Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Tor4a'

698499

Institutional Source

Beutler Lab

Gene Symbol

Tor4a

Ensembl Gene

ENSMUSG00000059555

Gene Name

torsin family 4, member A

Synonyms

A830007P12Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25082978-25086898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25084975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 309 (N309K)

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 damaging
Transcript: ENSMUST00000081869
AA Change: N309K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: N309K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,820,330 (GRCm39)	D248G	probably benign	Het
Abcc5	C	A	16: 20,208,139 (GRCm39)	V605F	probably benign	Het
Als2	A	G	1: 59,224,406 (GRCm39)	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Apex1	T	G	14: 51,163,125 (GRCm39)	D69E	possibly damaging	Het
Atg13	A	T	2: 91,512,406 (GRCm39)	F288I	probably benign	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
Atoh1	A	G	6: 64,706,713 (GRCm39)	E136G	probably benign	Het
Ccr7	T	C	11: 99,039,895 (GRCm39)	N9S	probably benign	Het
Cdhr1	A	C	14: 36,802,505 (GRCm39)	W653G	probably damaging	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Crnn	A	C	3: 93,054,251 (GRCm39)	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dnah7a	G	T	1: 53,540,757 (GRCm39)	T2539N	probably benign	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fat4	G	C	3: 39,063,390 (GRCm39)	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,015,191 (GRCm39)	L964S	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm973	A	T	1: 59,591,585 (GRCm39)	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Iars2	A	T	1: 185,050,146 (GRCm39)	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,607,947 (GRCm39)	S545P	probably damaging	Het
Kif1a	G	T	1: 92,979,202 (GRCm39)	D928E	probably damaging	Het
Kif26a	C	T	12: 112,144,480 (GRCm39)	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,079,227 (GRCm39)		probably null	Het
Klhl31	T	A	9: 77,558,389 (GRCm39)	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,126,197 (GRCm39)	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,022,350 (GRCm39)	C924S	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,257,656 (GRCm39)	L425M	possibly damaging	Het
Nop9	T	A	14: 55,987,592 (GRCm39)		probably null	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,874,793 (GRCm39)	M1I	probably null	Het
Or4f61	A	G	2: 111,922,410 (GRCm39)	F212S	probably benign	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,447,163 (GRCm39)	Y469*	probably null	Het
Rbm33	A	G	5: 28,557,584 (GRCm39)	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Rcor3	A	T	1: 191,785,895 (GRCm39)	*448R	probably null	Het
Scn10a	T	C	9: 119,445,827 (GRCm39)	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,548,131 (GRCm39)	I1108F	probably damaging	Het
Scrn2	T	C	11: 96,922,962 (GRCm39)	I135T	probably damaging	Het
Sptan1	A	T	2: 29,920,724 (GRCm39)	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,825,442 (GRCm39)	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Tvp23b	T	C	11: 62,772,842 (GRCm39)	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,467,032 (GRCm39)	I156F	probably damaging	Het
Wnk4	T	C	11: 101,164,882 (GRCm39)	I737T	probably damaging	Het
Zfp329	A	T	7: 12,545,085 (GRCm39)	D146E	probably benign	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp804b	T	C	5: 6,822,154 (GRCm39)	N303S	probably benign	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
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
R9242:Tor4a	UTSW	2	25,085,537 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATGTTCTGCCAGTGCCTG -3'
(R):5'- AGGAGAAGACCCCTCTCTTG -3'

Sequencing Primer
(F):5'- TCTCTGAAGCAGTTGACCAC -3'
(R):5'- GGTCCTGGATGAGGCTGAACTC -3'

Posted On

2022-02-07