Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Tesc'

534153

Institutional Source

Beutler Lab

Gene Symbol

Tesc

Ensembl Gene

ENSMUSG00000029359

Gene Name

tescalcin

Synonyms

TE-1, 2410011K10Rik, 1010001A17Rik

MMRRC Submission

045019-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118165808-118199943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118194483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

Ref Sequence

ENSEMBL: ENSMUSP00000138436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031304] [ENSMUST00000124648]

AlphaFold

Q9JKL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031304
AA Change: T131A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031304
Gene: ENSMUSG00000029359
AA Change: T131A

Domain	Start	End	E-Value	Type
PDB:2CT9\|B	1	212	2e-29	PDB
SCOP:d1auib_	13	203	2e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124648
AA Change: T131A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138436
Gene: ENSMUSG00000029359
AA Change: T131A

Domain	Start	End	E-Value	Type
PDB:2CT9\|B	9	138	3e-19	PDB
SCOP:d1dgua_	9	138	1e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for deletions in this gene display normal morphology and numbers of megakaryocytes. Platelet numbers are also normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,107,431 (GRCm39)	N728S	probably benign	Het
Acaca	T	C	11: 84,086,362 (GRCm39)	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,325,733 (GRCm39)	V120A	probably benign	Het
Ap4b1	G	A	3: 103,720,224 (GRCm39)		probably null	Het
Apol7e	T	A	15: 77,602,491 (GRCm39)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,563,167 (GRCm39)	L259Q	probably damaging	Het
Cdhr17	A	G	5: 17,013,292 (GRCm39)	I219V	unknown	Het
Clca3a2	T	C	3: 144,523,815 (GRCm39)	T57A	possibly damaging	Het
Copb1	T	C	7: 113,825,954 (GRCm39)	T677A	probably benign	Het
Crhr2	T	C	6: 55,094,725 (GRCm39)		probably benign	Het
Cyp11a1	A	G	9: 57,932,370 (GRCm39)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,008,247 (GRCm39)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,011,408 (GRCm39)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,415,767 (GRCm39)	Y646*	probably null	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Elmo3	A	T	8: 106,033,378 (GRCm39)	I115F	probably damaging	Het
Elmod1	T	C	9: 53,826,883 (GRCm39)	T268A	probably benign	Het
F10	T	C	8: 13,096,165 (GRCm39)		probably null	Het
Fmo4	C	T	1: 162,631,338 (GRCm39)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,831,285 (GRCm39)	H509Q	probably benign	Het
Hyal6	A	G	6: 24,734,371 (GRCm39)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,703,584 (GRCm39)	Y107C	probably damaging	Het
Jag1	A	G	2: 136,958,095 (GRCm39)		probably null	Het
Leng8	T	A	7: 4,148,319 (GRCm39)	V697E	probably damaging	Het
Mdga1	T	C	17: 30,189,000 (GRCm39)	N21S	unknown	Het
Midn	T	A	10: 79,989,961 (GRCm39)	C126*	probably null	Het
Mlh3	A	T	12: 85,292,598 (GRCm39)	V1303E	probably benign	Het
Myh4	T	C	11: 67,137,357 (GRCm39)	L526P	probably damaging	Het
Or10ag55-ps1	G	A	2: 87,114,672 (GRCm39)	E13K	probably benign	Het
Or5b3	T	A	19: 13,388,452 (GRCm39)	V173E	probably benign	Het
Pde6b	C	T	5: 108,578,458 (GRCm39)	R799*	probably null	Het
Pde9a	A	G	17: 31,685,414 (GRCm39)	D382G	probably benign	Het
Pdrg1	A	C	2: 152,852,176 (GRCm39)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm39)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,980 (GRCm39)	E645*	probably null	Het
Prrc2b	A	G	2: 32,112,300 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,153,277 (GRCm39)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,810,241 (GRCm39)	V314F	probably damaging	Het
Rps9	C	A	7: 3,708,775 (GRCm39)	D84E	probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,915,397 (GRCm39)	F270L	probably benign	Het
Slc24a5	G	A	2: 124,910,778 (GRCm39)	V70I	probably benign	Het
Slfn14	C	A	11: 83,172,644 (GRCm39)		probably null	Het
Smcr8	G	T	11: 60,669,688 (GRCm39)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,503,148 (GRCm39)	V33D	probably damaging	Het
Tnfaip8l3	G	T	9: 53,934,783 (GRCm39)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,567 (GRCm39)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,800,071 (GRCm39)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,182,327 (GRCm39)	Y457*	probably null	Het
Wee1	T	C	7: 109,723,870 (GRCm39)		probably null	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zfp541	A	G	7: 15,812,907 (GRCm39)	E520G	probably damaging	Het
Zfp579	G	T	7: 4,997,425 (GRCm39)	A162D	probably benign	Het
Zfp811	A	G	17: 33,016,762 (GRCm39)	F425S	probably damaging	Het

Other mutations in Tesc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Tesc	APN	5	118,194,504 (GRCm39)	critical splice donor site	probably null
IGL02215:Tesc	APN	5	118,199,683 (GRCm39)	missense	probably damaging	1.00
R0142:Tesc	UTSW	5	118,194,635 (GRCm39)	missense	possibly damaging	0.55
R0395:Tesc	UTSW	5	118,191,647 (GRCm39)	critical splice acceptor site	probably null
R1640:Tesc	UTSW	5	118,192,914 (GRCm39)	missense	probably benign	0.00
R1809:Tesc	UTSW	5	118,199,667 (GRCm39)	missense	probably benign	0.01
R1830:Tesc	UTSW	5	118,184,394 (GRCm39)	missense	probably damaging	1.00
R2051:Tesc	UTSW	5	118,184,394 (GRCm39)	missense	probably damaging	1.00
R4910:Tesc	UTSW	5	118,194,531 (GRCm39)	intron	probably benign
R5338:Tesc	UTSW	5	118,197,523 (GRCm39)	missense	probably damaging	1.00
R7057:Tesc	UTSW	5	118,193,025 (GRCm39)	missense	probably damaging	1.00
R7486:Tesc	UTSW	5	118,184,382 (GRCm39)	missense	probably benign	0.34
R7531:Tesc	UTSW	5	118,197,523 (GRCm39)	missense	probably damaging	1.00
R7651:Tesc	UTSW	5	118,194,666 (GRCm39)	missense	possibly damaging	0.91
R8304:Tesc	UTSW	5	118,194,495 (GRCm39)	missense	probably benign	0.01
R9006:Tesc	UTSW	5	118,184,378 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCAAGATCTGCATTTTGGGG -3'
(R):5'- AGCCGACTCCTTTTCAATGTGAG -3'

Sequencing Primer
(F):5'- GGCTGGCCTTGAACTCAGAAATTC -3'
(R):5'- GACTCCTTTTCAATGTGAGGGTTTCC -3'

Posted On

2018-09-12