Mutagenetix > Incidental Mutations

Incidental Mutation 'R7396:Trak1'

573831

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121448907 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 353 (T353M)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045903
AA Change: T353M

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T353M

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: ENSMUST00000210351

Predicted Effect

probably benign
Transcript: ENSMUST00000210636

Predicted Effect

probably damaging
Transcript: ENSMUST00000210798
AA Change: T250M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211187
AA Change: T343M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211301
AA Change: T250M

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211439
AA Change: T250M

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
Abcb5	A	G	12: 118,867,874	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,213,661	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,773,829	L185H	probably damaging	Het
Actr1a	G	A	19: 46,379,629	T293I	probably benign	Het
Adig	T	C	2: 158,505,916	L50P	unknown	Het
Ankrd28	A	G	14: 31,702,202	S994P	probably benign	Het
Ankrd35	T	A	3: 96,683,497	D366E	probably damaging	Het
Aqr	A	T	2: 114,119,946	Y927*	probably null	Het
Asxl2	T	A	12: 3,442,529	I38N	probably damaging	Het
Atp9b	T	C	18: 80,736,842	I1092V		Het
B4galnt1	A	G	10: 127,171,616	E462G	possibly damaging	Het
BC048671	T	A	6: 90,303,291	V63E	probably damaging	Het
BC067074	T	A	13: 113,318,990	S523R		Het
Bod1l	A	G	5: 41,831,546	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,461,498	I234L	probably benign	Het
Camk2b	A	C	11: 5,978,432	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,143,745		probably null	Het
Ces1b	G	T	8: 93,063,129	N390K	probably benign	Het
Chpf	T	C	1: 75,475,283	Q671R	probably benign	Het
Dbr1	C	A	9: 99,583,390	N340K	probably damaging	Het
Dram1	T	A	10: 88,340,645	T73S	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efemp1	A	T	11: 28,867,501	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,506,137	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,166,374	N434I	probably benign	Het
Ercc6	C	T	14: 32,569,805	T1042I	probably benign	Het
Etl4	C	T	2: 20,798,638	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,449,023	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,688,886	D344G	probably benign	Het
Fgf15	G	T	7: 144,899,805	V172L	probably benign	Het
Fmod	T	C	1: 134,040,240	V6A	probably benign	Het
Furin	C	A	7: 80,398,114	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207	V297A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Helb	T	C	10: 120,089,571	D967G	probably benign	Het
Hmcn1	T	C	1: 150,563,631	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,233,419	P70Q	not run	Het
Hsd17b1	T	C	11: 101,079,207	V155A	probably damaging	Het
Ireb2	T	A	9: 54,882,333	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,762,447	L397F	probably benign	Het
Lcorl	A	T	5: 45,857,459		probably null	Het
Lgi2	A	T	5: 52,538,411	I402N	probably damaging	Het
Lrat	T	A	3: 82,903,283	R144*	probably null	Het
Mfhas1	G	T	8: 35,590,199	L609F	probably damaging	Het
Mink1	T	A	11: 70,605,168	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,808,415	D1821V	unknown	Het
Myh2	T	C	11: 67,194,728		probably null	Het
Ncor1	T	C	11: 62,343,218	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,566,603	V76M	probably damaging	Het
Neurod4	T	C	10: 130,271,022	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,038,987	D59E	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,307	V205A	probably benign	Het
Olfr531	C	T	7: 140,400,563	R161H	probably benign	Het
Olfr667	C	T	7: 104,916,351	S315N	probably benign	Het
Pcdh15	T	A	10: 74,630,690	V1513D	probably benign	Het
Pclo	C	A	5: 14,539,888	T734K	unknown	Het
Phc2	A	G	4: 128,748,161	R759G	probably benign	Het
Plch1	A	T	3: 63,698,954	N1176K	probably benign	Het
Plec	T	A	15: 76,174,889	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,144,644	T426N	probably benign	Het
Rictor	A	G	15: 6,786,981	T1245A	not run	Het
Rilp	T	C	11: 75,510,886	V164A	probably damaging	Het
Rnf39	A	T	17: 36,947,079	T168S	probably damaging	Het
Rptor	C	G	11: 119,872,355	Q922E	probably benign	Het
Sall1	A	T	8: 89,032,768	L236Q	probably damaging	Het
Skint7	A	G	4: 111,988,127	T379A	probably benign	Het
Spata22	C	A	11: 73,345,876	T336N	probably damaging	Het
Spata31	T	C	13: 64,920,733	S232P	probably benign	Het
Spink5	T	A	18: 43,977,655	C98S	possibly damaging	Het
Stard6	T	C	18: 70,500,435	V171A	possibly damaging	Het
Tex9	A	T	9: 72,480,790		probably null	Het
Traf7	T	C	17: 24,509,545	D621G	probably damaging	Het
Trim68	A	T	7: 102,678,362	Y461*	probably null	Het
Usp1	A	G	4: 98,926,451		probably benign	Het
Vmn2r42	T	A	7: 8,192,642	I502F	probably benign	Het
Wbp4	C	A	14: 79,476,821	G84C	probably damaging	Het
Zfp787	A	G	7: 6,132,107	*382Q	probably null	Het
Zfp831	G	T	2: 174,645,209	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,366,089	A140P	probably benign	Het
Zscan4e	T	A	7: 11,307,075	Y290F	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGCCAGCCTTGTGGATCC -3'
(R):5'- TGCAAACTTTAAAGAAGCAAGCAGC -3'

Sequencing Primer
(F):5'- AGCCTTGTGGATCCAACCC -3'
(R):5'- CTCGCAGGAAAGATGTAGGACC -3'

Posted On

2019-09-13