Incidental Mutation 'IGL01367:Twnk'
ID75984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Twnk
Ensembl Gene ENSMUSG00000025209
Gene Nametwinkle mtDNA helicase
Synonymstwinkle, Twinl, Peo1, D19Ertd626e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01367
Quality Score
Status
Chromosome19
Chromosomal Location45006558-45012762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45011651 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 602 (R602Q)
Ref Sequence ENSEMBL: ENSMUSP00000026227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026227] [ENSMUST00000039016] [ENSMUST00000179108]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026227
AA Change: R602Q

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209
AA Change: R602Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,454,843 V20A possibly damaging Het
Alk T C 17: 71,900,786 I985V probably damaging Het
Anapc2 A C 2: 25,274,782 R59S possibly damaging Het
Ankhd1 T A 18: 36,578,643 D165E probably benign Het
Asb8 A T 15: 98,136,173 V167D probably damaging Het
Atp5j A G 16: 84,828,472 M81T probably benign Het
Bcl7b A G 5: 135,180,096 T138A probably damaging Het
Cdh23 A G 10: 60,310,787 L2869P probably damaging Het
Chl1 T C 6: 103,729,225 S1174P probably benign Het
Clec2g T C 6: 128,948,736 I36T unknown Het
Denr A G 5: 123,908,119 D4G probably benign Het
Dnajc10 T C 2: 80,324,752 probably benign Het
Egf C T 3: 129,702,455 probably null Het
Galnt10 A C 11: 57,725,583 Y108S probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Grb10 G T 11: 11,945,599 Q242K probably damaging Het
Hspg2 A T 4: 137,538,489 Y1837F probably damaging Het
Ikzf1 G T 11: 11,748,358 A70S probably benign Het
Il17ra T C 6: 120,481,465 Y526H probably damaging Het
Il34 A T 8: 110,742,743 I186N possibly damaging Het
Iqca G A 1: 90,070,628 probably benign Het
Kntc1 A G 5: 123,758,483 Y136C probably damaging Het
Man2b2 A T 5: 36,814,337 Y257* probably null Het
Map3k19 A G 1: 127,824,351 F421S possibly damaging Het
Melk A G 4: 44,332,907 T288A possibly damaging Het
Mpp2 T C 11: 102,063,309 E187G probably damaging Het
Mtf2 A G 5: 108,104,457 T394A probably benign Het
Neil2 A G 14: 63,191,728 S39P probably damaging Het
Olfr1507 T A 14: 52,490,167 I266F probably benign Het
Pcdh7 A G 5: 58,129,224 E1214G possibly damaging Het
Pcdhb17 G T 18: 37,487,495 Q779H probably benign Het
Pik3c2b A G 1: 133,105,988 I1577V probably benign Het
Pkp3 C T 7: 141,084,076 P389S probably damaging Het
Ppp4r2 T A 6: 100,864,745 Y92* probably null Het
Rnf13 T C 3: 57,807,087 I189T probably benign Het
Serpinf2 T C 11: 75,438,045 D53G probably benign Het
Slc47a2 T A 11: 61,329,781 T184S probably benign Het
Sned1 T C 1: 93,283,214 I1008T probably benign Het
Sorcs3 A T 19: 48,796,375 E1079V probably damaging Het
Trappc8 G A 18: 20,866,119 S318L probably benign Het
Trappc9 A G 15: 72,590,153 S909P probably benign Het
Ttn G A 2: 76,730,139 T29306I probably damaging Het
Vmn2r15 A T 5: 109,293,209 I261K probably damaging Het
Vmn2r77 G A 7: 86,811,916 A817T probably damaging Het
Other mutations in Twnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Twnk APN 19 45007626 missense probably benign 0.03
IGL01736:Twnk APN 19 45010188 missense probably damaging 0.97
IGL02724:Twnk APN 19 45008118 missense probably damaging 0.99
IGL03368:Twnk APN 19 45010492 missense probably damaging 0.99
R0121:Twnk UTSW 19 45009265 unclassified probably benign
R0389:Twnk UTSW 19 45008139 missense possibly damaging 0.67
R0427:Twnk UTSW 19 45007587 missense probably benign 0.00
R0443:Twnk UTSW 19 45008139 missense possibly damaging 0.67
R0501:Twnk UTSW 19 45007746 missense probably damaging 1.00
R0791:Twnk UTSW 19 45010254 unclassified probably benign
R1193:Twnk UTSW 19 45007790 missense probably damaging 1.00
R1470:Twnk UTSW 19 45009381 missense probably damaging 1.00
R1470:Twnk UTSW 19 45009381 missense probably damaging 1.00
R1487:Twnk UTSW 19 45008376 critical splice donor site probably null
R1556:Twnk UTSW 19 45009411 missense possibly damaging 0.80
R3895:Twnk UTSW 19 45007451 missense probably damaging 0.98
R5652:Twnk UTSW 19 45007293 missense possibly damaging 0.85
R6373:Twnk UTSW 19 45009381 missense probably damaging 1.00
R6595:Twnk UTSW 19 45010492 missense probably damaging 0.99
R6880:Twnk UTSW 19 45007416 missense probably benign
Posted On2013-10-07