Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01777:Trak1'

154134

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: 0.227) question?

Stock #

IGL01777

Quality Score

Status

Chromosome

Chromosomal Location

121126568-121303984 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 121260626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000209211] [ENSMUST00000209995] [ENSMUST00000210351] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211439] [ENSMUST00000211301]

AlphaFold

Q6PD31

Predicted Effect

probably null
Transcript: ENSMUST00000045903

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536

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 benign
Transcript: ENSMUST00000209211

Predicted Effect

probably null
Transcript: ENSMUST00000209995

Predicted Effect

probably null
Transcript: ENSMUST00000210351

Predicted Effect

probably null
Transcript: ENSMUST00000210636

Predicted Effect

probably null
Transcript: ENSMUST00000210798

Predicted Effect

probably null
Transcript: ENSMUST00000211187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Predicted Effect

probably null
Transcript: ENSMUST00000211439

Predicted Effect

probably benign
Transcript: ENSMUST00000211301

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,205 (GRCm39)	V240A	possibly damaging	Het
Aftph	A	T	11: 20,676,554 (GRCm39)	C352S	possibly damaging	Het
Cand2	T	C	6: 115,769,818 (GRCm39)	V876A	probably damaging	Het
Ccar1	T	C	10: 62,616,356 (GRCm39)	I125V	possibly damaging	Het
Celsr3	A	T	9: 108,713,141 (GRCm39)	M1858L	probably benign	Het
Csmd3	A	T	15: 47,561,594 (GRCm39)	N2134K	probably benign	Het
Dhx29	A	G	13: 113,067,406 (GRCm39)	I96V	probably benign	Het
Dst	A	G	1: 34,238,478 (GRCm39)	T3727A	probably benign	Het
Elavl4	T	A	4: 110,063,858 (GRCm39)		probably null	Het
Eno2	C	T	6: 124,743,600 (GRCm39)	G113D	probably damaging	Het
Esf1	A	C	2: 139,999,092 (GRCm39)		probably null	Het
Frmd4b	T	C	6: 97,272,905 (GRCm39)	D783G	probably benign	Het
Grin2a	C	T	16: 9,461,994 (GRCm39)	V713I	probably benign	Het
Impa1	C	T	3: 10,388,008 (GRCm39)	G138D	probably damaging	Het
Kcnt2	A	G	1: 140,523,736 (GRCm39)	T1079A	probably benign	Het
Kmt2a	A	G	9: 44,760,302 (GRCm39)	S549P	probably damaging	Het
Magoh	C	A	4: 107,740,373 (GRCm39)	Q86K	probably benign	Het
Moxd1	C	A	10: 24,128,494 (GRCm39)	T182K	probably benign	Het
Or5p55	A	G	7: 107,566,709 (GRCm39)	Y35C	probably damaging	Het
Pramel25	T	G	4: 143,521,688 (GRCm39)	C435G	possibly damaging	Het
Rab3b	A	T	4: 108,786,607 (GRCm39)	Q119L	probably damaging	Het
Snap47	T	A	11: 59,312,477 (GRCm39)		probably null	Het
Taar3	A	G	10: 23,825,903 (GRCm39)	R150G	probably benign	Het
Tas2r102	C	T	6: 132,739,815 (GRCm39)	T241I	probably damaging	Het
Tas2r114	C	T	6: 131,666,664 (GRCm39)	W121*	probably null	Het
Ubn1	T	C	16: 4,890,013 (GRCm39)	V426A	possibly damaging	Het
Vmn1r40	T	C	6: 89,691,204 (GRCm39)	L7P	probably benign	Het
Vmn2r43	T	C	7: 8,258,272 (GRCm39)	I314V	probably damaging	Het
Vrtn	T	G	12: 84,695,696 (GRCm39)	S149A	probably benign	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
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
IGL02248:Trak1	APN	9	121,275,860 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04