Mutagenetix > Incidental Mutation

Incidental Mutation 'R6399:Trak1'

516103

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6399 (G1)

Quality Score

111.008

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

splice site (52 bp from exon)

DNA Base Change (assembly)

A to G at 121453496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148026 (fasta)

Gene Model

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

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: ENSMUST00000209446

Predicted Effect

probably null
Transcript: ENSMUST00000210798

Predicted Effect

probably null
Transcript: ENSMUST00000211187

Predicted Effect

probably benign
Transcript: ENSMUST00000211301

Predicted Effect

probably null
Transcript: ENSMUST00000211439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

97% (28/29)

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
A430033K04Rik	T	C	5: 138,647,559	C569R	probably damaging	Het
Acadsb	T	A	7: 131,430,055	W207R	probably damaging	Het
Apbb2	C	T	5: 66,451,467		probably null	Het
Atad2b	T	C	12: 4,957,558	V415A	probably damaging	Het
Ccdc150	G	A	1: 54,263,957		probably null	Het
Chd7	A	G	4: 8,828,274	T1072A	probably damaging	Het
Depdc1b	T	A	13: 108,324,046	F63L	probably damaging	Het
Dnah2	C	T	11: 69,458,518	V2431M	probably damaging	Het
Dnajc14	A	G	10: 128,807,490	E427G	probably damaging	Het
Flnc	A	G	6: 29,458,883	E2421G	probably damaging	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Kcna4	T	C	2: 107,296,549	S543P	probably damaging	Het
Lrrc30	T	A	17: 67,632,686		probably benign	Het
Msh6	T	A	17: 87,986,891	S1025T	probably damaging	Het
Ndrg3	C	G	2: 156,940,374	A191P	probably damaging	Het
Olfr259	C	T	2: 87,107,986	V134I	probably benign	Het
Olfr467	A	G	7: 107,814,754	T57A	possibly damaging	Het
Olfr99	T	C	17: 37,279,775	Y215C	probably damaging	Het
Pls1	A	G	9: 95,754,745	I558T	probably damaging	Het
Rnf34	T	C	5: 122,861,776	F32L	probably benign	Het
Serpinb9g	A	T	13: 33,492,851	L205F	probably benign	Het
Tbc1d24	T	A	17: 24,208,329	I220F	probably damaging	Het
Thsd7b	A	T	1: 129,816,648	T758S	probably benign	Het
Ttn	T	G	2: 76,726,062	S30200R	probably damaging	Het
Ttn	G	C	2: 76,726,063	F30199L	probably benign	Het
Uggt1	T	C	1: 36,163,366	D1050G	possibly damaging	Het
Veph1	T	A	3: 66,125,891	S605C	probably benign	Het
Wbp1	A	G	6: 83,120,001		probably benign	Het
Ythdc2	C	A	18: 44,886,402	Q1413K	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCCCATGAACATCCCGG -3'
(R):5'- CACGGTGATGATCTGTGGGAAATG -3'

Sequencing Primer
(F):5'- ATGAACATCCCGGGCTCC -3'
(R):5'- GGAAATGTGTTAGTTCTCCCTCCATG -3'

Posted On

2018-05-04