Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Tespa1'

586525

Institutional Source

Beutler Lab

Gene Symbol

Tespa1

Ensembl Gene

ENSMUSG00000034833

Gene Name

thymocyte expressed, positive selection associated 1

Synonyms

A430001F24Rik, Itprid3, 5830405N20Rik

MMRRC Submission

045662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130158696-130199338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130190624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 84 (S84P)

Ref Sequence

ENSEMBL: ENSMUSP00000152009 (fasta)

Gene Model

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

AlphaFold

Q3U132

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042586
AA Change: S84P

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: S84P

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 damaging
Transcript: ENSMUST00000217702
AA Change: S84P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	T	10: 78,902,325 (GRCm39)	V664M	possibly damaging	Het
Abca4	A	G	3: 121,967,663 (GRCm39)	T2238A	probably damaging	Het
Adss2	G	A	1: 177,595,263 (GRCm39)	Q426*	probably null	Het
Afap1l2	T	C	19: 56,933,199 (GRCm39)	E71G	probably damaging	Het
Afg1l	T	C	10: 42,194,607 (GRCm39)	D395G	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Alms1	A	G	6: 85,592,302 (GRCm39)	T385A	probably benign	Het
Ank3	C	T	10: 69,828,402 (GRCm39)	T2357I		Het
Ankfn1	T	A	11: 89,394,797 (GRCm39)	S263C	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Azin1	C	T	15: 38,501,665 (GRCm39)	V29I	probably benign	Het
B3galt2	T	C	1: 143,523,042 (GRCm39)	Y393H	probably damaging	Het
Cnbd2	G	T	2: 156,170,296 (GRCm39)	R127L	possibly damaging	Het
Col6a5	A	T	9: 105,741,887 (GRCm39)	L2344*	probably null	Het
Csn3	T	C	5: 88,077,821 (GRCm39)	V109A	not run	Het
Cxcr2	C	G	1: 74,198,074 (GRCm39)	N189K	probably benign	Het
Dclre1a	A	G	19: 56,517,965 (GRCm39)	F1038S	probably damaging	Het
Ddx21	T	C	10: 62,426,449 (GRCm39)	Q468R	probably benign	Het
Dlx6	A	G	6: 6,863,423 (GRCm39)	D15G	probably damaging	Het
Dnajb14	T	C	3: 137,610,558 (GRCm39)	V262A	possibly damaging	Het
Dpp7	A	G	2: 25,245,603 (GRCm39)	V161A	probably benign	Het
Enkur	C	T	2: 21,209,913 (GRCm39)	S16N	probably benign	Het
Ensa	C	A	3: 95,535,956 (GRCm39)	H96Q	probably damaging	Het
Ero1b	T	G	13: 12,617,254 (GRCm39)	C393G	probably damaging	Het
Fbxo3	T	C	2: 103,881,543 (GRCm39)	F292L	possibly damaging	Het
Fcgbpl1	A	G	7: 27,853,848 (GRCm39)	D1604G	possibly damaging	Het
Fos	T	C	12: 85,521,871 (GRCm39)	S102P	probably benign	Het
Foxs1	C	T	2: 152,774,361 (GRCm39)	G231S	probably benign	Het
Furin	T	C	7: 80,046,734 (GRCm39)	D174G	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gm32687	T	A	10: 81,716,023 (GRCm39)	C472S	probably damaging	Het
Gmip	A	G	8: 70,267,085 (GRCm39)	E327G	probably benign	Het
Gpld1	A	G	13: 25,146,388 (GRCm39)	T211A	probably benign	Het
Grin2d	T	C	7: 45,511,803 (GRCm39)	H214R	probably benign	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hnrnpd	A	T	5: 100,115,113 (GRCm39)	F142I	probably damaging	Het
Krt32	T	A	11: 99,972,047 (GRCm39)	T434S	probably benign	Het
Lct	T	G	1: 128,228,469 (GRCm39)	D1008A	probably damaging	Het
Man1c1	A	G	4: 134,291,814 (GRCm39)		probably null	Het
Marchf7	T	A	2: 60,060,048 (GRCm39)	C58*	probably null	Het
Mccc1	C	T	3: 36,029,943 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,385,187 (GRCm39)	D484V	probably damaging	Het
Myh10	T	A	11: 68,636,806 (GRCm39)	C227S	unknown	Het
Niban1	T	A	1: 151,594,063 (GRCm39)	V916E	probably benign	Het
Nin	T	C	12: 70,109,480 (GRCm39)	E153G		Het
Nr1h2	G	A	7: 44,200,216 (GRCm39)	T313M	probably damaging	Het
Or4g7	T	A	2: 111,309,477 (GRCm39)	I116K	probably damaging	Het
Or5k15	G	T	16: 58,709,629 (GRCm39)	A318D	probably benign	Het
Otog	C	A	7: 45,937,279 (GRCm39)	H1663N	possibly damaging	Het
Piezo2	G	T	18: 63,186,081 (GRCm39)	T1696K	probably benign	Het
Plcd1	A	T	9: 118,901,322 (GRCm39)	N703K	possibly damaging	Het
Plekhg4	T	A	8: 106,102,031 (GRCm39)	C7S	probably benign	Het
Pnma2	A	G	14: 67,153,428 (GRCm39)		probably benign	Het
Potegl	A	G	2: 23,097,837 (GRCm39)	Y5C	probably benign	Het
Prag1	A	G	8: 36,614,096 (GRCm39)	Y1216C	probably damaging	Het
Prima1	T	C	12: 103,163,566 (GRCm39)	Y135C	probably damaging	Het
Prkce	C	A	17: 86,800,721 (GRCm39)	S379*	probably null	Het
Prmt7	A	G	8: 106,968,835 (GRCm39)	N383S	probably damaging	Het
Ptafr	A	G	4: 132,307,063 (GRCm39)	Y151C	probably damaging	Het
Ptprn2	T	C	12: 116,449,486 (GRCm39)	M1T	probably null	Het
Rad23a	A	T	8: 85,565,108 (GRCm39)	S136T	probably benign	Het
Rnf123	A	T	9: 107,947,818 (GRCm39)	Y137N	probably damaging	Het
Sfxn4	A	C	19: 60,842,324 (GRCm39)	I126S	probably benign	Het
Slc4a4	A	G	5: 89,373,726 (GRCm39)	H935R	probably damaging	Het
Slitrk3	T	G	3: 72,958,448 (GRCm39)	N108T	probably damaging	Het
Spred1	T	A	2: 117,007,806 (GRCm39)	H237Q	probably benign	Het
Syne1	T	A	10: 5,074,820 (GRCm39)	K1168N	probably damaging	Het
Syt14	T	C	1: 192,665,885 (GRCm39)	K340E	unknown	Het
Tmem268	G	T	4: 63,480,681 (GRCm39)		probably benign	Het
Tmem52b	T	A	6: 129,493,040 (GRCm39)	Y48*	probably null	Het
Tox2	C	A	2: 163,157,822 (GRCm39)	Y295*	probably null	Het
Trp53bp1	T	G	2: 121,067,119 (GRCm39)	T536P	possibly damaging	Het
Tysnd1	T	C	10: 61,531,665 (GRCm39)	C106R	probably benign	Het
Unc5d	T	C	8: 29,381,449 (GRCm39)	I63V	probably damaging	Het
Vmn1r235	A	G	17: 21,481,881 (GRCm39)	N69D	possibly damaging	Het
Vps11	A	T	9: 44,260,258 (GRCm39)	M868K	probably benign	Het
Wipf3	A	G	6: 54,462,509 (GRCm39)	T240A	possibly damaging	Het
Xirp2	G	A	2: 67,345,309 (GRCm39)	E2517K	possibly damaging	Het
Ylpm1	T	A	12: 85,043,994 (GRCm39)	L244Q	unknown	Het
Zdhhc18	G	T	4: 133,342,520 (GRCm39)	S198*	probably null	Het
Zfp760	T	A	17: 21,941,242 (GRCm39)	L139*	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
R5691:Tespa1	UTSW	10	130,190,638 (GRCm39)	critical splice donor site	probably null
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
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'- ATTAACCACAGCCTAATTGTCTCC -3'
(R):5'- GAAGCTAAAGACACTCATTTTCAAGCG -3'

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

Posted On

2019-10-24