Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Trak1'

231212

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

040122-MU

Accession Numbers

Essential gene?

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

Stock #

R2118 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

121126568-121303984 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 121302063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 940 (*940R)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably null
Transcript: ENSMUST00000045903
AA Change: *940R

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: *940R

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

0.9578

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,214,121 (GRCm39)	W30R	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (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
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
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'- TATCCCCACCTTGACTGAGG -3'
(R):5'- AGGTCCCCAAGTCCTGTATAC -3'

Sequencing Primer
(F):5'- AACAGGGACCTCTCCTCTGTG -3'
(R):5'- GTCCTGTATACACACCATATGGAG -3'

Posted On

2014-09-18