Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02248:Trak1'

286283

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: 0.209) question?

Stock #

IGL02248

Quality Score

Status

Chromosome

Chromosomal Location

121126568-121303984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121275860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 281 (V281L)

Ref Sequence

ENSEMBL: ENSMUSP00000147624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000210351] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]

AlphaFold

Q6PD31

Predicted Effect

probably damaging
Transcript: ENSMUST00000045903
AA Change: V291L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: V291L

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

probably damaging
Transcript: ENSMUST00000210351
AA Change: V241L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000210636

Predicted Effect

probably damaging
Transcript: ENSMUST00000210798
AA Change: V188L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211187
AA Change: V281L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211301
AA Change: V188L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211439
AA Change: V188L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	A	T	4: 153,516,568 (GRCm39)	S258T	possibly damaging	Het
Ap1g1	A	G	8: 110,590,065 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,647,721 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,023,439 (GRCm39)		probably null	Het
Btnl9	T	C	11: 49,071,625 (GRCm39)	D66G	probably benign	Het
Casp1	T	A	9: 5,299,452 (GRCm39)	H60Q	probably benign	Het
Clec4n	T	G	6: 123,207,527 (GRCm39)	S30R	probably damaging	Het
Col22a1	A	G	15: 71,671,297 (GRCm39)	L1021P	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fbxw7	A	G	3: 84,810,940 (GRCm39)	N22D	possibly damaging	Het
Frrs1l	T	A	4: 56,968,272 (GRCm39)	N167Y	probably damaging	Het
Fsip2	T	A	2: 82,813,116 (GRCm39)	I3145K	possibly damaging	Het
Gcc1	G	T	6: 28,418,513 (GRCm39)	R607S	probably damaging	Het
Gm14443	A	T	2: 175,012,107 (GRCm39)	I113K	probably benign	Het
Ica1	T	C	6: 8,758,387 (GRCm39)		probably benign	Het
Igkv4-69	T	A	6: 69,261,305 (GRCm39)		probably benign	Het
Igkv9-120	G	T	6: 68,027,221 (GRCm39)	C45F	probably damaging	Het
Lrp2	T	C	2: 69,313,152 (GRCm39)	Y2483C	probably damaging	Het
Lrpprc	A	G	17: 85,078,895 (GRCm39)	L273S	probably damaging	Het
Myh9	A	T	15: 77,670,814 (GRCm39)	L476Q	probably damaging	Het
Nab2	T	C	10: 127,499,109 (GRCm39)	I390V	probably benign	Het
Notch4	A	T	17: 34,806,172 (GRCm39)	D1756V	probably damaging	Het
Nup54	T	C	5: 92,576,188 (GRCm39)		probably null	Het
Or14c41	T	A	7: 86,235,312 (GRCm39)	Y276*	probably null	Het
Or8k38	A	T	2: 86,488,061 (GRCm39)	V247E	probably damaging	Het
Reln	T	C	5: 22,115,990 (GRCm39)	Y3006C	probably damaging	Het
Rpe65	T	A	3: 159,330,342 (GRCm39)	L503Q	probably damaging	Het
Serinc5	A	G	13: 92,842,648 (GRCm39)	D366G	probably damaging	Het
Slain1	A	G	14: 103,923,213 (GRCm39)	D102G	probably damaging	Het
Smo	A	T	6: 29,757,291 (GRCm39)	I469F	possibly damaging	Het
Tomm70a	T	A	16: 56,958,465 (GRCm39)	S273T	probably benign	Het
Trib2	T	C	12: 15,843,967 (GRCm39)	N225S	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,703 (GRCm39)	K685N	probably damaging	Het
Zcchc4	T	A	5: 52,953,418 (GRCm39)	H142Q	probably damaging	Het
Zfp521	T	C	18: 13,977,303 (GRCm39)	I1037V	possibly damaging	Het

Other mutations in Trak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Trak1	APN	9	121,272,802 (GRCm39)	critical splice donor site	probably null
IGL01335:Trak1	APN	9	121,283,382 (GRCm39)	missense	possibly damaging	0.58
IGL01777:Trak1	APN	9	121,260,626 (GRCm39)	splice site	probably null
IGL01804:Trak1	APN	9	121,271,751 (GRCm39)	splice site	probably benign
IGL01986:Trak1	APN	9	121,302,033 (GRCm39)	missense	probably benign	0.00
IGL02276:Trak1	APN	9	121,280,734 (GRCm39)	missense	probably damaging	1.00
IGL02556:Trak1	APN	9	121,277,967 (GRCm39)	missense	probably damaging	1.00
IGL03368:Trak1	APN	9	121,196,188 (GRCm39)	missense	possibly damaging	0.66
PIT4468001:Trak1	UTSW	9	121,282,398 (GRCm39)	missense	probably benign	0.18
R0067:Trak1	UTSW	9	121,301,973 (GRCm39)	missense	probably damaging	1.00
R0276:Trak1	UTSW	9	121,283,404 (GRCm39)	missense	probably damaging	0.97
R0535:Trak1	UTSW	9	121,272,778 (GRCm39)	missense	probably null	1.00
R0629:Trak1	UTSW	9	121,196,233 (GRCm39)	missense	probably benign	0.37
R0671:Trak1	UTSW	9	121,278,021 (GRCm39)	critical splice donor site	probably null
R0883:Trak1	UTSW	9	121,282,351 (GRCm39)	missense	possibly damaging	0.90
R1160:Trak1	UTSW	9	121,221,073 (GRCm39)	missense	probably benign	0.01
R1162:Trak1	UTSW	9	121,282,407 (GRCm39)	missense	possibly damaging	0.93
R1168:Trak1	UTSW	9	121,269,745 (GRCm39)	missense	probably damaging	1.00
R1398:Trak1	UTSW	9	121,283,425 (GRCm39)	missense	probably damaging	1.00
R2118:Trak1	UTSW	9	121,302,063 (GRCm39)	makesense	probably null
R2119:Trak1	UTSW	9	121,302,063 (GRCm39)	makesense	probably null
R2120:Trak1	UTSW	9	121,302,063 (GRCm39)	makesense	probably null
R2137:Trak1	UTSW	9	121,302,028 (GRCm39)	missense	possibly damaging	0.83
R3162:Trak1	UTSW	9	121,280,800 (GRCm39)	splice site	probably benign
R3888:Trak1	UTSW	9	121,271,863 (GRCm39)	splice site	probably null
R3889:Trak1	UTSW	9	121,274,939 (GRCm39)	missense	probably null	0.40
R4031:Trak1	UTSW	9	121,280,736 (GRCm39)	missense	probably damaging	1.00
R4116:Trak1	UTSW	9	121,277,909 (GRCm39)	missense	probably damaging	1.00
R4406:Trak1	UTSW	9	121,260,602 (GRCm39)	missense	probably damaging	1.00
R4630:Trak1	UTSW	9	121,283,491 (GRCm39)	missense	probably benign	0.02
R4631:Trak1	UTSW	9	121,283,491 (GRCm39)	missense	probably benign	0.02
R4632:Trak1	UTSW	9	121,283,491 (GRCm39)	missense	probably benign	0.02
R4786:Trak1	UTSW	9	121,301,560 (GRCm39)	missense	probably benign	0.25
R5137:Trak1	UTSW	9	121,196,121 (GRCm39)	intron	probably benign
R5159:Trak1	UTSW	9	121,289,478 (GRCm39)	missense	probably damaging	0.99
R5467:Trak1	UTSW	9	121,275,864 (GRCm39)	missense	probably damaging	1.00
R5661:Trak1	UTSW	9	121,272,703 (GRCm39)	missense	possibly damaging	0.46
R5664:Trak1	UTSW	9	121,301,373 (GRCm39)	missense	possibly damaging	0.47
R5769:Trak1	UTSW	9	121,277,904 (GRCm39)	missense	probably damaging	1.00
R6041:Trak1	UTSW	9	121,289,478 (GRCm39)	missense	probably damaging	0.99
R6257:Trak1	UTSW	9	121,196,290 (GRCm39)	missense	possibly damaging	0.92
R6257:Trak1	UTSW	9	121,275,821 (GRCm39)	missense	probably damaging	1.00
R6354:Trak1	UTSW	9	121,280,792 (GRCm39)	missense	probably null	0.03
R6399:Trak1	UTSW	9	121,282,562 (GRCm39)	splice site	probably null
R6513:Trak1	UTSW	9	121,272,822 (GRCm39)	missense	probably benign
R6579:Trak1	UTSW	9	121,272,704 (GRCm39)	missense	probably benign	0.29
R6940:Trak1	UTSW	9	121,272,784 (GRCm39)	missense	possibly damaging	0.78
R7120:Trak1	UTSW	9	121,289,564 (GRCm39)	missense	probably benign
R7299:Trak1	UTSW	9	121,280,929 (GRCm39)	splice site	probably null
R7304:Trak1	UTSW	9	121,245,278 (GRCm39)	missense	probably benign
R7396:Trak1	UTSW	9	121,277,973 (GRCm39)	missense	possibly damaging	0.71
R7522:Trak1	UTSW	9	121,271,777 (GRCm39)	missense	probably damaging	0.99
R7657:Trak1	UTSW	9	121,301,652 (GRCm39)	missense	probably damaging	1.00
R7733:Trak1	UTSW	9	121,196,291 (GRCm39)	missense	possibly damaging	0.92
R7793:Trak1	UTSW	9	121,245,264 (GRCm39)	nonsense	probably null
R7999:Trak1	UTSW	9	121,289,491 (GRCm39)	missense	probably damaging	1.00
R8209:Trak1	UTSW	9	121,280,793 (GRCm39)	missense	probably benign
R8215:Trak1	UTSW	9	121,298,096 (GRCm39)	missense	probably damaging	1.00
R8226:Trak1	UTSW	9	121,280,793 (GRCm39)	missense	probably benign
R8261:Trak1	UTSW	9	121,280,733 (GRCm39)	missense	probably damaging	1.00
R8300:Trak1	UTSW	9	121,289,565 (GRCm39)	nonsense	probably null
R8914:Trak1	UTSW	9	121,272,847 (GRCm39)	missense	unknown
R9072:Trak1	UTSW	9	121,289,554 (GRCm39)	missense	probably damaging	1.00
R9073:Trak1	UTSW	9	121,289,554 (GRCm39)	missense	probably damaging	1.00
R9312:Trak1	UTSW	9	121,280,757 (GRCm39)	missense	probably benign	0.01
R9366:Trak1	UTSW	9	121,301,578 (GRCm39)	missense	probably damaging	1.00
R9663:Trak1	UTSW	9	121,220,924 (GRCm39)	missense	probably benign	0.18

Posted On

2015-04-16