Mutagenetix > Incidental Mutation

Incidental Mutation 'R4406:Trak1'

327667

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

041688-MU

Accession Numbers

Essential gene?

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

Stock #

R4406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121431536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

Ref Sequence

ENSEMBL: ENSMUSP00000147604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045903] [ENSMUST00000209211] [ENSMUST00000209995] [ENSMUST00000210351] [ENSMUST00000210636] [ENSMUST00000210798] [ENSMUST00000211187] [ENSMUST00000211301] [ENSMUST00000211439]

AlphaFold

Q6PD31

Predicted Effect

probably damaging
Transcript: ENSMUST00000045903
AA Change: V114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: V114A

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

unknown
Transcript: ENSMUST00000209995
AA Change: V11A

Predicted Effect

probably damaging
Transcript: ENSMUST00000210351
AA Change: V64A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210636
AA Change: V114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210798
AA Change: V11A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211187
AA Change: V104A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211301
AA Change: V11A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211439
AA Change: V11A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Meta Mutation Damage Score

0.9010

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,280,449	L1170F	probably benign	Het
Acss3	A	T	10: 107,053,337	D207E	probably damaging	Het
Adgrl1	T	C	8: 83,930,042	S325P	probably damaging	Het
Ankrd37	A	G	8: 45,997,094		probably benign	Het
Atp13a2	C	T	4: 141,006,476	P1059S	probably damaging	Het
Camkv	T	C	9: 107,946,219		probably null	Het
Ces1f	T	C	8: 93,263,322	T387A	probably benign	Het
Dmxl1	T	A	18: 49,889,553	L1653I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fat2	G	A	11: 55,262,268	A3706V	probably benign	Het
Fbln1	T	A	15: 85,231,556		probably null	Het
Gm1527	G	A	3: 28,895,725	V45M	possibly damaging	Het
Gm5084	A	G	13: 60,212,566		noncoding transcript	Het
Itpr1	T	A	6: 108,354,663	H194Q	probably damaging	Het
Kif24	A	T	4: 41,393,954	L973Q	probably damaging	Het
Lrfn4	T	C	19: 4,613,271	T412A	probably benign	Het
Ly75	T	C	2: 60,354,550	E420G	probably damaging	Het
Map3k12	T	C	15: 102,505,402	T45A	probably damaging	Het
Mib1	A	C	18: 10,763,289	K446N	probably damaging	Het
Mrpl4	T	C	9: 21,006,935	W146R	probably damaging	Het
Myof	A	G	19: 37,922,978	S1502P	probably damaging	Het
Nomo1	A	G	7: 46,056,668	N482S	probably benign	Het
Olfr1385	G	A	11: 49,494,917	R128H	probably benign	Het
Olfr1411	T	A	1: 92,597,314	M265K	possibly damaging	Het
Olfr1446	A	T	19: 12,890,234	Y114*	probably null	Het
Olfr1458	A	G	19: 13,102,594	S237P	possibly damaging	Het
Olfr935	T	C	9: 38,994,569	I289V	possibly damaging	Het
Osbpl10	C	T	9: 115,109,481	H70Y	probably damaging	Het
Pdilt	A	C	7: 119,495,009	S340A	probably damaging	Het
Ppan	C	A	9: 20,890,992	D226E	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sema3g	G	A	14: 31,228,159	V766M	probably benign	Het
Skint6	T	A	4: 113,156,486	N356I	probably benign	Het
Slco2b1	A	T	7: 99,664,889	S496T	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Umod	G	A	7: 119,466,064	P581S	probably damaging	Het
Zfat	A	G	15: 68,180,191	S585P	probably benign	Het
Zfp472	C	A	17: 32,978,160	T403N	probably benign	Het
Zfp936	A	G	7: 43,190,324	Q405R	possibly 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
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
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'- GTCAGTGGGTAACTCACAGC -3'
(R):5'- AGGCCTAGGGATAAAGCTCCTC -3'

Sequencing Primer
(F):5'- TGGGTAACTCACAGCCCAGC -3'
(R):5'- CTGGTCTACATAGCAAGTTCCAGG -3'

Posted On

2015-07-07