Mutagenetix > Incidental Mutation

Incidental Mutation 'R8833:Tor3a'

673958

Institutional Source

Beutler Lab

Gene Symbol

Tor3a

Ensembl Gene

ENSMUSG00000060519

Gene Name

torsin family 3, member A

Synonyms

Adir

MMRRC Submission

068661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156481187-156501909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156483373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 350 (T350A)

Ref Sequence

ENSEMBL: ENSMUSP00000078572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079625] [ENSMUST00000122242] [ENSMUST00000150557] [ENSMUST00000156861] [ENSMUST00000188964]

AlphaFold

Q9ER38

Predicted Effect

probably benign
Transcript: ENSMUST00000079625
AA Change: T350A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: T350A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Torsin	93	222	1.1e-60	PFAM
low complexity region	226	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122242
AA Change: T350A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: T350A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Torsin	93	222	1.1e-60	PFAM
low complexity region	226	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150557

SMART Domains

Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Torsin	93	206	2.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156861

SMART Domains

Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188964
AA Change: T350A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: T350A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Torsin	93	222	1.1e-60	PFAM
low complexity region	226	246	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	A	13: 4,496,377 (GRCm39)	D132E	possibly damaging	Het
Armh4	C	T	14: 50,011,318 (GRCm39)	V130I	probably benign	Het
Atp10b	A	G	11: 43,112,986 (GRCm39)	E844G	probably damaging	Het
Bbx	T	A	16: 50,045,629 (GRCm39)	M311L	probably benign	Het
Bzw2	A	T	12: 36,169,069 (GRCm39)	M153K	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
Cdh4	A	G	2: 179,535,828 (GRCm39)	D793G	possibly damaging	Het
Ces4a	A	G	8: 105,858,614 (GRCm39)	I11V	probably benign	Het
Cpne9	T	C	6: 113,281,473 (GRCm39)	L518P	probably damaging	Het
Dip2c	T	A	13: 9,625,519 (GRCm39)		probably null	Het
Fam135b	T	C	15: 71,334,783 (GRCm39)	N804D	probably benign	Het
Frem3	G	A	8: 81,339,401 (GRCm39)	D565N	probably benign	Het
Fscb	T	A	12: 64,519,997 (GRCm39)	T490S	unknown	Het
Fuca1	A	G	4: 135,648,206 (GRCm39)	D31G	probably damaging	Het
Gbp8	G	T	5: 105,166,668 (GRCm39)	N220K	possibly damaging	Het
Gfra2	T	C	14: 71,163,337 (GRCm39)	F207L	probably damaging	Het
Grap2	A	G	15: 80,522,684 (GRCm39)	N70S	probably benign	Het
Ifna13	C	A	4: 88,562,157 (GRCm39)	E156*	probably null	Het
Jmjd1c	G	A	10: 67,054,162 (GRCm39)	R22H	probably benign	Het
Macf1	A	G	4: 123,365,134 (GRCm39)	V3209A	probably benign	Het
Muc5b	A	G	7: 141,412,105 (GRCm39)	T1684A	unknown	Het
Naip5	T	A	13: 100,359,442 (GRCm39)	E598V	probably damaging	Het
Niban1	T	A	1: 151,520,681 (GRCm39)	V125E	probably damaging	Het
Notch1	G	A	2: 26,371,615 (GRCm39)	T278I	probably damaging	Het
Or4d10c	A	G	19: 12,065,643 (GRCm39)	V171A	possibly damaging	Het
Or4k5	A	T	14: 50,385,823 (GRCm39)	C169*	probably null	Het
Or52z13	T	G	7: 103,247,444 (GRCm39)	F307C	possibly damaging	Het
Or5k14	A	T	16: 58,692,959 (GRCm39)	Y185N	probably damaging	Het
Orm1	A	T	4: 63,262,938 (GRCm39)	E35V	probably damaging	Het
Pak1	T	A	7: 97,503,839 (GRCm39)	I58N	possibly damaging	Het
Pard3b	A	G	1: 62,384,158 (GRCm39)	E841G	probably benign	Het
Pcdhb9	G	T	18: 37,534,468 (GRCm39)	R154I	probably benign	Het
Pdpr	G	A	8: 111,852,312 (GRCm39)	V560I	probably damaging	Het
Pkdcc	T	C	17: 83,531,355 (GRCm39)	F455L	probably damaging	Het
Potefam3c	A	T	8: 69,881,982 (GRCm39)	D331E	probably benign	Het
Pus7l	A	T	15: 94,438,143 (GRCm39)	F234Y	probably damaging	Het
Rab3gap2	T	A	1: 184,990,722 (GRCm39)	L632Q	probably damaging	Het
Rarb	T	A	14: 16,819,015 (GRCm38)		probably benign	Het
Ro60	T	A	1: 143,641,517 (GRCm39)	K315*	probably null	Het
Rom1	A	T	19: 8,905,471 (GRCm39)	H236Q	possibly damaging	Het
Secisbp2	T	C	13: 51,819,352 (GRCm39)	S311P	probably benign	Het
Slc26a1	T	C	5: 108,820,182 (GRCm39)	D355G	probably benign	Het
Slc28a3	C	T	13: 58,707,077 (GRCm39)	A574T	probably damaging	Het
Sox11	A	G	12: 27,392,313 (GRCm39)	V32A	possibly damaging	Het
Spata17	T	C	1: 186,915,436 (GRCm39)	Y107C	probably damaging	Het
Speer1a	C	A	5: 11,394,205 (GRCm39)	Y104*	probably null	Het
Stxbp5l	T	C	16: 37,024,814 (GRCm39)	T595A	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Tatdn2	T	G	6: 113,684,348 (GRCm39)	I674S	probably damaging	Het
Tex14	T	A	11: 87,383,878 (GRCm39)	S189R	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Ttr	T	G	18: 20,799,550 (GRCm39)	V36G	probably damaging	Het
Vmn1r129	A	T	7: 21,095,205 (GRCm39)	H4Q	probably null	Het
Vmn1r32	A	G	6: 66,530,623 (GRCm39)	M51T	possibly damaging	Het
Zfp141	T	C	7: 42,125,687 (GRCm39)	T262A	possibly damaging	Het
Zfp980	T	A	4: 145,427,596 (GRCm39)	N108K	probably benign	Het

Other mutations in Tor3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Tor3a	APN	1	156,501,776 (GRCm39)	missense	probably benign	0.33
IGL03268:Tor3a	APN	1	156,497,020 (GRCm39)	missense	probably damaging	1.00
R2943:Tor3a	UTSW	1	156,501,665 (GRCm39)	missense	probably benign	0.38
R3858:Tor3a	UTSW	1	156,497,124 (GRCm39)	missense	probably damaging	1.00
R4996:Tor3a	UTSW	1	156,483,342 (GRCm39)	missense	probably damaging	1.00
R5204:Tor3a	UTSW	1	156,483,270 (GRCm39)	missense	probably damaging	1.00
R5352:Tor3a	UTSW	1	156,501,763 (GRCm39)	missense	probably damaging	1.00
R5476:Tor3a	UTSW	1	156,501,137 (GRCm39)	missense	possibly damaging	0.94
R5653:Tor3a	UTSW	1	156,484,080 (GRCm39)	missense	probably damaging	1.00
R5931:Tor3a	UTSW	1	156,484,057 (GRCm39)	missense	probably benign	0.03
R6170:Tor3a	UTSW	1	156,484,143 (GRCm39)	missense	possibly damaging	0.89
R7674:Tor3a	UTSW	1	156,483,478 (GRCm39)	missense	possibly damaging	0.77
R9509:Tor3a	UTSW	1	156,483,499 (GRCm39)	missense	possibly damaging	0.58
R9644:Tor3a	UTSW	1	156,501,126 (GRCm39)	missense	probably damaging	0.99
R9743:Tor3a	UTSW	1	156,501,103 (GRCm39)	missense	probably benign	0.40
Z1177:Tor3a	UTSW	1	156,501,800 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGTTAGGAACTGCCTCTTGC -3'
(R):5'- TCAGACACTATGTAACTCTGGGTC -3'

Sequencing Primer
(F):5'- CACACCAGCTGAAAGCAGTGATTG -3'
(R):5'- TCTTGGTTACAGACAGCAGC -3'

Posted On

2021-07-15