Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03368:Trak1'

420192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121367122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 7 (L7I)

Ref Sequence

ENSEMBL: ENSMUSP00000147805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000209211] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211301] [ENSMUST00000211439]

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: L7I

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

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: L7I

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	47	352	8.1e-139	PFAM
Pfam:Milton	411	580	5e-72	PFAM
low complexity region	882	897	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209211
AA Change: L7I

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209390

Predicted Effect

probably benign
Transcript: ENSMUST00000210636
AA Change: L7I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211149

Predicted Effect

probably benign
Transcript: ENSMUST00000211301

Predicted Effect

probably benign
Transcript: ENSMUST00000211439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,222,373	V1914A	probably benign	Het
A530053G22Rik	T	C	6: 60,403,545		noncoding transcript	Het
Abca5	A	G	11: 110,313,522		probably benign	Het
Agxt2	T	A	15: 10,388,170	C278*	probably null	Het
Ankar	A	G	1: 72,675,813	L384P	probably damaging	Het
Ankrd55	T	C	13: 112,318,556		probably benign	Het
Ap5m1	A	G	14: 49,081,136		probably benign	Het
Arhgap18	C	T	10: 26,772,693	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,919,386	V118I	possibly damaging	Het
Chst11	C	A	10: 83,092,146	P66T	probably benign	Het
Cited2	C	A	10: 17,724,196	P84Q	possibly damaging	Het
D430042O09Rik	T	C	7: 125,868,858		probably benign	Het
Dpy19l4	T	A	4: 11,290,253	I302F	possibly damaging	Het
Ece2	A	G	16: 20,644,158	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,531,824	D890G	possibly damaging	Het
Fam227b	A	T	2: 126,119,063	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,718	K139R	probably damaging	Het
Gle1	T	C	2: 29,943,793	C401R	probably damaging	Het
Gp2	A	T	7: 119,452,874	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,079,746		probably benign	Het
Hmcn1	T	C	1: 150,663,872	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,642,491	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,459,121		probably benign	Het
Kif26b	A	C	1: 178,916,208	S1290R	probably damaging	Het
Mical1	A	G	10: 41,479,629	I156M	probably damaging	Het
Nbas	C	T	12: 13,328,451	A613V	probably benign	Het
Nbea	C	T	3: 56,079,930	V380M	probably damaging	Het
Nutf2	T	C	8: 105,875,600	F14S	probably damaging	Het
Olfr1260	A	T	2: 89,977,789	I4L	probably benign	Het
Olfr582	T	A	7: 103,041,765	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,580,622	E236G	probably benign	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Ptcd2	T	A	13: 99,330,069		probably benign	Het
Pygl	T	C	12: 70,191,152	Q704R	probably benign	Het
Scaper	A	T	9: 55,656,027	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,889,269	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,207,262		probably null	Het
Slc22a8	G	T	19: 8,609,119		probably benign	Het
Slfn5	A	G	11: 82,956,385	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,275,676	T1451S	probably benign	Het
Srp54a	A	C	12: 55,091,266	E63A	probably null	Het
Stap1	T	A	5: 86,090,968	I165N	probably damaging	Het
Terf2	T	C	8: 107,070,549	E494G	probably damaging	Het
Twnk	T	C	19: 45,010,492	V557A	probably damaging	Het
U2af2	T	A	7: 5,067,264		probably benign	Het
Ube2j1	T	A	4: 33,038,317	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,316	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,570,300	T120A	probably benign	Het

Other mutations in Trak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Trak1	APN	9	121443736	critical splice donor site	probably null
IGL01335:Trak1	APN	9	121454316	missense	possibly damaging	0.58
IGL01777:Trak1	APN	9	121431560	splice site	probably null
IGL01804:Trak1	APN	9	121442685	splice site	probably benign
IGL01986:Trak1	APN	9	121472967	missense	probably benign	0.00
IGL02248:Trak1	APN	9	121446794	missense	probably damaging	1.00
IGL02276:Trak1	APN	9	121451668	missense	probably damaging	1.00
IGL02556:Trak1	APN	9	121448901	missense	probably damaging	1.00
PIT4468001:Trak1	UTSW	9	121453332	missense	probably benign	0.18
R0067:Trak1	UTSW	9	121472907	missense	probably damaging	1.00
R0276:Trak1	UTSW	9	121454338	missense	probably damaging	0.97
R0535:Trak1	UTSW	9	121443712	missense	probably null	1.00
R0629:Trak1	UTSW	9	121367167	missense	probably benign	0.37
R0671:Trak1	UTSW	9	121448955	critical splice donor site	probably null
R0883:Trak1	UTSW	9	121453285	missense	possibly damaging	0.90
R1160:Trak1	UTSW	9	121392007	missense	probably benign	0.01
R1162:Trak1	UTSW	9	121453341	missense	possibly damaging	0.93
R1168:Trak1	UTSW	9	121440679	missense	probably damaging	1.00
R1398:Trak1	UTSW	9	121454359	missense	probably damaging	1.00
R2118:Trak1	UTSW	9	121472997	makesense	probably null
R2119:Trak1	UTSW	9	121472997	makesense	probably null
R2120:Trak1	UTSW	9	121472997	makesense	probably null
R2137:Trak1	UTSW	9	121472962	missense	possibly damaging	0.83
R3162:Trak1	UTSW	9	121451734	splice site	probably benign
R3888:Trak1	UTSW	9	121442797	splice site	probably null
R3889:Trak1	UTSW	9	121445873	missense	probably null	0.40
R4031:Trak1	UTSW	9	121451670	missense	probably damaging	1.00
R4116:Trak1	UTSW	9	121448843	missense	probably damaging	1.00
R4406:Trak1	UTSW	9	121431536	missense	probably damaging	1.00
R4630:Trak1	UTSW	9	121454425	missense	probably benign	0.02
R4631:Trak1	UTSW	9	121454425	missense	probably benign	0.02
R4632:Trak1	UTSW	9	121454425	missense	probably benign	0.02
R4786:Trak1	UTSW	9	121472494	missense	probably benign	0.25
R5137:Trak1	UTSW	9	121367055	intron	probably benign
R5159:Trak1	UTSW	9	121460412	missense	probably damaging	0.99
R5467:Trak1	UTSW	9	121446798	missense	probably damaging	1.00
R5661:Trak1	UTSW	9	121443637	missense	possibly damaging	0.46
R5664:Trak1	UTSW	9	121472307	missense	possibly damaging	0.47
R5769:Trak1	UTSW	9	121448838	missense	probably damaging	1.00
R6041:Trak1	UTSW	9	121460412	missense	probably damaging	0.99
R6257:Trak1	UTSW	9	121446755	missense	probably damaging	1.00
R6257:Trak1	UTSW	9	121367224	missense	possibly damaging	0.92
R6354:Trak1	UTSW	9	121451726	missense	probably null	0.03
R6399:Trak1	UTSW	9	121453496	splice site	probably null
R6513:Trak1	UTSW	9	121443756	missense	probably benign
R6579:Trak1	UTSW	9	121443638	missense	probably benign	0.29
R6940:Trak1	UTSW	9	121443718	missense	possibly damaging	0.78
R7120:Trak1	UTSW	9	121460498	missense	probably benign
R7299:Trak1	UTSW	9	121451863	splice site	probably null
R7304:Trak1	UTSW	9	121416212	missense	probably benign
R7396:Trak1	UTSW	9	121448907	missense	possibly damaging	0.71
R7522:Trak1	UTSW	9	121442711	missense	probably damaging	0.99
R7657:Trak1	UTSW	9	121472586	missense	probably damaging	1.00
R7733:Trak1	UTSW	9	121367225	missense	possibly damaging	0.92
R7793:Trak1	UTSW	9	121416198	nonsense	probably null
R7999:Trak1	UTSW	9	121460425	missense	probably damaging	1.00
R8209:Trak1	UTSW	9	121451727	missense	probably benign
R8215:Trak1	UTSW	9	121469030	missense	probably damaging	1.00
R8226:Trak1	UTSW	9	121451727	missense	probably benign
R8261:Trak1	UTSW	9	121451667	missense	probably damaging	1.00
R8300:Trak1	UTSW	9	121460499	nonsense	probably null
R8914:Trak1	UTSW	9	121443781	missense	unknown
R9072:Trak1	UTSW	9	121460488	missense	probably damaging	1.00
R9073:Trak1	UTSW	9	121460488	missense	probably damaging	1.00
R9312:Trak1	UTSW	9	121451691	missense	probably benign	0.01
R9366:Trak1	UTSW	9	121472512	missense	probably damaging	1.00
R9663:Trak1	UTSW	9	121391858	missense	probably benign	0.18

Posted On

2016-08-02