Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Trak1'

100337

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

039233-MU

Accession Numbers

Essential gene?

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

Stock #

R1160 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121392007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 80 (I80T)

Ref Sequence

ENSEMBL: ENSMUSP00000148092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000209211] [ENSMUST00000209995] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211301] [ENSMUST00000211439]

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: I80T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: I80T

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: ENSMUST00000209211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209306

Predicted Effect

probably benign
Transcript: ENSMUST00000209995

Predicted Effect

probably benign
Transcript: ENSMUST00000210636
AA Change: I80T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000210798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211149

Predicted Effect

probably benign
Transcript: ENSMUST00000211301

Predicted Effect

probably benign
Transcript: ENSMUST00000211439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	C	A	3: 88,708,862	P452Q	probably damaging	Het
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,541,087	S128C	probably damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,728,831		probably null	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Usf3	T	A	16: 44,218,547	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	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
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
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

Posted On

2014-01-15