Mutagenetix > Incidental Mutation

Incidental Mutation 'R2943:Tor3a'

255812

Institutional Source

Beutler Lab

Gene Symbol

Tor3a

Ensembl Gene

ENSMUSG00000060519

Gene Name

torsin family 3, member A

Synonyms

Adir

Accession Numbers

Essential gene?

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

Stock #

R2943 (G1)

Quality Score

142

Status

Not validated

Chromosome

Chromosomal Location

156481187-156501909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156501665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 71 (P71S)

Ref Sequence

ENSEMBL: ENSMUSP00000140129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079625] [ENSMUST00000086153] [ENSMUST00000122242] [ENSMUST00000122424] [ENSMUST00000150557] [ENSMUST00000156861] [ENSMUST00000188964] [ENSMUST00000190607]

AlphaFold

Q9ER38

Predicted Effect

probably benign
Transcript: ENSMUST00000079625
AA Change: P71S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: P71S

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: ENSMUST00000086153

SMART Domains

Protein: ENSMUSP00000083322
Gene: ENSMUSG00000033557

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:Fam20C	188	399	3.1e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122242
AA Change: P71S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: P71S

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: ENSMUST00000122424

SMART Domains

Protein: ENSMUSP00000112534
Gene: ENSMUSG00000033557

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:DUF1193	187	402	2e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150557
AA Change: P71S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519
AA Change: P71S

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
AA Change: P71S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519
AA Change: P71S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188964
AA Change: P71S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: P71S

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: ENSMUST00000190607
AA Change: P71S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140129
Gene: ENSMUSG00000060519
AA Change: P71S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194858

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,267,342 (GRCm39)		probably null	Het
Aqp12	A	T	1: 92,934,387 (GRCm39)	D88V	probably damaging	Het
Armc5	A	C	7: 127,839,752 (GRCm39)	N357H	probably damaging	Het
Atad2b	C	A	12: 4,992,067 (GRCm39)	T222K	probably damaging	Het
Carmil2	C	T	8: 106,419,564 (GRCm39)	H815Y	probably benign	Het
Chrna9	T	C	5: 66,134,438 (GRCm39)	Y430H	probably damaging	Het
Eif1ad15	T	C	12: 88,288,004 (GRCm39)	D83G	probably benign	Het
Eps8	T	C	6: 137,499,870 (GRCm39)	D203G	probably damaging	Het
Galnt6	G	T	15: 100,612,160 (GRCm39)		probably null	Het
Gsdmc	C	T	15: 63,675,501 (GRCm39)	V105I	possibly damaging	Het
Kntc1	A	G	5: 123,935,847 (GRCm39)	D1509G	possibly damaging	Het
Lrp10	C	T	14: 54,707,302 (GRCm39)		probably benign	Het
Mcmbp	A	T	7: 128,325,697 (GRCm39)	L97H	probably damaging	Het
Mfsd2a	A	G	4: 122,842,382 (GRCm39)	L495P	possibly damaging	Het
Or52s19	A	G	7: 103,007,658 (GRCm39)	C248R	probably damaging	Het
Pank4	G	A	4: 155,055,931 (GRCm39)	V319I	probably benign	Het
Pde7a	T	C	3: 19,284,489 (GRCm39)	N365D	probably damaging	Het
Pot1b	A	T	17: 55,981,058 (GRCm39)	S319T	probably benign	Het
Rbm25	T	C	12: 83,707,415 (GRCm39)	I276T	probably damaging	Het
Reg1	T	A	6: 78,405,128 (GRCm39)	L117Q	possibly damaging	Het
Ripor3	T	C	2: 167,825,681 (GRCm39)	H759R	possibly damaging	Het
Rph3al	A	T	11: 75,725,714 (GRCm39)		probably null	Het
S1pr4	A	C	10: 81,334,706 (GRCm39)	L256R	probably damaging	Het
Sstr4	T	C	2: 148,238,085 (GRCm39)	V232A	probably damaging	Het
Zfp804a	C	A	2: 82,066,223 (GRCm39)	Q65K	probably damaging	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
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
R8833:Tor3a	UTSW	1	156,483,373 (GRCm39)	missense	probably benign
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'- CAGAGCAGCCAGACCTTTAG -3'
(R):5'- AGGATGGGTTGCTCAGTCAG -3'

Sequencing Primer
(F):5'- AGAGCAGCCAGACCTTTAGTTGTC -3'
(R):5'- TCAGTCAGCCTCTGCGAG -3'

Posted On

2014-12-29