Mutagenetix > Incidental Mutations

Incidental Mutation 'R5045:Tespa1'

394341

Institutional Source

Beutler Lab

Gene Symbol

Tespa1

Ensembl Gene

ENSMUSG00000034833

Gene Name

thymocyte expressed, positive selection associated 1

Synonyms

MMRRC Submission

042635-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130322870-130364111 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 130362035 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 309 (K309*)

Ref Sequence

ENSEMBL: ENSMUSP00000047284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042586] [ENSMUST00000217702]

Predicted Effect

probably null
Transcript: ENSMUST00000042586
AA Change: K309*

SMART Domains

Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: K309*

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
KRAP_IP3R_bind	128	292	2.24e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217702

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired late thymocyte development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,476,178		probably benign	Het
2210408I21Rik	A	G	13: 77,267,808		probably null	Het
4930430A15Rik	T	A	2: 111,193,459	Q110L	unknown	Het
4930519P11Rik	A	T	2: 154,613,030	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,613,062		probably benign	Het
Adgrb3	T	A	1: 25,074,779	H1189L	probably damaging	Het
Arhgap24	A	G	5: 102,891,877	I227V	possibly damaging	Het
Arhgap29	C	A	3: 122,002,595	N445K	probably benign	Het
Atp13a3	T	C	16: 30,339,876	H811R	probably benign	Het
Cd2ap	T	C	17: 42,807,960	N529S	probably benign	Het
Cdh7	T	A	1: 110,098,350	S439T	probably benign	Het
Ces3a	G	T	8: 105,050,616		probably null	Het
Cftr	T	A	6: 18,230,081	N408K	probably benign	Het
Chil5	T	C	3: 106,024,140	N136S	possibly damaging	Het
Col20a1	A	G	2: 181,006,845	D933G	probably damaging	Het
Crh	A	T	3: 19,693,989	L163*	probably null	Het
Ctps	A	C	4: 120,552,878		probably null	Het
Cyb5d2	A	G	11: 72,795,575	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,391,071		probably null	Het
Dclk3	A	T	9: 111,467,788	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,392,995	D29G	probably benign	Het
Disp2	G	A	2: 118,792,062	E1092K	probably benign	Het
Enpp3	A	G	10: 24,776,767	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,273,359	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,677,885	I272V	probably benign	Het
Fgb	T	C	3: 83,043,373	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,792,869	S142T	unknown	Het
Gm4858	G	T	3: 93,074,217	D181Y	probably damaging	Het
Golga4	A	G	9: 118,565,656	T9A	probably benign	Het
Hmcn2	C	T	2: 31,409,081	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,583,820	G34R	probably damaging	Het
Kalrn	A	C	16: 34,314,352	Y353*	probably null	Het
Klrk1	T	C	6: 129,617,503	Y42C	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mbtd1	T	C	11: 93,931,815	Y484H	probably benign	Het
Mki67	T	C	7: 135,707,904	R273G	possibly damaging	Het
Myh11	A	T	16: 14,239,527	L308*	probably null	Het
Nacc2	G	A	2: 26,090,138		probably null	Het
Nadsyn1	A	G	7: 143,806,969	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,460,424	Q354L	probably benign	Het
Olfr1124	A	T	2: 87,435,146	I220L	probably damaging	Het
Olfr584	G	A	7: 103,086,457	G308E	probably benign	Het
Phactr3	T	C	2: 178,331,619	I470T	probably damaging	Het
Pkd1l3	C	T	8: 109,623,155	P211S	unknown	Het
Prickle2	T	C	6: 92,376,394	D753G	probably damaging	Het
Prr12	A	G	7: 45,049,894		probably benign	Het
Psd3	T	C	8: 67,713,825	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,821,522	K551*	probably null	Het
Stag3	T	C	5: 138,304,478	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,593,684	Q378L	possibly damaging	Het
Trim69	A	G	2: 122,174,246	T275A	probably benign	Het
Txndc17	T	C	11: 72,207,711	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,474,892	F72L	probably damaging	Het
Vmn2r59	A	T	7: 42,046,072	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,624,389	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,100,920	H375R	probably damaging	Het

Other mutations in Tespa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tespa1	APN	10	130355484	missense	probably damaging	1.00
R0081:Tespa1	UTSW	10	130360850	missense	probably damaging	1.00
R0544:Tespa1	UTSW	10	130360811	missense	probably damaging	1.00
R1381:Tespa1	UTSW	10	130360691	missense	probably benign	0.45
R1781:Tespa1	UTSW	10	130348250	missense	probably benign	0.37
R1912:Tespa1	UTSW	10	130354723	missense	probably benign	0.37
R1927:Tespa1	UTSW	10	130348239	missense	probably benign	0.00
R2428:Tespa1	UTSW	10	130362075	missense	probably damaging	0.99
R3907:Tespa1	UTSW	10	130356797	splice site	probably benign
R4439:Tespa1	UTSW	10	130361957	missense	probably damaging	1.00
R4440:Tespa1	UTSW	10	130361957	missense	probably damaging	1.00
R4441:Tespa1	UTSW	10	130361957	missense	probably damaging	1.00
R4836:Tespa1	UTSW	10	130362159	missense	probably benign	0.00
R5566:Tespa1	UTSW	10	130355487	nonsense	probably null
R5670:Tespa1	UTSW	10	130354755	missense	probably damaging	0.96
R5691:Tespa1	UTSW	10	130354769	critical splice donor site	probably null
R6173:Tespa1	UTSW	10	130347303	missense	probably benign	0.08
R7325:Tespa1	UTSW	10	130362041	missense	probably damaging	1.00
R7455:Tespa1	UTSW	10	130360690	missense	probably benign	0.00
R7577:Tespa1	UTSW	10	130354755	missense	probably damaging	0.96
R7783:Tespa1	UTSW	10	130356883	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACACCATCCAACATGTTCTGG -3'
(R):5'- TACTGTGGACCTGGTCTTGC -3'

Sequencing Primer
(F):5'- CTGGAATTTCGACCCAACGGATG -3'
(R):5'- GACCTGGTCTTGCTAGAGC -3'

Posted On

2016-06-15