Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Trak1'

35384

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121454338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 390 (E390G)

Ref Sequence

ENSEMBL: ENSMUSP00000148026 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045903
AA Change: E493G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: E493G

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

unknown
Transcript: ENSMUST00000209446
AA Change: E14G

Predicted Effect

probably damaging
Transcript: ENSMUST00000210798
AA Change: E390G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211187
AA Change: E483G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211301
AA Change: E390G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211439
AA Change: E390G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Meta Mutation Damage Score

0.1027

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472		probably benign	Het
Aspm	T	C	1: 139,478,471	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673		probably benign	Het
Baiap3	A	C	17: 25,243,687	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837		probably null	Het
Bms1	G	A	6: 118,408,134	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065		probably benign	Het
Ccdc180	A	G	4: 45,923,534	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740		probably benign	Het
Cntrl	A	T	2: 35,151,732	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998	R502Q	probably benign	Het
Efcab5	A	G	11: 77,129,876	M673T	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
F2rl3	A	G	8: 72,762,798	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575		probably benign	Het
Haspin	A	T	11: 73,136,487	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650		probably benign	Het
Kmt2d	T	C	15: 98,850,311		probably benign	Het
Lars2	A	G	9: 123,438,121		probably benign	Het
Lilrb4a	T	C	10: 51,491,581	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263		probably benign	Het
Mc2r	A	T	18: 68,408,132	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107		probably null	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629		probably benign	Het
Nlk	T	C	11: 78,571,475	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162		probably null	Het
Olfr1212	T	A	2: 88,958,755	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049		probably benign	Het
Prrc2b	G	A	2: 32,219,654	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735		probably null	Het
Rab5b	A	C	10: 128,686,746		probably null	Het
Rft1	T	A	14: 30,690,583	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rsu1	A	T	2: 13,170,135		probably benign	Het
Senp6	A	G	9: 80,136,747	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663		probably benign	Het
Snx29	T	C	16: 11,738,373	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416		probably null	Het
Stx6	T	C	1: 155,174,163		probably benign	Het
Thbs4	G	A	13: 92,775,532	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373		probably benign	Het
Top2a	A	G	11: 99,009,907		probably benign	Het
Tpd52l2	T	C	2: 181,502,059		probably null	Het
Trappc3	T	A	4: 126,273,952	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086	M1V	probably null	Het
Triobp	T	A	15: 78,973,676	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297		probably benign	Het
Usb1	A	G	8: 95,333,457	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507	C1089G	probably 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
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'- GCCACCTGCAAAAGGTTTCTTCC -3'
(R):5'- ACCTTCGAGTGGCTTCACGATCTG -3'

Sequencing Primer
(F):5'- AGGTTTCTTCCAGAACAACCTG -3'
(R):5'- CTGCTGAAGGACATGCCAG -3'

Posted On

2013-05-09