Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Tspan12'

505592

Institutional Source

Beutler Lab

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

Accession Numbers

Essential gene?

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

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21771394-21852514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21799970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000117820 (fasta)

Gene Model

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

AlphaFold

Q8BKT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031678
AA Change: S126P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: S126P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120965
AA Change: S126P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: S126P

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: S126P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669
AA Change: S126P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134635
AA Change: S126P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669
AA Change: S126P

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

Meta Mutation Damage Score

0.3692

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,978 (GRCm39)	S83P	possibly damaging	Het
Actr10	A	T	12: 70,999,733 (GRCm39)	E176D	probably benign	Het
Adcy3	G	A	12: 4,258,662 (GRCm39)		probably null	Het
AI429214	T	A	8: 37,461,278 (GRCm39)	I142N	probably damaging	Het
Alox12	A	G	11: 70,143,936 (GRCm39)	L148S	probably damaging	Het
Ank3	A	G	10: 69,809,680 (GRCm39)	I1147V	probably benign	Het
Apoc2	C	T	7: 19,407,493 (GRCm39)	V12I	probably benign	Het
Arap3	T	C	18: 38,124,407 (GRCm39)	S311G	probably benign	Het
Arih2	G	T	9: 108,488,841 (GRCm39)	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,101,843 (GRCm39)	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,800 (GRCm39)	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,114,616 (GRCm39)	N118K	probably damaging	Het
Cntnap5b	A	G	1: 99,999,827 (GRCm39)	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,161,966 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	T	A	2: 180,302,048 (GRCm39)	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,871,283 (GRCm39)		probably null	Het
Dnal4	T	A	15: 79,646,714 (GRCm39)	M56L	probably damaging	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Eps8l2	A	G	7: 140,922,015 (GRCm39)	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479 (GRCm39)	L112*	probably null	Het
Etl4	C	T	2: 20,813,900 (GRCm39)	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,330,400 (GRCm39)	F510L	probably benign	Het
Fam114a2	G	T	11: 57,383,942 (GRCm39)	T324K	possibly damaging	Het
Fer1l4	G	A	2: 155,888,091 (GRCm39)	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,436,173 (GRCm39)	S2R	probably benign	Het
Fscn1	A	T	5: 142,946,778 (GRCm39)	D192V	possibly damaging	Het
Gm3486	T	A	14: 41,206,472 (GRCm39)	*200C	probably null	Het
Gusb	A	T	5: 130,029,366 (GRCm39)	H138Q	probably benign	Het
Hdac9	A	T	12: 34,578,293 (GRCm39)	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,284,964 (GRCm39)	R439L	probably benign	Het
Hoxd9	A	G	2: 74,528,980 (GRCm39)	E194G	probably benign	Het
Itgb1	A	G	8: 129,448,902 (GRCm39)	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,437,216 (GRCm39)	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,123,983 (GRCm39)	S727L	possibly damaging	Het
Klhdc4	A	G	8: 122,540,507 (GRCm39)	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,596,137 (GRCm39)	V62A	probably damaging	Het
Krit1	A	G	5: 3,863,032 (GRCm39)		probably null	Het
Krt40	A	G	11: 99,432,566 (GRCm39)	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,208,738 (GRCm39)	T464A	probably benign	Het
Lrrc52	T	G	1: 167,293,964 (GRCm39)	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,408,692 (GRCm39)	V35F	probably damaging	Het
Mccc1	A	G	3: 36,044,313 (GRCm39)	V171A	probably damaging	Het
Metap1d	A	T	2: 71,346,104 (GRCm39)	R222*	probably null	Het
Mrgpre	G	A	7: 143,334,603 (GRCm39)	A300V	probably benign	Het
Mterf1b	C	A	5: 4,246,606 (GRCm39)	N82K	probably benign	Het
Myh9	C	T	15: 77,669,422 (GRCm39)	W533*	probably null	Het
Myom2	A	G	8: 15,148,472 (GRCm39)		probably null	Het
Ncor1	G	A	11: 62,257,808 (GRCm39)	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,344,611 (GRCm39)		probably benign	Het
Or10x1	T	G	1: 174,197,236 (GRCm39)	V251G	probably benign	Het
Or11a4	T	A	17: 37,536,451 (GRCm39)	L145*	probably null	Het
Or2a57	C	T	6: 43,212,838 (GRCm39)	Q99*	probably null	Het
Or2w6	A	T	13: 21,843,244 (GRCm39)	I83N	possibly damaging	Het
Or52p2	T	C	7: 102,237,237 (GRCm39)	T238A	probably benign	Het
Or6c210	A	G	10: 129,496,532 (GRCm39)	I286V	probably benign	Het
Or6z1	A	T	7: 6,504,675 (GRCm39)	C183*	probably null	Het
Pcdha11	T	C	18: 37,138,950 (GRCm39)	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,639,285 (GRCm39)	F604I	probably damaging	Het
Pde1a	T	C	2: 79,708,545 (GRCm39)	H291R	probably damaging	Het
Pfkm	G	A	15: 98,024,260 (GRCm39)	V423M	probably damaging	Het
Pira1	C	A	7: 3,739,337 (GRCm39)	E510D	probably benign	Het
Pkd2l1	G	T	19: 44,146,108 (GRCm39)	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,392,955 (GRCm39)	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Prpf39	A	C	12: 65,089,528 (GRCm39)	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,587,537 (GRCm39)	F743L	probably damaging	Het
Raver2	A	G	4: 100,991,320 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,783,709 (GRCm39)	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,495,957 (GRCm39)	F13L	probably benign	Het
Scd2	T	C	19: 44,291,448 (GRCm39)	F296L	probably damaging	Het
Scg2	G	T	1: 79,414,023 (GRCm39)	D233E	probably benign	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,636,286 (GRCm39)	V644E	unknown	Het
Slc44a5	G	T	3: 153,969,678 (GRCm39)	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,234 (GRCm39)	R107*	probably null	Het
Sun5	G	T	2: 153,702,589 (GRCm39)	T189K	probably damaging	Het
Tap1	A	T	17: 34,412,151 (GRCm39)	E452V	probably damaging	Het
Tcam1	A	G	11: 106,173,652 (GRCm39)	N32S	probably benign	Het
Tep1	T	C	14: 51,067,715 (GRCm39)	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmem175	T	C	5: 108,793,821 (GRCm39)	V317A	probably damaging	Het
Tsga13	A	G	6: 30,874,139 (GRCm39)	V231A	probably benign	Het
Uvrag	G	T	7: 98,637,398 (GRCm39)	D143E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,036 (GRCm39)	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,852,287 (GRCm39)	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,049,284 (GRCm39)	T822A	probably benign	Het
Vmn2r67	T	C	7: 84,799,768 (GRCm39)	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,667,386 (GRCm39)	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962 (GRCm39)	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp831	A	T	2: 174,486,308 (GRCm39)	T328S	possibly 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
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
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
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'- ACTATGCAGGCTTCAGGTTTCC -3'
(R):5'- ACCTGAGCTGAATTCATAGGC -3'

Sequencing Primer
(F):5'- GCTTCAGGTTTCCGTTCAGATAAATG -3'
(R):5'- AGCTGAATTCATAGGCAAGTATAAAC -3'

Posted On

2018-02-28