Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Trak1'

80858

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

039050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121453285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 410 (M410K)

Ref Sequence

ENSEMBL: ENSMUSP00000147624 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: M420K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: M420K

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

possibly damaging
Transcript: ENSMUST00000210798
AA Change: M317K

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211187
AA Change: M410K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211301
AA Change: M317K

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211439
AA Change: M317K

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835	N468Y	probably benign	Het
4930595M18Rik	G	T	X: 81,420,931	T390N	possibly damaging	Het
Abca13	C	T	11: 9,291,238	Q1034*	probably null	Het
Adgra3	T	C	5: 49,960,723	H1161R	probably damaging	Het
AF529169	T	C	9: 89,602,417	H309R	probably benign	Het
Aff1	T	C	5: 103,826,138		probably benign	Het
Agap2	A	G	10: 127,091,702	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 65,985,132	V1102A	probably benign	Het
Ankrd54	A	T	15: 79,062,731	C23S	probably damaging	Het
Anxa10	C	T	8: 62,077,967	V70I	probably benign	Het
Asap3	T	C	4: 136,234,325		probably benign	Het
Asb13	T	C	13: 3,645,052		probably null	Het
Atp6v1a	A	T	16: 44,101,692		probably benign	Het
Atp8b1	T	G	18: 64,564,541	I411L	probably benign	Het
Baiap3	T	A	17: 25,249,101	N313I	probably damaging	Het
Bok	T	C	1: 93,686,487	I14T	probably benign	Het
Bri3bp	T	A	5: 125,441,744		probably null	Het
C2cd2l	A	G	9: 44,316,202	L186P	probably damaging	Het
Cadm2	A	T	16: 66,882,814	C44S	probably damaging	Het
Capn11	T	C	17: 45,638,881		probably benign	Het
Carm1	T	A	9: 21,569,591		probably benign	Het
Ccdc189	T	C	7: 127,584,862	E261G	probably damaging	Het
Ccdc27	T	C	4: 154,036,484	E285G	unknown	Het
Cct3	T	A	3: 88,313,557	D298E	probably damaging	Het
Cd59b	T	A	2: 104,080,986		probably benign	Het
Cdh2	T	C	18: 16,629,576	N437S	probably benign	Het
Celsr3	T	A	9: 108,842,633	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,415,906		probably benign	Het
Cfap45	A	T	1: 172,532,189	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,870,669	H2757L	unknown	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Cntn4	A	T	6: 106,667,540		probably benign	Het
Cstf2t	A	T	19: 31,084,626	M521L	probably benign	Het
Daam2	A	T	17: 49,498,883		probably benign	Het
Ddias	A	T	7: 92,859,337	W457R	probably benign	Het
Ddr2	C	T	1: 169,994,629	V417I	probably benign	Het
Dhx57	T	C	17: 80,270,371	T570A	probably damaging	Het
Dmp1	A	G	5: 104,207,630	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,801,788	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,649,271	M286I	probably benign	Het
Eea1	G	A	10: 96,021,667	D664N	possibly damaging	Het
Esp6	G	T	17: 40,565,396	V112L	probably benign	Het
Fam83h	G	T	15: 76,006,169	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474	T802I	probably benign	Het
Gart	C	A	16: 91,623,403	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,228,095	H161Q	probably damaging	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm4907	A	T	X: 23,907,051	I264F	probably benign	Het
Gm5941	G	A	X: 92,490,211	A62T	possibly damaging	Het
Gng2	G	T	14: 19,891,295	D26E	probably benign	Het
Gpr33	A	G	12: 52,023,635	V207A	probably benign	Het
Gstm3	T	A	3: 107,966,270		probably benign	Het
Havcr1	T	C	11: 46,752,432	C60R	probably damaging	Het
Hspg2	T	C	4: 137,541,440	S2157P	probably benign	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Igsf8	C	A	1: 172,316,259	A56D	possibly damaging	Het
Kat6a	G	T	8: 22,862,214	A5S	probably damaging	Het
Kctd16	A	G	18: 40,530,775	E319G	probably damaging	Het
Kmo	T	C	1: 175,647,140	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,605,308	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,561,278	T253A	probably benign	Het
Mast2	T	A	4: 116,311,767	H769L	probably damaging	Het
Mast4	T	C	13: 102,853,900	K50E	probably damaging	Het
Mbd5	A	G	2: 49,256,689	T304A	possibly damaging	Het
Mbp	T	C	18: 82,572,870	S73P	probably damaging	Het
Mc5r	T	A	18: 68,339,092	V174E	probably damaging	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002		probably benign	Het
Mlh3	C	G	12: 85,235,714	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,359,991		probably benign	Het
Muc5ac	A	G	7: 141,796,265	T582A	possibly damaging	Het
Mum1l1	T	A	X: 139,235,695	D327E	probably damaging	Het
Nalcn	A	G	14: 123,464,740	F453S	probably damaging	Het
Nrap	T	A	19: 56,345,474	M902L	probably damaging	Het
Nup85	C	T	11: 115,568,370	R100*	probably null	Het
Nxf1	T	G	19: 8,764,591	N296K	probably damaging	Het
Ogg1	A	G	6: 113,328,420	T65A	probably damaging	Het
Ogt	A	G	X: 101,644,199		probably benign	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr504	T	A	7: 108,565,276	N173I	probably benign	Het
Olfr558	T	A	7: 102,709,995	H245Q	probably damaging	Het
Ovol2	T	C	2: 144,331,790	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,054		probably benign	Het
Pak6	T	C	2: 118,693,687	L441P	probably damaging	Het
Pappa	T	A	4: 65,189,315	C654*	probably null	Het
Paqr6	T	A	3: 88,365,991	S97T	probably damaging	Het
Parp14	T	C	16: 35,858,518	N360S	probably benign	Het
Pclo	G	T	5: 14,677,859	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,155,942		probably null	Het
Pes1	T	C	11: 3,975,557	M220T	probably damaging	Het
Phip	A	T	9: 82,876,221	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,430,268		probably null	Het
Plch1	T	C	3: 63,753,256	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,618,031	T1419A	probably benign	Het
Ppara	A	T	15: 85,798,171	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,532,177	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,639,710	E545G	possibly damaging	Het
Proser3	G	A	7: 30,540,699	H327Y	probably damaging	Het
Prss43	T	A	9: 110,829,508	I292N	probably damaging	Het
Pygl	G	C	12: 70,206,404	N271K	probably damaging	Het
Rassf7	T	A	7: 141,216,990		probably benign	Het
Rfx2	T	C	17: 56,803,722	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478	V214A	probably benign	Het
Rspo1	T	A	4: 124,991,432		probably null	Het
Sav1	A	C	12: 69,966,205	L366V	probably benign	Het
Sema3b	T	G	9: 107,604,156	T52P	possibly damaging	Het
Senp6	A	G	9: 80,116,559	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,268,207	S719P	probably damaging	Het
Shank1	C	T	7: 44,352,294	R1146W	unknown	Het
Slc34a3	G	T	2: 25,231,233	D307E	probably benign	Het
Slc35b3	T	C	13: 38,937,275	I330V	probably benign	Het
Slc4a10	G	A	2: 62,243,398	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,421,399	E65G	probably benign	Het
Slit2	A	G	5: 48,245,573		probably benign	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Snap47	A	G	11: 59,438,500		probably benign	Het
Snrnp25	G	A	11: 32,206,960	V15I	probably damaging	Het
Spns2	T	C	11: 72,454,397	Y449C	probably damaging	Het
Stab2	T	A	10: 86,924,450		probably benign	Het
Strip1	C	A	3: 107,614,613	D750Y	probably damaging	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003	K745*	probably null	Het
Tctn1	T	C	5: 122,264,144	T76A	probably damaging	Het
Tfpi	T	C	2: 84,443,320		probably benign	Het
Timm44	A	T	8: 4,266,592	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,530,014		probably benign	Het
Tnpo3	A	T	6: 29,554,993		probably benign	Het
Top3b	T	C	16: 16,879,437		probably benign	Het
Trpm3	C	A	19: 22,978,654	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,111,137	T799S	possibly damaging	Het
Ubfd1	G	A	7: 122,067,491		probably benign	Het
Unc13a	G	A	8: 71,642,173	R1272*	probably null	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,030,970	Q1139*	probably null	Het
Vmn2r66	A	T	7: 85,007,862	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,623,634	D552V	probably benign	Het
Vmn2r76	A	G	7: 86,228,696	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,391,115	W285G	probably damaging	Het
Vps72	G	T	3: 95,122,583	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Yaf2	T	C	15: 93,285,536	K131R	probably damaging	Het
Zfp141	A	T	7: 42,476,056	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,971,024	C380F	probably damaging	Het
Zfp521	T	C	18: 13,845,062	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674	H923L	probably damaging	Het
Zfpm1	C	T	8: 122,335,846	T548M	probably damaging	Het
Zp2	A	T	7: 120,143,576		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
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
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'- CATTCCCTAAGGAGCATGTGAGGC -3'
(R):5'- GGTAAAGCACACCGTGGACATCAG -3'

Sequencing Primer
(F):5'- ATGTGAGGCCCCCAGAC -3'
(R):5'- TCTGAGCCCATGTTCAAGG -3'

Posted On

2013-11-07