign	Het
Pcnx	A	T	12: 81,919,029	T657S	probably benign	Het
Phf14	C	A	6: 11,997,120	Q796K	probably damaging	Het
Plaa	T	C	4: 94,569,637	I699V	probably benign	Het
Prex2	C	A	1: 11,266,090	S1504*	probably null	Het
Prpf18	G	A	2: 4,645,670	Q50*	probably null	Het
Rnf213	A	G	11: 119,458,866	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,149,276	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,586,420	S487P	probably damaging	Het
Setdb1	G	T	3: 95,327,570	R941S	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Smg8	G	A	11: 87,080,311	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,279,947	V440E	probably damaging	Het
Tsen15	A	G	1: 152,371,873	S123P	probably damaging	Het
Ubiad1	G	A	4: 148,436,498	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,409,445	K90*	probably null	Het
Wdr19	C	T	5: 65,225,409	T492I	probably damaging	Het
Zfp423	C	T	8: 87,781,677	D659N	possibly damaging	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
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
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'- ATCTCCTAGGGAATGAAAGTGCC -3'
(R):5'- GGATGCCAATTTGGAGAGCTG -3'

Sequencing Primer
(F):5'- TCTTACAGGAGCTGCATAGTGACC -3'
(R):5'- CTGGAGCTCTCAGTAGCATTTGC -3'

Posted On

2016-07-22