Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Twnk'

675973

Institutional Source

Beutler Lab

Gene Symbol

Twnk

Ensembl Gene

ENSMUSG00000025209

Gene Name

twinkle mtDNA helicase

Synonyms

Peo1, D19Ertd626e, twinkle, Twinl

MMRRC Submission

068742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44994102-45001201 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 45000272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 663 (Q663*)

Ref Sequence

ENSEMBL: ENSMUSP00000026227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026227] [ENSMUST00000039016] [ENSMUST00000179108]

AlphaFold

Q8CIW5

Predicted Effect

probably null
Transcript: ENSMUST00000026227
AA Change: Q663*

SMART Domains

Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209
AA Change: Q663*

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: ENSMUST00000039016

SMART Domains

Protein: ENSMUSP00000045478
Gene: ENSMUSG00000035342

Domain	Start	End	E-Value	Type
low complexity region	99	105	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	267	321	N/A	INTRINSIC
low complexity region	375	407	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
Pfam:Fez1	441	639	4.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179108

SMART Domains

Protein: ENSMUSP00000137571
Gene: ENSMUSG00000035342

Domain	Start	End	E-Value	Type
low complexity region	99	105	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	267	321	N/A	INTRINSIC
low complexity region	375	407	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
Pfam:Fez1	441	639	4.2e-82	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Arhgap45	C	A	10: 79,853,750 (GRCm39)	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Dbr1	T	A	9: 99,460,497 (GRCm39)	L109*	probably null	Het
Dchs1	G	T	7: 105,404,597 (GRCm39)	N2648K	probably benign	Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dlgap1	A	T	17: 70,823,435 (GRCm39)	H140L	probably damaging	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Eloa	A	C	4: 135,737,538 (GRCm39)		probably null	Het
Epha7	A	G	4: 28,821,614 (GRCm39)	I260V	probably benign	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Fstl4	A	G	11: 52,963,233 (GRCm39)	E205G	possibly damaging	Het
Gm5592	A	T	7: 40,938,246 (GRCm39)	R509S	possibly damaging	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Hgs	A	G	11: 120,360,464 (GRCm39)	N54S	probably benign	Het
Hydin	G	A	8: 111,308,779 (GRCm39)	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Kctd4	A	G	14: 76,200,465 (GRCm39)	I145M	probably benign	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc10	T	A	10: 116,881,858 (GRCm39)	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Ndel1	A	G	11: 68,734,645 (GRCm39)		probably null	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,555,825 (GRCm39)	Y130C	probably damaging	Het
Or1e32	A	T	11: 73,705,237 (GRCm39)	S224T	probably damaging	Het
Or51a43	A	T	7: 103,718,119 (GRCm39)	S40T	probably damaging	Het
Otop2	A	G	11: 115,220,354 (GRCm39)	D398G	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,531,555 (GRCm39)	D810E	probably benign	Het
Ppl	T	A	16: 4,920,211 (GRCm39)	T395S	probably benign	Het
Ptprm	G	A	17: 67,116,630 (GRCm39)	A883V	probably benign	Het
Rapgef6	G	A	11: 54,443,700 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,938,693 (GRCm39)	Y526*	probably null	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Rxylt1	A	G	10: 121,924,953 (GRCm39)	Y250H	probably damaging	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Setd4	A	G	16: 93,386,961 (GRCm39)	F246L	probably damaging	Het
Shank2	A	G	7: 143,964,986 (GRCm39)	S865G	probably benign	Het
Skint6	T	C	4: 112,711,650 (GRCm39)	N956D	probably benign	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Tank	T	A	2: 61,409,005 (GRCm39)	S7R	probably benign	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Tor4a	T	C	2: 25,084,965 (GRCm39)	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trim29	T	C	9: 43,222,945 (GRCm39)	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Ttn	T	C	2: 76,592,675 (GRCm39)	E20819G	probably damaging	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Unc80	G	A	1: 66,629,388 (GRCm39)	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,327,628 (GRCm39)	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het
Zfp931	A	T	2: 177,710,178 (GRCm39)	C69*	probably null	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
R0121:Twnk	UTSW	19	44,997,704 (GRCm39)	unclassified	probably benign
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
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'- TCTGCAGGTGTCCAAGAATC -3'
(R):5'- AGATTCCCCAGTAGCTGCTC -3'

Sequencing Primer
(F):5'- TCCAAGAATCGCTTTGATGGAGAC -3'
(R):5'- AATTTTCACCATGGAGTCCAGC -3'

Posted On

2021-07-15