Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Tspan12'

378568

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21771394-21852514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21835448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 9 (I9S)

Ref Sequence

ENSEMBL: ENSMUSP00000144717 (fasta)

Gene Model

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

AlphaFold

Q8BKT6

Predicted Effect

probably benign
Transcript: ENSMUST00000031678
AA Change: I75S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: I75S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120965
AA Change: I75S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: I75S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123116
AA Change: I75S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669
AA Change: I75S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134635
AA Change: I75S

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

SMART Domains

Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669
AA Change: I75S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143531
AA Change: I9S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,662 (GRCm39)	N65K	probably benign	Het
Abcc9	T	C	6: 142,536,162 (GRCm39)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,778,019 (GRCm39)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,783,553 (GRCm39)	V284A	possibly damaging	Het
Adam3	T	C	8: 25,174,630 (GRCm39)	M712V	probably benign	Het
Adck1	T	C	12: 88,407,908 (GRCm39)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,659,957 (GRCm39)	W242L	probably damaging	Het
Alk	T	C	17: 72,211,310 (GRCm39)	T857A	probably benign	Het
Alms1	A	G	6: 85,605,528 (GRCm39)	T2393A	probably benign	Het
Ank3	C	T	10: 69,837,939 (GRCm39)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,592,140 (GRCm39)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,957,094 (GRCm39)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 99,019,920 (GRCm39)	F114L	probably damaging	Het
Cage1	G	A	13: 38,203,184 (GRCm39)	H627Y	probably benign	Het
Cars1	T	C	7: 143,123,212 (GRCm39)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,719,814 (GRCm39)	E487G	probably damaging	Het
Ccdc80	A	T	16: 44,938,530 (GRCm39)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,403,913 (GRCm39)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,870,672 (GRCm39)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,113,513 (GRCm39)	T766S	unknown	Het
Chst15	T	A	7: 131,849,613 (GRCm39)	T443S	probably benign	Het
Cnbp	T	C	6: 87,822,128 (GRCm39)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,443,770 (GRCm39)	V1003E	possibly damaging	Het
Crct1	A	G	3: 92,922,132 (GRCm39)		probably benign	Het
Dand5	C	T	8: 85,543,113 (GRCm39)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,470,658 (GRCm39)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,299,196 (GRCm39)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 141,635,891 (GRCm39)		probably benign	Het
Eef1akmt1	C	T	14: 57,788,089 (GRCm39)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,480,992 (GRCm39)	W168L	probably benign	Het
Ep400	A	G	5: 110,813,676 (GRCm39)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,223,676 (GRCm39)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,887,452 (GRCm39)	N747D	probably benign	Het
Fancm	T	C	12: 65,123,915 (GRCm39)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,432,214 (GRCm39)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,472,160 (GRCm39)		probably null	Het
Flt4	T	C	11: 49,517,970 (GRCm39)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,334,082 (GRCm39)	H136R	possibly damaging	Het
Frem3	T	A	8: 81,339,765 (GRCm39)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,725,315 (GRCm39)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,312,184 (GRCm39)	M760K	probably damaging	Het
Glis3	T	C	19: 28,643,504 (GRCm39)	T13A	probably damaging	Het
H2-K2	A	G	17: 34,216,050 (GRCm39)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,475,927 (GRCm39)	A130V	probably damaging	Het
Herc2	T	A	7: 55,879,438 (GRCm39)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,699,914 (GRCm39)	R56H	possibly damaging	Het
Itgb4	A	G	11: 115,897,431 (GRCm39)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,316,979 (GRCm39)	Y745H	probably damaging	Het
Kank3	G	T	17: 34,036,174 (GRCm39)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm39)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 27,139,997 (GRCm39)	R53W	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Lcat	G	A	8: 106,669,074 (GRCm39)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,532,471 (GRCm39)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm39)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,231,410 (GRCm39)	R12S	probably damaging	Het
Msr1	T	C	8: 40,077,292 (GRCm39)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,144,854 (GRCm39)	L1256Q	probably damaging	Het
Mypn	G	A	10: 62,983,715 (GRCm39)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,906,467 (GRCm39)	N331I	probably benign	Het
Nup107	A	G	10: 117,606,416 (GRCm39)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,367,993 (GRCm39)	F174L	probably benign	Het
Or10d5	A	C	9: 39,861,521 (GRCm39)	V182G	probably damaging	Het
Or52ab2	A	T	7: 102,969,750 (GRCm39)	N44I	probably damaging	Het
Or9q2	T	C	19: 13,772,829 (GRCm39)	I49V	probably benign	Het
Parp2	C	A	14: 51,056,725 (GRCm39)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,707,162 (GRCm39)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,876,525 (GRCm39)	D411G	probably damaging	Het
Pkd1l2	T	C	8: 117,781,624 (GRCm39)	E807G	probably benign	Het
Pkd1l2	A	T	8: 117,799,288 (GRCm39)	N267K	probably damaging	Het
Pramel24	A	T	4: 143,454,896 (GRCm39)	K398M	possibly damaging	Het
Rell1	C	A	5: 64,093,376 (GRCm39)	M126I	probably damaging	Het
Robo4	G	A	9: 37,313,856 (GRCm39)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,987,637 (GRCm39)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,549,826 (GRCm39)	V169A	probably benign	Het
Rubcn	C	T	16: 32,667,664 (GRCm39)	V166I	probably damaging	Het
Sall2	T	C	14: 52,552,850 (GRCm39)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,451,863 (GRCm39)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,799,519 (GRCm39)	I182T	probably benign	Het
Selp	A	G	1: 163,968,966 (GRCm39)	D522G	possibly damaging	Het
Sema4b	T	A	7: 79,848,504 (GRCm39)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,235,403 (GRCm39)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,377,742 (GRCm39)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,747,859 (GRCm39)	I233L	probably benign	Het
Slc35f1	A	G	10: 52,938,698 (GRCm39)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 44,937,734 (GRCm39)	E350G	possibly damaging	Het
Spata21	A	T	4: 140,839,402 (GRCm39)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm39)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,660,649 (GRCm39)	T56A	probably benign	Het
Tigit	A	T	16: 43,482,380 (GRCm39)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,600,342 (GRCm39)	Q776L	possibly damaging	Het
Unc5c	T	A	3: 141,494,727 (GRCm39)	Y347N	probably damaging	Het
Unk	A	G	11: 115,945,771 (GRCm39)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,371,650 (GRCm39)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,740,473 (GRCm39)	M259L	probably benign	Het
Zan	T	C	5: 137,406,632 (GRCm39)		probably benign	Het
Zdhhc6	T	C	19: 55,301,642 (GRCm39)	H113R	probably damaging	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
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
R6052:Tspan12	UTSW	6	21,772,637 (GRCm39)	missense	probably benign	0.09
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'- GAAAGTGCCCTTCTTACAGGAGC -3'
(R):5'- CACCAGCTTTTGAAGGATGCC -3'

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

Posted On

2016-04-15