Mutagenetix > Incidental Mutation

Incidental Mutation 'R6052:Tspan12'

484147

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

MMRRC Submission

044220-MU

Accession Numbers

Essential gene?

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

Stock #

R6052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21771394-21852514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21772637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 304 (E304G)

Ref Sequence

ENSEMBL: ENSMUSP00000031678 (fasta)

Gene Model

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

AlphaFold

Q8BKT6

Predicted Effect

probably benign
Transcript: ENSMUST00000031678
AA Change: E304G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: E304G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120965
AA Change: E256G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: E256G

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

0.0863

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

96% (80/83)

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
Abca17	A	G	17: 24,537,165 (GRCm39)	F473L	probably benign	Het
Ankrd17	T	C	5: 90,401,691 (GRCm39)	I1449V	probably benign	Het
Aox4	T	A	1: 58,293,477 (GRCm39)	L943*	probably null	Het
Arap1	G	A	7: 101,053,240 (GRCm39)	V1257M	probably damaging	Het
B3gnt9	T	C	8: 105,981,230 (GRCm39)	S53G	probably benign	Het
Baiap3	A	T	17: 25,467,444 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,187,946 (GRCm39)	D554G	possibly damaging	Het
Cbfa2t2	T	C	2: 154,352,501 (GRCm39)	V165A	probably damaging	Het
Ccdc17	C	T	4: 116,457,145 (GRCm39)		probably null	Het
Cdcp1	A	G	9: 123,014,396 (GRCm39)	I126T	probably benign	Het
Cdk13	A	T	13: 17,895,800 (GRCm39)	D1036E	probably damaging	Het
Cfap157	A	G	2: 32,669,863 (GRCm39)	L240P	probably damaging	Het
Clec18a	C	A	8: 111,805,448 (GRCm39)	E218*	probably null	Het
Col3a1	T	C	1: 45,384,173 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,794,227 (GRCm39)	E682G	probably damaging	Het
Dnah14	T	C	1: 181,494,052 (GRCm39)	V1736A	possibly damaging	Het
Dpep2	T	A	8: 106,717,270 (GRCm39)	D162V	possibly damaging	Het
Drd3	C	A	16: 43,641,646 (GRCm39)	P321T	probably benign	Het
Egfr	A	G	11: 16,861,554 (GRCm39)	H1111R	probably benign	Het
Entpd1	T	C	19: 40,708,928 (GRCm39)	S58P	probably damaging	Het
Epha3	C	A	16: 63,423,967 (GRCm39)	V541L	possibly damaging	Het
Eri3	T	A	4: 117,421,825 (GRCm39)	D34E	probably damaging	Het
Eya1	T	C	1: 14,353,374 (GRCm39)	D58G	probably damaging	Het
Fat3	T	A	9: 15,833,975 (GRCm39)	S26C	probably null	Het
Fgl1	T	C	8: 41,653,548 (GRCm39)	D115G	probably damaging	Het
Fitm2	T	C	2: 163,312,036 (GRCm39)	Y59C	probably damaging	Het
Fras1	T	A	5: 96,912,725 (GRCm39)	I3343N	probably damaging	Het
Gba2	C	A	4: 43,568,330 (GRCm39)	C679F	probably damaging	Het
Glis2	G	A	16: 4,431,603 (GRCm39)		probably benign	Het
Gm5150	T	A	3: 16,044,917 (GRCm39)	I103F	probably damaging	Het
Hhipl2	T	C	1: 183,204,965 (GRCm39)	S313P	possibly damaging	Het
Hmgcs1	A	G	13: 120,166,995 (GRCm39)	D474G	probably benign	Het
Homer3	C	T	8: 70,744,076 (GRCm39)	Q267*	probably null	Het
Hsd17b8	A	G	17: 34,246,429 (GRCm39)	L118P	probably damaging	Het
Igkv8-28	C	T	6: 70,120,673 (GRCm39)	G90D	probably damaging	Het
Kalrn	T	A	16: 34,181,255 (GRCm39)	I128F	probably damaging	Het
Krt4	A	G	15: 101,831,194 (GRCm39)		probably null	Het
Lamb2	T	A	9: 108,364,811 (GRCm39)	C1188*	probably null	Het
Lsr	A	T	7: 30,658,042 (GRCm39)	M355K	probably damaging	Het
Map3k11	T	G	19: 5,747,430 (GRCm39)	D555E	probably benign	Het
Myocd	A	G	11: 65,087,082 (GRCm39)	Y282H	probably damaging	Het
Nae1	T	C	8: 105,261,176 (GRCm39)	I7M	probably benign	Het
Nprl3	G	T	11: 32,205,453 (GRCm39)	H102N	possibly damaging	Het
Nup62	T	A	7: 44,478,464 (GRCm39)	F160I	possibly damaging	Het
Or10w1	C	A	19: 13,631,871 (GRCm39)	P26Q	possibly damaging	Het
Or2d3c	A	T	7: 106,525,896 (GRCm39)	F257I	probably benign	Het
Or2r2	T	A	6: 42,463,588 (GRCm39)	T180S	possibly damaging	Het
Or5p76	A	G	7: 108,122,945 (GRCm39)	S71P	probably benign	Het
Or6c35	C	A	10: 129,169,071 (GRCm39)	T107K	possibly damaging	Het
Osbpl10	T	C	9: 114,896,383 (GRCm39)		probably null	Het
Pcdh9	C	T	14: 94,123,282 (GRCm39)	V963I	probably benign	Het
Phf12	A	G	11: 77,909,044 (GRCm39)	R375G	probably benign	Het
Piezo1	G	A	8: 123,233,008 (GRCm39)	T108M	probably damaging	Het
Plxnc1	T	A	10: 94,779,635 (GRCm39)	Q269L	probably benign	Het
Pomgnt1	T	A	4: 116,008,799 (GRCm39)	N11K	possibly damaging	Het
Pramel22	T	A	4: 143,382,222 (GRCm39)	D158V	probably damaging	Het
Prkd1	A	T	12: 50,413,083 (GRCm39)		probably null	Het
Prpf40a	T	C	2: 53,049,293 (GRCm39)	T190A	probably benign	Het
Prrc2b	A	C	2: 32,102,297 (GRCm39)	H790P	possibly damaging	Het
Rest	T	G	5: 77,429,027 (GRCm39)	V482G	probably benign	Het
Ros1	T	A	10: 52,039,999 (GRCm39)	I322L	probably benign	Het
Rpl18	G	A	7: 45,369,554 (GRCm39)		probably benign	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sbf2	A	G	7: 110,040,741 (GRCm39)	L362S	probably damaging	Het
Sgsm3	A	G	15: 80,893,464 (GRCm39)	T409A	probably benign	Het
Slc16a14	T	C	1: 84,890,430 (GRCm39)	T292A	possibly damaging	Het
Spg11	T	G	2: 121,927,837 (GRCm39)	K649T	probably damaging	Het
Srprb	T	A	9: 103,067,415 (GRCm39)	I268F	possibly damaging	Het
Tap2	G	A	17: 34,433,683 (GRCm39)	G566S	probably damaging	Het
Tecpr2	T	C	12: 110,885,325 (GRCm39)	V168A	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Tmem181a	T	A	17: 6,330,890 (GRCm39)	L50H	probably damaging	Het
Tshz1	A	G	18: 84,032,194 (GRCm39)	I738T	probably damaging	Het
Urb1	C	T	16: 90,559,271 (GRCm39)	G1671S	probably damaging	Het
Vmn2r2	T	C	3: 64,024,782 (GRCm39)	S600G	possibly damaging	Het
Wnt3	C	A	11: 103,699,000 (GRCm39)	Y35*	probably null	Het
Xpo7	T	C	14: 70,921,159 (GRCm39)	Y603C	possibly damaging	Het
Zfp457	G	A	13: 67,442,015 (GRCm39)	H91Y	probably damaging	Het
Zfp664	T	A	5: 124,963,250 (GRCm39)	C215S	unknown	Het
Zfp882	G	A	8: 72,668,349 (GRCm39)	G392D	probably benign	Het

Other mutations in Tspan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Tspan12	APN	6	21,851,081 (GRCm39)	utr 5 prime	probably benign
IGL02601:Tspan12	APN	6	21,835,378 (GRCm39)	unclassified	probably benign
IGL02992:Tspan12	APN	6	21,799,876 (GRCm39)	critical splice donor site	probably null
PIT4362001:Tspan12	UTSW	6	21,835,463 (GRCm39)	missense	possibly damaging	0.87
R1800:Tspan12	UTSW	6	21,795,699 (GRCm39)	missense	probably damaging	1.00
R1862:Tspan12	UTSW	6	21,851,022 (GRCm39)	missense	probably damaging	1.00
R1898:Tspan12	UTSW	6	21,795,693 (GRCm39)	missense	probably damaging	0.97
R2101:Tspan12	UTSW	6	21,799,887 (GRCm39)	missense	probably benign	0.00
R2351:Tspan12	UTSW	6	21,835,506 (GRCm39)	missense	probably benign
R4820:Tspan12	UTSW	6	21,795,660 (GRCm39)	missense	probably damaging	0.99
R4921:Tspan12	UTSW	6	21,835,448 (GRCm39)	missense	possibly damaging	0.66
R5284:Tspan12	UTSW	6	21,835,466 (GRCm39)	missense	probably damaging	0.97
R5341:Tspan12	UTSW	6	21,835,458 (GRCm39)	missense	possibly damaging	0.69
R5372:Tspan12	UTSW	6	21,772,698 (GRCm39)	missense	probably benign	0.06
R5929:Tspan12	UTSW	6	21,772,746 (GRCm39)	missense	possibly damaging	0.92
R6108:Tspan12	UTSW	6	21,772,770 (GRCm39)	missense	probably benign
R6207:Tspan12	UTSW	6	21,799,907 (GRCm39)	missense	probably damaging	1.00
R6248:Tspan12	UTSW	6	21,799,970 (GRCm39)	missense	probably damaging	1.00
R7014:Tspan12	UTSW	6	21,772,918 (GRCm39)	missense	probably benign	0.01
R7457:Tspan12	UTSW	6	21,772,682 (GRCm39)	missense	probably benign	0.09
R7776:Tspan12	UTSW	6	21,836,442 (GRCm39)	missense	probably damaging	1.00
ZE80:Tspan12	UTSW	6	21,795,608 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TTCGGCATTTTGAAGGGCAC -3'
(R):5'- AAATCCTGGCCATGATTCTCACC -3'

Sequencing Primer
(F):5'- GCACCAATTATTGTCTGTGTATTACC -3'
(R):5'- TGGCCATGATTCTCACCATTAC -3'

Posted On

2017-07-14