Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Trak1'

59649

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

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

Stock #

R0067 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 121472907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 910 (V910L)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably damaging
Transcript: ENSMUST00000045903
AA Change: V910L

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

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: V910L

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

Meta Mutation Damage Score

0.1884

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

97% (63/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,911,570	V248M	possibly damaging	Het
Adamts9	T	A	6: 92,890,167	K79N	probably damaging	Het
AW209491	A	T	13: 14,637,743	I394F	probably benign	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1d	A	T	14: 30,075,010		probably benign	Het
Cacna1i	A	T	15: 80,381,172	I1542F	probably damaging	Het
Cep97	A	T	16: 55,915,561	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,860,141		probably benign	Het
Coq8b	T	C	7: 27,233,481	L5P	possibly damaging	Het
Dennd1c	T	C	17: 57,075,465	Q67R	probably damaging	Het
Dysf	T	C	6: 84,063,331	V119A	possibly damaging	Het
Eml1	A	G	12: 108,463,527	D23G	possibly damaging	Het
Eva1c	A	T	16: 90,866,417	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,473,996	K95R	probably benign	Het
Glo1	A	T	17: 30,594,271		probably null	Het
Gm11360	T	A	13: 27,956,231	M26K	probably benign	Het
Gps2	C	T	11: 69,914,781	Q42*	probably null	Het
Gypa	A	G	8: 80,503,081	H102R	possibly damaging	Het
Hdac4	G	A	1: 92,029,984	H103Y	probably damaging	Het
Hivep1	T	A	13: 42,158,656	D1457E	probably benign	Het
Hunk	A	G	16: 90,447,312	D110G	probably damaging	Het
L3mbtl1	A	G	2: 162,948,828	K225E	probably damaging	Het
Limch1	A	G	5: 66,974,622	S143G	probably damaging	Het
Macf1	T	C	4: 123,475,248	K342E	possibly damaging	Het
Mc5r	T	A	18: 68,339,566	M332K	probably damaging	Het
Memo1	A	G	17: 74,225,458	V185A	probably damaging	Het
Myf6	A	T	10: 107,493,479		probably null	Het
Myh14	G	A	7: 44,623,127	T1418I	probably benign	Het
Pbk	G	A	14: 65,815,226	V173I	possibly damaging	Het
Plekha5	C	T	6: 140,524,903	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,720,641	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,294,820	R246S	probably damaging	Het
Rflnb	A	T	11: 76,022,161	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,867,498		probably null	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rtn2	T	A	7: 19,294,471		probably benign	Het
Satb1	T	C	17: 51,804,336	T165A	probably damaging	Het
Scamp1	T	C	13: 94,204,150	Y237C	probably damaging	Het
Skint10	A	T	4: 112,711,556	F321L	probably benign	Het
Skiv2l2	C	T	13: 112,886,862	V727I	probably benign	Het
Slc36a2	A	G	11: 55,162,640		probably benign	Het
Slc8a1	A	G	17: 81,437,759	V672A	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spats2	C	A	15: 99,212,287	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,949,340	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,234,243	T241A	probably damaging	Het
Ticrr	A	T	7: 79,677,410	D622V	probably damaging	Het
Tie1	A	G	4: 118,476,280		probably benign	Het
Trmt1l	T	C	1: 151,448,380	V326A	probably benign	Het
Tshr	A	G	12: 91,505,283	T136A	probably damaging	Het
Ube3c	A	G	5: 29,598,938	T180A	possibly damaging	Het
Unc13a	A	C	8: 71,634,658	F1482V	probably damaging	Het
Unc79	A	G	12: 103,059,518	E388G	probably damaging	Het
Ush2a	A	T	1: 188,964,846	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdfy4	G	A	14: 33,162,751	R65C	probably null	Het
Zcchc9	T	C	13: 91,797,249	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,423,474	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,428,403	D366G	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
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

Predicted Primers

PCR Primer
(F):5'- GATGTGTCTGTCTCCAACCTCAACC -3'
(R):5'- GTGACATCCTCACGAGATTGTGACC -3'

Sequencing Primer
(F):5'- TCAACCTTGTGGACAAAGTCAG -3'
(R):5'- TCTCTCTAACTCAGAAGGAGTGGAC -3'

Posted On

2013-07-11