Mutagenetix > Incidental Mutation

Incidental Mutation 'R0121:Twnk'

21065

Institutional Source

Beutler Lab

Gene Symbol

Twnk

Ensembl Gene

ENSMUSG00000025209

Gene Name

twinkle mtDNA helicase

Synonyms

Peo1, D19Ertd626e, twinkle, Twinl

MMRRC Submission

038406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0121 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

44994102-45001201 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 44997704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026227] [ENSMUST00000097715]

AlphaFold

Q8CIW5

Predicted Effect

probably benign
Transcript: ENSMUST00000026227

SMART Domains

Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209

Domain	Start	End	E-Value	Type
low complexity region	213	224	N/A	INTRINSIC
Blast:TOPRIM	260	331	8e-16	BLAST
Pfam:AAA_25	377	565	5.6e-25	PFAM
Pfam:DnaB_C	390	631	6.7e-17	PFAM
Pfam:KaiC	394	628	2.6e-11	PFAM
low complexity region	650	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097715

SMART Domains

Protein: ENSMUSP00000095322
Gene: ENSMUSG00000025208

Domain	Start	End	E-Value	Type
L51_S25_CI-B8	35	108	1.61e-23	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygous embryos display abnormal development. Embryos die around E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,298,945 (GRCm39)		probably null	Het
Adgra3	T	C	5: 50,183,128 (GRCm39)		probably benign	Het
Anxa7	A	T	14: 20,510,227 (GRCm39)	L386M	probably damaging	Het
Ap2b1	A	G	11: 83,212,793 (GRCm39)	M58V	possibly damaging	Het
Arfip2	A	G	7: 105,285,578 (GRCm39)	L224P	probably damaging	Het
Arhgap20	A	G	9: 51,750,251 (GRCm39)	N373S	possibly damaging	Het
Asph	T	C	4: 9,635,918 (GRCm39)	D73G	probably damaging	Het
Atp1a2	T	A	1: 172,116,909 (GRCm39)	E236V	probably damaging	Het
Atp2a1	A	G	7: 126,057,116 (GRCm39)	S170P	probably damaging	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
B4galnt3	C	T	6: 120,191,999 (GRCm39)	R578H	probably benign	Het
Ccdc178	C	A	18: 21,978,081 (GRCm39)		probably null	Het
Ccnh	T	A	13: 85,354,312 (GRCm39)	M252K	probably damaging	Het
Clec4b2	A	G	6: 123,181,131 (GRCm39)	D172G	probably benign	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Csf3r	A	G	4: 125,923,642 (GRCm39)	N51D	probably benign	Het
Cul7	C	T	17: 46,974,299 (GRCm39)	L1489F	probably damaging	Het
Cyp2b13	G	A	7: 25,786,010 (GRCm39)	C309Y	probably benign	Het
Dync2h1	A	T	9: 7,001,327 (GRCm39)		probably benign	Het
Edn1	A	G	13: 42,458,741 (GRCm39)	T135A	probably benign	Het
Ephb2	A	G	4: 136,498,368 (GRCm39)	I237T	probably damaging	Het
Fam111a	T	A	19: 12,561,444 (GRCm39)	F12L	probably benign	Het
Foxi2	C	A	7: 135,013,640 (GRCm39)	A290E	probably benign	Het
Gabra6	A	G	11: 42,205,798 (GRCm39)	S353P	probably benign	Het
Gm4847	T	C	1: 166,469,857 (GRCm39)	D72G	probably damaging	Het
Grhl3	A	G	4: 135,279,860 (GRCm39)	I398T	probably damaging	Het
Gtdc1	T	C	2: 44,455,550 (GRCm39)		probably benign	Het
Kel	A	C	6: 41,678,998 (GRCm39)		probably benign	Het
L3mbtl3	C	T	10: 26,189,768 (GRCm39)	D499N	unknown	Het
Lama1	T	A	17: 68,105,508 (GRCm39)		probably benign	Het
Mamdc2	T	A	19: 23,288,223 (GRCm39)	E605V	probably benign	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Nudt12	A	T	17: 59,314,634 (GRCm39)	S317T	possibly damaging	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4k35	A	T	2: 111,100,659 (GRCm39)	C18S	probably benign	Het
Or5w20	A	G	2: 87,727,434 (GRCm39)	K297R	possibly damaging	Het
Or8g23	T	A	9: 38,971,056 (GRCm39)	K302M	probably damaging	Het
Or8k38	A	G	2: 86,488,163 (GRCm39)	V213A	probably benign	Het
Pbld1	C	T	10: 62,907,282 (GRCm39)		probably benign	Het
Prl8a9	T	G	13: 27,744,589 (GRCm39)	N84T	probably benign	Het
Psph	T	A	5: 129,868,633 (GRCm39)		probably benign	Het
Sbf2	A	G	7: 110,088,426 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,023,952 (GRCm39)	D405G	probably benign	Het
Serpinb1a	T	A	13: 33,032,754 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,556,086 (GRCm39)	I287V	probably benign	Het
Sptbn2	T	C	19: 4,795,321 (GRCm39)	F1593S	probably damaging	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tdrd3	A	T	14: 87,776,915 (GRCm39)	Q727L	probably damaging	Het
Tecpr1	C	T	5: 144,147,017 (GRCm39)	E450K	probably benign	Het
Tenm3	G	A	8: 48,795,694 (GRCm39)	T532I	probably damaging	Het
Tg	A	T	15: 66,612,630 (GRCm39)	Q396L	probably benign	Het
Tmtc3	A	G	10: 100,294,770 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,898,871 (GRCm39)		probably null	Het
Ubn2	T	C	6: 38,429,793 (GRCm39)		probably benign	Het
Zfp944	T	A	17: 22,558,249 (GRCm39)	T333S	possibly damaging	Het

Other mutations in Twnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Twnk	APN	19	44,996,065 (GRCm39)	missense	probably benign	0.03
IGL01367:Twnk	APN	19	45,000,090 (GRCm39)	missense	possibly damaging	0.92
IGL01736:Twnk	APN	19	44,998,627 (GRCm39)	missense	probably damaging	0.97
IGL02724:Twnk	APN	19	44,996,557 (GRCm39)	missense	probably damaging	0.99
IGL03368:Twnk	APN	19	44,998,931 (GRCm39)	missense	probably damaging	0.99
R0389:Twnk	UTSW	19	44,996,578 (GRCm39)	missense	possibly damaging	0.67
R0427:Twnk	UTSW	19	44,996,026 (GRCm39)	missense	probably benign	0.00
R0443:Twnk	UTSW	19	44,996,578 (GRCm39)	missense	possibly damaging	0.67
R0501:Twnk	UTSW	19	44,996,185 (GRCm39)	missense	probably damaging	1.00
R0791:Twnk	UTSW	19	44,998,693 (GRCm39)	unclassified	probably benign
R1193:Twnk	UTSW	19	44,996,229 (GRCm39)	missense	probably damaging	1.00
R1470:Twnk	UTSW	19	44,997,820 (GRCm39)	missense	probably damaging	1.00
R1470:Twnk	UTSW	19	44,997,820 (GRCm39)	missense	probably damaging	1.00
R1487:Twnk	UTSW	19	44,996,815 (GRCm39)	critical splice donor site	probably null
R1556:Twnk	UTSW	19	44,997,850 (GRCm39)	missense	possibly damaging	0.80
R3895:Twnk	UTSW	19	44,995,890 (GRCm39)	missense	probably damaging	0.98
R5652:Twnk	UTSW	19	44,995,732 (GRCm39)	missense	possibly damaging	0.85
R6373:Twnk	UTSW	19	44,997,820 (GRCm39)	missense	probably damaging	1.00
R6595:Twnk	UTSW	19	44,998,931 (GRCm39)	missense	probably damaging	0.99
R6880:Twnk	UTSW	19	44,995,855 (GRCm39)	missense	probably benign
R7349:Twnk	UTSW	19	44,998,600 (GRCm39)	missense	possibly damaging	0.65
R7401:Twnk	UTSW	19	45,000,219 (GRCm39)	missense	probably benign	0.15
R7417:Twnk	UTSW	19	44,999,003 (GRCm39)	splice site	probably null
R7798:Twnk	UTSW	19	44,996,107 (GRCm39)	missense	probably benign	0.00
R7994:Twnk	UTSW	19	44,996,277 (GRCm39)	missense	probably benign	0.03
R8698:Twnk	UTSW	19	44,996,299 (GRCm39)	missense	probably benign
R8826:Twnk	UTSW	19	44,996,434 (GRCm39)	missense	probably benign
R8855:Twnk	UTSW	19	45,000,272 (GRCm39)	nonsense	probably null
R8866:Twnk	UTSW	19	45,000,272 (GRCm39)	nonsense	probably null
R8972:Twnk	UTSW	19	45,000,149 (GRCm39)	missense	probably damaging	1.00
R9683:Twnk	UTSW	19	44,998,622 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTCTCAACTTTGACTGGAATCTTGG -3'
(R):5'- AAAACGGTCTGCCCACTCTTCATAC -3'

Sequencing Primer
(F):5'- acaccagaagagagcatcag -3'
(R):5'- ATACTTGTCCAGTTGCTCTTCCAG -3'

Posted On

2013-04-11