Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01986:Trak1'

181926

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 #

IGL01986

Quality Score

Status

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121472967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 930 (A930T)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: A930T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: A930T

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: ENSMUST00000209446

Predicted Effect

probably benign
Transcript: ENSMUST00000210798

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	T	2: 152,441,036	I245F	possibly damaging	Het
Abca3	G	A	17: 24,408,114	G1263D	probably damaging	Het
Arap2	A	T	5: 62,621,922	S1442T	probably damaging	Het
Arl15	C	A	13: 113,922,366	S56R	possibly damaging	Het
C530008M17Rik	T	A	5: 76,858,610	S939R	unknown	Het
Ccdc38	A	T	10: 93,579,843	N415Y	probably damaging	Het
Ccny	G	A	18: 9,377,817	R81C	probably damaging	Het
Csmd3	T	C	15: 47,659,195	T2693A	possibly damaging	Het
Fancm	C	T	12: 65,126,655	Q1914*	probably null	Het
Fuk	T	C	8: 110,883,257	T1042A	probably benign	Het
Gm18856	G	A	13: 13,964,828		probably benign	Het
Gramd1a	A	T	7: 31,134,009	L610Q	possibly damaging	Het
Hsd17b4	C	A	18: 50,160,126		probably benign	Het
Hspa12a	A	G	19: 58,799,402	S663P	probably benign	Het
Insr	C	T	8: 3,158,817	V1215I	probably damaging	Het
Kdr	A	G	5: 75,952,859	V783A	probably benign	Het
Klhl9	T	C	4: 88,721,779	D75G	probably damaging	Het
Lmntd1	A	G	6: 145,419,807	S53P	probably damaging	Het
Lrrc41	T	A	4: 116,089,322	F411L	probably benign	Het
Lyst	G	A	13: 13,775,627		probably null	Het
Mmp17	A	G	5: 129,596,628	H257R	probably damaging	Het
Nkiras1	G	A	14: 18,280,071	R154Q	probably damaging	Het
Olfr1123	A	G	2: 87,418,536	I163V	probably benign	Het
Olfr1182	C	T	2: 88,446,495	V148I	probably benign	Het
Olfr124	A	G	17: 37,806,066	K307R	probably damaging	Het
Olfr285	T	C	15: 98,312,779	Y257C	probably damaging	Het
Pcsk6	G	A	7: 65,927,877	R60H	probably damaging	Het
Polk	T	C	13: 96,483,823	D623G	probably benign	Het
Rlf	A	T	4: 121,148,106	C1226S	probably damaging	Het
Rpa2	C	T	4: 132,771,880	P87S	probably benign	Het
Rpa2	C	T	4: 132,771,881	P87L	probably benign	Het
Sema5a	T	C	15: 32,682,360		probably benign	Het
Sis	A	T	3: 72,945,212	M529K	probably damaging	Het
Sspo	T	C	6: 48,483,303	M3375T	probably benign	Het
Syne3	A	T	12: 104,968,000	L83Q	probably damaging	Het
Tec	A	T	5: 72,782,005	Y222*	probably null	Het
Tfap2d	C	T	1: 19,119,159		probably benign	Het
Ugt2b34	G	T	5: 86,901,252	H305N	probably benign	Het
Vmn2r95	A	G	17: 18,440,211	N295S	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
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
IGL03368:Trak1	APN	9	121367122	missense	possibly damaging	0.66
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

2014-05-07