Mutagenetix > Incidental Mutation

Incidental Mutation 'R1486:Tor4a'

163444

Institutional Source

Beutler Lab

Gene Symbol

Tor4a

Ensembl Gene

ENSMUSG00000059555

Gene Name

torsin family 4, member A

Synonyms

A830007P12Rik

MMRRC Submission

039539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R1486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25082978-25086898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25084691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 404 (I404N)

Ref Sequence

ENSEMBL: ENSMUSP00000080548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081869] [ENSMUST00000137920] [ENSMUST00000142857]

AlphaFold

Q8BH02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081869
AA Change: I404N

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: I404N

Domain	Start	End	E-Value	Type
low complexity region	21	40	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
low complexity region	81	93	N/A	INTRINSIC
AAA	181	317	3.74e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137920

Predicted Effect

probably benign
Transcript: ENSMUST00000142857

SMART Domains

Protein: ENSMUSP00000142048
Gene: ENSMUSG00000059555

Domain	Start	End	E-Value	Type
Pfam:Torsin	1	86	4.2e-9	PFAM
Pfam:AAA_22	12	112	6.7e-8	PFAM
Pfam:AAA_17	18	111	2.4e-7	PFAM
Pfam:AAA	19	110	3.1e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	A	G	4: 108,705,143 (GRCm39)	E19G	probably benign	Het
A730018C14Rik	T	C	12: 112,382,129 (GRCm39)		noncoding transcript	Het
Acrbp	T	A	6: 125,027,585 (GRCm39)	Y78N	probably damaging	Het
Adamtsl4	T	C	3: 95,589,166 (GRCm39)	S422G	probably benign	Het
Apba2	T	C	7: 64,386,696 (GRCm39)	V429A	probably damaging	Het
Atf6	A	G	1: 170,622,260 (GRCm39)	C454R	probably damaging	Het
Bhlhe40	T	C	6: 108,641,890 (GRCm39)	I278T	probably damaging	Het
Birc6	G	T	17: 74,946,815 (GRCm39)	V2845L	probably damaging	Het
Card11	T	C	5: 140,862,274 (GRCm39)	I1008V	probably benign	Het
Catsperg1	C	A	7: 28,884,920 (GRCm39)	K900N	probably damaging	Het
Cep20	A	G	16: 14,118,004 (GRCm39)	V172A	probably benign	Het
Chek2	T	G	5: 110,989,093 (GRCm39)		probably benign	Het
Dnaaf9	A	G	2: 130,579,338 (GRCm39)	L633P	probably damaging	Het
Dnah9	A	T	11: 65,725,098 (GRCm39)	S4352T	probably damaging	Het
Eif3c	C	T	7: 126,163,893 (GRCm39)	R50Q	probably damaging	Het
Eml6	A	C	11: 29,755,114 (GRCm39)	I887S	possibly damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Grm4	A	G	17: 27,653,691 (GRCm39)	L706P	probably damaging	Het
Irak3	T	C	10: 119,978,966 (GRCm39)	D495G	probably damaging	Het
Itga9	T	G	9: 118,455,518 (GRCm39)	V64G	probably damaging	Het
Iws1	T	C	18: 32,230,309 (GRCm39)	I759T	probably damaging	Het
Kdm3b	T	A	18: 34,967,357 (GRCm39)	F1721I	probably damaging	Het
Lrrc8c	T	A	5: 105,755,395 (GRCm39)	V390E	probably damaging	Het
Mki67	G	A	7: 135,301,449 (GRCm39)	T1195I	probably benign	Het
Mphosph8	C	T	14: 56,926,496 (GRCm39)	T646I	probably damaging	Het
Ncdn	A	T	4: 126,642,391 (GRCm39)	V422D	probably damaging	Het
Nrg1	T	C	8: 32,308,372 (GRCm39)	E548G	probably damaging	Het
Nt5el	T	C	13: 105,246,291 (GRCm39)	V284A	probably benign	Het
Nup37	T	C	10: 87,984,116 (GRCm39)	Y11H	probably damaging	Het
Or1ad1	G	A	11: 50,875,608 (GRCm39)	V27I	probably benign	Het
Or51f1e	A	T	7: 102,747,637 (GRCm39)	I230F	probably damaging	Het
Or52s19	T	A	7: 103,008,201 (GRCm39)	M67L	possibly damaging	Het
Or8j3c	T	A	2: 86,253,825 (GRCm39)	H65L	probably damaging	Het
Pcgf1	T	G	6: 83,056,107 (GRCm39)	S70R	probably damaging	Het
Potefam1	T	G	2: 111,030,703 (GRCm39)	Q402P	possibly damaging	Het
Prps1l3	C	T	12: 57,285,573 (GRCm39)	A121V	probably benign	Het
Rasal1	T	C	5: 120,792,917 (GRCm39)	Y57H	probably damaging	Het
Rbm12b2	A	G	4: 12,094,841 (GRCm39)	R567G	probably benign	Het
Rep15	T	A	6: 146,934,577 (GRCm39)	F139I	probably damaging	Het
Ros1	T	C	10: 52,048,954 (GRCm39)	Y92C	probably damaging	Het
Sin3b	A	G	8: 73,477,141 (GRCm39)	T803A	probably benign	Het
Skint11	G	A	4: 114,052,015 (GRCm39)		probably null	Het
Sobp	T	G	10: 42,898,518 (GRCm39)	S356R	probably benign	Het
Spats2l	T	C	1: 57,939,970 (GRCm39)	I228T	probably damaging	Het
Sqor	G	A	2: 122,649,565 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,500,415 (GRCm39)	D715G	probably benign	Het
Tln2	C	A	9: 67,219,121 (GRCm39)	G275W	probably damaging	Het
Tmc5	C	T	7: 118,272,655 (GRCm39)	P942S	probably benign	Het
Ttc3	G	A	16: 94,248,988 (GRCm39)	R1162Q	probably damaging	Het
Zfp451	T	C	1: 33,816,808 (GRCm39)	K164E	probably damaging	Het

Other mutations in Tor4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Tor4a	APN	2	25,084,810 (GRCm39)	missense	probably benign	0.18
IGL02813:Tor4a	APN	2	25,084,761 (GRCm39)	nonsense	probably null
R1916:Tor4a	UTSW	2	25,085,414 (GRCm39)	missense	possibly damaging	0.83
R2958:Tor4a	UTSW	2	25,084,980 (GRCm39)	missense	possibly damaging	0.93
R5237:Tor4a	UTSW	2	25,084,976 (GRCm39)	missense	probably damaging	0.97
R5356:Tor4a	UTSW	2	25,085,918 (GRCm39)	splice site	probably null
R5694:Tor4a	UTSW	2	25,084,932 (GRCm39)	missense	probably benign
R5874:Tor4a	UTSW	2	25,084,847 (GRCm39)	missense	probably damaging	1.00
R6314:Tor4a	UTSW	2	25,084,794 (GRCm39)	missense	possibly damaging	0.86
R6407:Tor4a	UTSW	2	25,084,952 (GRCm39)	missense	probably benign
R7056:Tor4a	UTSW	2	25,084,853 (GRCm39)	missense	probably benign
R7498:Tor4a	UTSW	2	25,085,804 (GRCm39)	missense	probably benign	0.22
R7590:Tor4a	UTSW	2	25,085,810 (GRCm39)	missense	possibly damaging	0.85
R8866:Tor4a	UTSW	2	25,084,965 (GRCm39)	missense	probably benign	0.00
R8936:Tor4a	UTSW	2	25,085,202 (GRCm39)	missense	probably damaging	0.99
R9206:Tor4a	UTSW	2	25,084,975 (GRCm39)	missense	probably damaging	0.97
R9242:Tor4a	UTSW	2	25,085,537 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTCAGAGCTAAGCCACTGCATC -3'
(R):5'- ATCTCCAGCCCAGGAGTTACTCAC -3'

Sequencing Primer
(F):5'- GCCACTGCATCAGCCTC -3'
(R):5'- GAGTTACTCACCAGTCTTCGAGAG -3'

Posted On

2014-03-28