Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Tespa1'

443693

Institutional Source

Beutler Lab

Gene Symbol

Tespa1

Ensembl Gene

ENSMUSG00000034833

Gene Name

thymocyte expressed, positive selection associated 1

Synonyms

A430001F24Rik, Itprid3, 5830405N20Rik

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5691 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

130158696-130199338 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 130190638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152009 (fasta)

Gene Model

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

AlphaFold

Q3U132

Predicted Effect

probably null
Transcript: ENSMUST00000042586

SMART Domains

Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833

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 null
Transcript: ENSMUST00000217702

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Nrcam	T	C	12: 44,611,039 (GRCm39)	Y554H	probably damaging	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
Or8h9	A	T	2: 86,789,616 (GRCm39)	F62Y	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Phpt1	T	C	2: 25,463,707 (GRCm39)	Y96C	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Setd3	A	T	12: 108,126,544 (GRCm39)	M98K	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	Het

Other mutations in Tespa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tespa1	APN	10	130,191,353 (GRCm39)	missense	probably damaging	1.00
R0081:Tespa1	UTSW	10	130,196,719 (GRCm39)	missense	probably damaging	1.00
R0544:Tespa1	UTSW	10	130,196,680 (GRCm39)	missense	probably damaging	1.00
R1381:Tespa1	UTSW	10	130,196,560 (GRCm39)	missense	probably benign	0.45
R1781:Tespa1	UTSW	10	130,184,119 (GRCm39)	missense	probably benign	0.37
R1912:Tespa1	UTSW	10	130,190,592 (GRCm39)	missense	probably benign	0.37
R1927:Tespa1	UTSW	10	130,184,108 (GRCm39)	missense	probably benign	0.01
R2428:Tespa1	UTSW	10	130,197,944 (GRCm39)	missense	probably damaging	0.99
R3907:Tespa1	UTSW	10	130,192,666 (GRCm39)	splice site	probably benign
R4439:Tespa1	UTSW	10	130,197,826 (GRCm39)	missense	probably damaging	1.00
R4440:Tespa1	UTSW	10	130,197,826 (GRCm39)	missense	probably damaging	1.00
R4441:Tespa1	UTSW	10	130,197,826 (GRCm39)	missense	probably damaging	1.00
R4836:Tespa1	UTSW	10	130,198,028 (GRCm39)	missense	probably benign	0.00
R5045:Tespa1	UTSW	10	130,197,904 (GRCm39)	nonsense	probably null
R5566:Tespa1	UTSW	10	130,191,356 (GRCm39)	nonsense	probably null
R5670:Tespa1	UTSW	10	130,190,624 (GRCm39)	missense	probably damaging	0.96
R6173:Tespa1	UTSW	10	130,183,172 (GRCm39)	missense	probably benign	0.08
R7325:Tespa1	UTSW	10	130,197,910 (GRCm39)	missense	probably damaging	1.00
R7455:Tespa1	UTSW	10	130,196,559 (GRCm39)	missense	probably benign	0.00
R7577:Tespa1	UTSW	10	130,190,624 (GRCm39)	missense	probably damaging	0.96
R7783:Tespa1	UTSW	10	130,192,752 (GRCm39)	missense	probably damaging	1.00
R8048:Tespa1	UTSW	10	130,183,208 (GRCm39)	missense	probably damaging	1.00
R8719:Tespa1	UTSW	10	130,184,108 (GRCm39)	missense	probably benign	0.01
R8768:Tespa1	UTSW	10	130,198,027 (GRCm39)	missense	probably benign	0.19
R8885:Tespa1	UTSW	10	130,198,316 (GRCm39)	missense	probably benign	0.03
R9393:Tespa1	UTSW	10	130,183,066 (GRCm39)	missense	probably damaging	1.00
R9695:Tespa1	UTSW	10	130,198,285 (GRCm39)	missense	probably benign	0.02
Z1176:Tespa1	UTSW	10	130,197,764 (GRCm39)	missense	probably damaging	0.99
Z1177:Tespa1	UTSW	10	130,198,299 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTCAATTAACCACAGCCTAATTGTCTC -3'
(R):5'- GCTAAAGACACTCATTTTCAAGCG -3'

Sequencing Primer
(F):5'- AGCCTAATTGTCTCCAATATAAAAGC -3'
(R):5'- GAGAGTGTGAGAGCACATT -3'

Posted On

2016-11-09