Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Trak1'

235895

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

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

Stock #

R2137 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121472962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 928 (M928K)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045903
AA Change: M928K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: M928K

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

0.2067

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,646,309	T88I	probably damaging	Het
Atm	A	T	9: 53,453,375	V49D	probably damaging	Het
Bub1b	G	T	2: 118,636,718	E841*	probably null	Het
Ccdc129	A	G	6: 55,889,189	Q189R	probably damaging	Het
Cdh22	G	A	2: 165,116,394		probably benign	Het
Cdh7	A	T	1: 110,100,106	N527I	probably damaging	Het
Cog1	T	C	11: 113,659,301	L262P	probably damaging	Het
Col22a1	T	C	15: 72,006,948	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,433,749	S890P	probably benign	Het
Cubn	T	C	2: 13,336,167	I2248V	probably benign	Het
Evpl	T	C	11: 116,221,839	E1675G	probably damaging	Het
Faiml	G	A	9: 99,232,492	P115S	probably benign	Het
Fgg	A	T	3: 83,008,438	D62V	possibly damaging	Het
Gak	C	T	5: 108,606,877		probably null	Het
Galntl6	C	T	8: 58,535,905		probably null	Het
Glyr1	T	C	16: 5,018,482	Y501C	probably benign	Het
Gm9847	G	T	12: 14,495,081		noncoding transcript	Het
Gria4	T	G	9: 4,427,026		probably benign	Het
Il1f8	A	G	2: 24,154,660	N24S	probably benign	Het
Il6st	C	A	13: 112,502,858	H606N	possibly damaging	Het
Kctd10	A	G	5: 114,367,328	F202L	probably damaging	Het
Kif17	T	A	4: 138,262,667	D55E	probably damaging	Het
Klf1	C	T	8: 84,903,146	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275	Y497*	probably null	Het
Kng2	G	T	16: 22,997,326		probably benign	Het
Lats1	T	C	10: 7,701,847	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,444,958	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,997,331	V332D	possibly damaging	Het
Mss51	T	C	14: 20,487,523	I47V	probably benign	Het
Myoz2	G	A	3: 123,034,212	T19M	probably benign	Het
Nampt	T	A	12: 32,830,310	N67K	probably benign	Het
Ncor2	A	T	5: 125,030,712	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,563,738	Q7R	probably damaging	Het
Olfr1475	A	G	19: 13,479,809	Y130H	probably damaging	Het
Olfr1480	T	A	19: 13,530,438	I255N	probably damaging	Het
Olfr870	T	A	9: 20,171,167	I135F	probably damaging	Het
Pgm1	A	T	5: 64,116,366	M565L	probably benign	Het
Phactr1	T	G	13: 43,135,175	F639V	possibly damaging	Het
Plod3	C	A	5: 136,988,717	R165S	probably damaging	Het
Polr2b	T	A	5: 77,320,346	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,162,051	G52S	probably damaging	Het
Rfc1	A	G	5: 65,311,039		probably null	Het
Rheb	A	G	5: 24,807,603		probably null	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor2	G	A	13: 24,721,834		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scg3	A	T	9: 75,676,810	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,007,580	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,281,379	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,344,492	D505V	probably benign	Het
Snap29	C	A	16: 17,428,249	D244E	possibly damaging	Het
Taar1	T	C	10: 23,921,270	F289L	probably benign	Het
Thbs2	T	A	17: 14,673,306	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,499,963	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,670,802		probably null	Het
Tuba3b	A	G	6: 145,618,833	I110V	probably benign	Het
Tyk2	A	G	9: 21,110,985		probably benign	Het
Ugt1a9	T	A	1: 88,071,037	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,003,544	I68K	possibly damaging	Het
Wfs1	T	C	5: 36,967,501	E682G	probably damaging	Het
Zfp213	T	C	17: 23,559,507		probably null	Het
Zfp809	T	C	9: 22,235,138	V41A	probably benign	Het
Zfp831	A	G	2: 174,705,746	K1574R	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
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

PCR Primer
(F):5'- ATCCCCACCTTGACTGAGGAAC -3'
(R):5'- AGGTCCCCAAGTCCTGTATACAC -3'

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

Posted On

2014-10-01