Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Trak1'

636992

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R8226 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121451727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 394 (T394I)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: T394I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: T394I

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: ENSMUST00000210351

Predicted Effect

probably benign
Transcript: ENSMUST00000210798
AA Change: T291I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211187
AA Change: T384I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000211301
AA Change: T291I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000211439
AA Change: T291I

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,218,199	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,821,390	Y315N	probably damaging	Het
Acy1	A	G	9: 106,437,658	I22T	probably damaging	Het
Akap11	G	A	14: 78,511,209	T1246M		Het
Akr1b3	G	C	6: 34,311,932	T114R	probably damaging	Het
Apob	G	A	12: 8,009,056	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,871,745	D820N	probably damaging	Het
Arl2	A	T	19: 6,137,476		probably null	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp5	C	T	9: 75,776,324	P78S	probably damaging	Het
Cic	T	C	7: 25,287,788	C1374R	probably damaging	Het
Dennd5b	T	C	6: 149,014,248		probably null	Het
Dhx36	A	G	3: 62,470,570	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,795,545	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,904,255	Y946C	probably benign	Het
Egfem1	A	G	3: 29,657,255	K328E	probably damaging	Het
F5	T	C	1: 164,194,390	V1478A	probably benign	Het
Fchsd2	C	T	7: 101,282,472	P745L	probably damaging	Het
Gm15448	A	C	7: 3,825,110	L66R		Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Grb10	G	T	11: 11,951,533	L214M	probably damaging	Het
H6pd	A	G	4: 149,995,989	V133A	probably benign	Het
Irak4	T	A	15: 94,558,363	L277Q	probably damaging	Het
Krt78	A	T	15: 101,947,045	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,639,735	H93R		Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Mga	A	G	2: 119,960,385	I2251V	probably benign	Het
Mtx3	A	G	13: 92,847,707	E164G	possibly damaging	Het
Nbeal1	A	T	1: 60,277,177	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,691,935	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588	K380M	probably damaging	Het
Nup107	T	C	10: 117,757,931	K786E	probably benign	Het
Olfr1024	T	C	2: 85,904,203	I284V	probably benign	Het
Olfr110	A	T	17: 37,498,669	Q6L	probably benign	Het
Olfr560	T	C	7: 102,753,743	Y62C	probably benign	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Pkhd1l1	A	G	15: 44,574,407	N3533D	possibly damaging	Het
Plpp1	A	T	13: 112,866,931	T230S	probably benign	Het
Plxnc1	A	C	10: 94,833,368	D1063E	possibly damaging	Het
Prokr2	C	A	2: 132,374,041	A167S	probably damaging	Het
Qser1	C	T	2: 104,788,725	A491T	probably benign	Het
Rc3h2	T	A	2: 37,376,989	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 33,932,527	L182F	possibly damaging	Het
Rnf130	T	C	11: 50,071,270	V181A	probably benign	Het
Scd4	A	G	19: 44,334,133	D55G	probably benign	Het
Scn7a	T	G	2: 66,700,860	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,448,250		probably null	Het
Shtn1	T	C	19: 59,003,896	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,256,220	E60D	possibly damaging	Het
Tex14	T	C	11: 87,484,759	I116T	probably damaging	Het
Trhde	C	T	10: 114,567,228	V497M	probably damaging	Het
Trpc2	A	G	7: 102,088,275	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,947,973	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,931,710	G410S	probably benign	Het
Usp28	T	G	9: 49,015,397		probably null	Het
Vps13d	T	C	4: 145,149,290	Y1555C		Het
Wdr17	T	A	8: 54,693,120	N106Y	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
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
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'- CATGGCTTGGCAGATTCTCTC -3'
(R):5'- TAGTGAGCTCCAGCCTTAGAG -3'

Sequencing Primer
(F):5'- TGTATGGCATGAAGTCTGGAGAC -3'
(R):5'- TCCAGCCTTAGAGAGATGTCACTG -3'

Posted On

2020-07-13