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: 0.227) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121126568-121303984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121282351 bp (GRCm39)

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: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
4930595M18Rik	G	T	X: 80,464,537 (GRCm39)	T390N	possibly damaging	Het
Abca13	C	T	11: 9,241,238 (GRCm39)	Q1034*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Adgra3	T	C	5: 50,118,065 (GRCm39)	H1161R	probably damaging	Het
Aff1	T	C	5: 103,974,004 (GRCm39)		probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 66,292,127 (GRCm39)	V1102A	probably benign	Het
Ankrd54	A	T	15: 78,946,931 (GRCm39)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,531,001 (GRCm39)	V70I	probably benign	Het
Asap3	T	C	4: 135,961,636 (GRCm39)		probably benign	Het
Asb13	T	C	13: 3,695,052 (GRCm39)		probably null	Het
Atp6v1a	A	T	16: 43,922,055 (GRCm39)		probably benign	Het
Atp8b1	T	G	18: 64,697,612 (GRCm39)	I411L	probably benign	Het
Baiap3	T	A	17: 25,468,075 (GRCm39)	N313I	probably damaging	Het
Bok	T	C	1: 93,614,209 (GRCm39)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,518,808 (GRCm39)		probably null	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,679,702 (GRCm39)	C44S	probably damaging	Het
Capn11	T	C	17: 45,949,807 (GRCm39)		probably benign	Het
Carm1	T	A	9: 21,480,887 (GRCm39)		probably benign	Het
Ccdc27	T	C	4: 154,120,941 (GRCm39)	E285G	unknown	Het
Cct3	T	A	3: 88,220,864 (GRCm39)	D298E	probably damaging	Het
Cd59b	T	A	2: 103,911,331 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Celsr3	T	A	9: 108,719,832 (GRCm39)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,392,888 (GRCm39)		probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap45	A	T	1: 172,359,756 (GRCm39)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,706,531 (GRCm39)	H2757L	unknown	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cntn4	A	T	6: 106,644,501 (GRCm39)		probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Daam2	A	T	17: 49,805,911 (GRCm39)		probably benign	Het
Ddias	A	T	7: 92,508,545 (GRCm39)	W457R	probably benign	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Dhx57	T	C	17: 80,577,800 (GRCm39)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,729,510 (GRCm39)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,956,699 (GRCm39)	M286I	probably benign	Het
Eea1	G	A	10: 95,857,529 (GRCm39)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,876,287 (GRCm39)	V112L	probably benign	Het
Fam83h	G	T	15: 75,878,018 (GRCm39)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm39)	T802I	probably benign	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gm5941	G	A	X: 91,533,817 (GRCm39)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,941,363 (GRCm39)	D26E	probably benign	Het
Gpr33	A	G	12: 52,070,418 (GRCm39)	V207A	probably benign	Het
Gstm3	T	A	3: 107,873,586 (GRCm39)		probably benign	Het
Havcr1	T	C	11: 46,643,259 (GRCm39)	C60R	probably damaging	Het
Hspg2	T	C	4: 137,268,751 (GRCm39)	S2157P	probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,143,826 (GRCm39)	A56D	possibly damaging	Het
Kat6a	G	T	8: 23,352,230 (GRCm39)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,663,828 (GRCm39)	E319G	probably damaging	Het
Kmo	T	C	1: 175,474,706 (GRCm39)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,655,308 (GRCm39)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,766,276 (GRCm39)	T253A	probably benign	Het
Mast2	T	A	4: 116,168,964 (GRCm39)	H769L	probably damaging	Het
Mast4	T	C	13: 102,990,408 (GRCm39)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,146,701 (GRCm39)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,590,995 (GRCm39)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,472,163 (GRCm39)	V174E	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Minar1	T	C	9: 89,484,470 (GRCm39)	H309R	probably benign	Het
Mlh3	C	G	12: 85,282,488 (GRCm39)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,278,228 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,350,002 (GRCm39)	T582A	possibly damaging	Het
Nalcn	A	G	14: 123,702,152 (GRCm39)	F453S	probably damaging	Het
Nrap	T	A	19: 56,333,906 (GRCm39)	M902L	probably damaging	Het
Nup85	C	T	11: 115,459,196 (GRCm39)	R100*	probably null	Het
Nxf1	T	G	19: 8,741,955 (GRCm39)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,305,381 (GRCm39)	T65A	probably damaging	Het
Ogt	A	G	X: 100,687,805 (GRCm39)		probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Or56b1b	T	A	7: 108,164,483 (GRCm39)	N173I	probably benign	Het
Ovol2	T	C	2: 144,173,710 (GRCm39)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,298 (GRCm39)		probably benign	Het
Pak6	T	C	2: 118,524,168 (GRCm39)	L441P	probably damaging	Het
Pappa	T	A	4: 65,107,552 (GRCm39)	C654*	probably null	Het
Paqr6	T	A	3: 88,273,298 (GRCm39)	S97T	probably damaging	Het
Parp14	T	C	16: 35,678,888 (GRCm39)	N360S	probably benign	Het
Pclo	G	T	5: 14,727,873 (GRCm39)	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,132,903 (GRCm39)		probably null	Het
Pes1	T	C	11: 3,925,557 (GRCm39)	M220T	probably damaging	Het
Phip	A	T	9: 82,758,274 (GRCm39)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,563,321 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,660,677 (GRCm39)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,925,459 (GRCm39)	T1419A	probably benign	Het
Ppara	A	T	15: 85,682,372 (GRCm39)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,266,102 (GRCm39)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,642,709 (GRCm39)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,240,124 (GRCm39)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,658,576 (GRCm39)	I292N	probably damaging	Het
Pwwp3b	T	A	X: 138,136,444 (GRCm39)	D327E	probably damaging	Het
Pygl	G	C	12: 70,253,178 (GRCm39)	N271K	probably damaging	Het
Rassf7	T	A	7: 140,796,903 (GRCm39)		probably benign	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Rspo1	T	A	4: 124,885,225 (GRCm39)		probably null	Het
Sav1	A	C	12: 70,012,979 (GRCm39)	L366V	probably benign	Het
Sema3b	T	G	9: 107,481,355 (GRCm39)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,023,841 (GRCm39)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,256,646 (GRCm39)	S719P	probably damaging	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,121,245 (GRCm39)	D307E	probably benign	Het
Slc35b3	T	C	13: 39,121,251 (GRCm39)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,073,742 (GRCm39)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,349,124 (GRCm39)	E65G	probably benign	Het
Slit2	A	G	5: 48,402,915 (GRCm39)		probably benign	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,329,326 (GRCm39)		probably benign	Het
Snrnp25	G	A	11: 32,156,960 (GRCm39)	V15I	probably damaging	Het
Spns2	T	C	11: 72,345,223 (GRCm39)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,760,314 (GRCm39)		probably benign	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm39)	K745*	probably null	Het
Tctn1	T	C	5: 122,402,207 (GRCm39)	T76A	probably damaging	Het
Tesl1	A	T	X: 23,773,290 (GRCm39)	I264F	probably benign	Het
Tfpi	T	C	2: 84,273,664 (GRCm39)		probably benign	Het
Timm44	A	T	8: 4,316,592 (GRCm39)	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,554,992 (GRCm39)		probably benign	Het
Top3b	T	C	16: 16,697,301 (GRCm39)		probably benign	Het
Trpm3	C	A	19: 22,956,018 (GRCm39)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,022,433 (GRCm39)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 121,666,714 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,094,817 (GRCm39)	R1272*	probably null	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,757,709 (GRCm39)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 84,657,070 (GRCm39)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,272,842 (GRCm39)	D552V	probably benign	Het
Vmn2r76	A	G	7: 85,877,904 (GRCm39)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,226,984 (GRCm39)	W285G	probably damaging	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,183,417 (GRCm39)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,125,480 (GRCm39)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,704,951 (GRCm39)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	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
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
R6399:Trak1	UTSW	9	121,282,562 (GRCm39)	splice site	probably null
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'- CATTCCCTAAGGAGCATGTGAGGC -3'
(R):5'- GGTAAAGCACACCGTGGACATCAG -3'

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

Posted On

2013-11-07