Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Tor3a'

423825

Institutional Source

Beutler Lab

Gene Symbol

Tor3a

Ensembl Gene

ENSMUSG00000060519

Gene Name

torsin family 3, member A

Synonyms

Adir

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

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

Stock #

R5352 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

156481187-156501909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 156501763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 38 (E38A)

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

possibly damaging
Transcript: ENSMUST00000079625
AA Change: E38A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: E38A

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

possibly damaging
Transcript: ENSMUST00000122242
AA Change: E38A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: E38A

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

possibly damaging
Transcript: ENSMUST00000150557
AA Change: E38A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519
AA Change: E38A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156861
AA Change: E38A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519
AA Change: E38A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188964
AA Change: E38A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: E38A

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 damaging
Transcript: ENSMUST00000190607
AA Change: E38A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140129
Gene: ENSMUSG00000060519
AA Change: E38A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194858

Meta Mutation Damage Score

0.2248

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,224,905 (GRCm39)	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Nup210	A	T	6: 91,046,298 (GRCm39)	V545E	probably damaging	Het
Ola1	T	C	2: 72,929,674 (GRCm39)	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Snx2	A	G	18: 53,330,997 (GRCm39)		probably null	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmem208	A	G	8: 106,055,063 (GRCm39)	D91G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	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
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'- ACGCAGTGCTTAAGAGTGAG -3'
(R):5'- CATTAGGATGGGTTGCTCAGTC -3'

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

Posted On

2016-08-04