Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Tor4a'

281397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tor4a

Ensembl Gene

ENSMUSG00000059555

Gene Name

torsin family 4, member A

Synonyms

A830007P12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

25082978-25086898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25084810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 364 (D364E)

Ref Sequence

ENSEMBL: ENSMUSP00000080548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059849] [ENSMUST00000081869] [ENSMUST00000137920] [ENSMUST00000142857]

AlphaFold

Q8BH02

Predicted Effect

probably benign
Transcript: ENSMUST00000059849

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465

Domain	Start	End	E-Value	Type
Pfam:COBRA1	107	578	3.5e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081869
AA Change: D364E

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: D364E

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

noncoding transcript
Transcript: ENSMUST00000128876

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	probably damaging	Het

Other mutations in Tor4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02813:Tor4a	APN	2	25,084,761 (GRCm39)	nonsense	probably null
R1486:Tor4a	UTSW	2	25,084,691 (GRCm39)	missense	possibly damaging	0.47
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

Posted On

2015-04-16