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

044546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R6399 (G1)

Quality Score

111.008

Status

Validated

Chromosome

Chromosomal Location

121126568-121303984 bp(+) (GRCm39)

Type of Mutation

splice site (52 bp from exon)

DNA Base Change (assembly)

A to G at 121282562 bp (GRCm39)

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: 138,645,821 (GRCm39)	C569R	probably damaging	Het
Acadsb	T	A	7: 131,031,784 (GRCm39)	W207R	probably damaging	Het
Apbb2	C	T	5: 66,608,810 (GRCm39)		probably null	Het
Atad2b	T	C	12: 5,007,558 (GRCm39)	V415A	probably damaging	Het
Ccdc150	G	A	1: 54,303,116 (GRCm39)		probably null	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,828,274 (GRCm39)	T1072A	probably damaging	Het
Depdc1b	T	A	13: 108,460,580 (GRCm39)	F63L	probably damaging	Het
Dnah2	C	T	11: 69,349,344 (GRCm39)	V2431M	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Flnc	A	G	6: 29,458,882 (GRCm39)	E2421G	probably damaging	Het
Kcna4	T	C	2: 107,126,894 (GRCm39)	S543P	probably damaging	Het
Lrrc30	T	A	17: 67,939,681 (GRCm39)		probably benign	Het
Msh6	T	A	17: 88,294,319 (GRCm39)	S1025T	probably damaging	Het
Ndrg3	C	G	2: 156,782,294 (GRCm39)	A191P	probably damaging	Het
Or1o4	T	C	17: 37,590,666 (GRCm39)	Y215C	probably damaging	Het
Or5aq7	C	T	2: 86,938,330 (GRCm39)	V134I	probably benign	Het
Or5p5	A	G	7: 107,413,961 (GRCm39)	T57A	possibly damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Rnf34	T	C	5: 122,999,839 (GRCm39)	F32L	probably benign	Het
Serpinb9g	A	T	13: 33,676,834 (GRCm39)	L205F	probably benign	Het
Tbc1d24	T	A	17: 24,427,303 (GRCm39)	I220F	probably damaging	Het
Thsd7b	A	T	1: 129,744,385 (GRCm39)	T758S	probably benign	Het
Ttn	G	C	2: 76,556,407 (GRCm39)	F30199L	probably benign	Het
Ttn	T	G	2: 76,556,406 (GRCm39)	S30200R	probably damaging	Het
Uggt1	T	C	1: 36,202,447 (GRCm39)	D1050G	possibly damaging	Het
Veph1	T	A	3: 66,033,312 (GRCm39)	S605C	probably benign	Het
Wbp1	A	G	6: 83,096,982 (GRCm39)		probably benign	Het
Ythdc2	C	A	18: 45,019,469 (GRCm39)	Q1413K	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
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
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

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