Mutagenetix > Incidental Mutation

Incidental Mutation 'R6407:Tor4a'

514482

Institutional Source

Beutler Lab

Gene Symbol

Tor4a

Ensembl Gene

ENSMUSG00000059555

Gene Name

torsin family 4, member A

Synonyms

A830007P12Rik

MMRRC Submission

044552-MU

Accession Numbers

Essential gene?

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

Stock #

R6407 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25082978-25086898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25084952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 317 (L317P)

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: L317P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: L317P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,422,809 (GRCm39)	Y1963C	probably benign	Het
Bptf	T	A	11: 107,001,952 (GRCm39)	N387Y	probably damaging	Het
C1ql2	T	C	1: 120,269,340 (GRCm39)	L165P	probably damaging	Het
Col5a2	C	A	1: 45,415,938 (GRCm39)	C1403F	probably damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Htr3a	G	T	9: 48,812,355 (GRCm39)	Y250*	probably null	Het
Ighg2c	T	C	12: 113,252,271 (GRCm39)	K94E	unknown	Het
Ighg3	T	C	12: 113,323,770 (GRCm39)	N206S	unknown	Het
Il36rn	A	G	2: 24,171,365 (GRCm39)	Y151C	probably damaging	Het
Kif22	G	A	7: 126,632,375 (GRCm39)	R312C	probably damaging	Het
Lap3	T	A	5: 45,669,267 (GRCm39)	V472E	probably damaging	Het
Mast3	T	C	8: 71,234,772 (GRCm39)	T762A	probably benign	Het
Mfsd12	T	C	10: 81,198,067 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,529,273 (GRCm39)	K123R	probably benign	Het
Mup8	T	A	4: 60,220,394 (GRCm39)	T113S	possibly damaging	Het
Nhp2	T	C	11: 51,510,730 (GRCm39)	V29A	probably benign	Het
Or14a260	T	C	7: 85,985,277 (GRCm39)	E109G	possibly damaging	Het
Pex3	T	C	10: 13,422,112 (GRCm39)	R63G	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Rims2	T	C	15: 39,315,724 (GRCm39)	S617P	probably damaging	Het
Rnf223	A	T	4: 156,216,816 (GRCm39)	T64S	probably damaging	Het
Rrp12	C	T	19: 41,872,181 (GRCm39)	V432M	probably damaging	Het
Sag	T	C	1: 87,742,528 (GRCm39)	V100A	probably benign	Het
Slc17a7	C	T	7: 44,819,350 (GRCm39)	A167V	probably benign	Het
Slc38a6	T	C	12: 73,356,949 (GRCm39)	F115S	probably damaging	Het
Spata31h1	A	G	10: 82,129,645 (GRCm39)	S1122P	probably benign	Het
Spdye4a	T	C	5: 143,211,454 (GRCm39)	T37A	probably benign	Het
Sphk2	T	C	7: 45,362,024 (GRCm39)	T138A	possibly damaging	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Sult1a1	T	C	7: 126,272,356 (GRCm39)		probably null	Het
Tmem212	A	G	3: 27,938,988 (GRCm39)	V166A	probably benign	Het
Trim43c	A	T	9: 88,722,467 (GRCm39)	T38S	probably benign	Het
Tshz1	C	A	18: 84,034,091 (GRCm39)	V106F	possibly damaging	Het
Tut4	G	T	4: 108,415,979 (GRCm39)	E1648D	probably damaging	Het
Yap1	A	G	9: 7,962,373 (GRCm39)	M225T	possibly damaging	Het
Zfp74	T	C	7: 29,635,048 (GRCm39)	E220G	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
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
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'- CATGGTAGTAGCTGAGCTGC -3'
(R):5'- GATGAGGCTGAACTCTTGCCAC -3'

Sequencing Primer
(F):5'- TGCCAGATGTTCTGCCAG -3'
(R):5'- ACCTGCGCTGCTAGATGAG -3'

Posted On

2018-05-04