Mutagenetix > Incidental Mutation

Incidental Mutation 'R8300:Trak1'

639210

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?

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

Stock #

R8300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 121460499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 626 (E626*)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably null
Transcript: ENSMUST00000045903
AA Change: E626*

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: E626*

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 null
Transcript: ENSMUST00000209446
AA Change: E147*

Predicted Effect

probably null
Transcript: ENSMUST00000210798
AA Change: E523*

Predicted Effect

probably null
Transcript: ENSMUST00000211187
AA Change: E616*

Predicted Effect

probably null
Transcript: ENSMUST00000211301
AA Change: E523*

Predicted Effect

probably benign
Transcript: ENSMUST00000211439

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	A	T	2: 28,462,423	Y109*	probably null	Het
6430531B16Rik	A	T	7: 139,977,178	I98N	probably damaging	Het
AB124611	A	G	9: 21,526,265	M1V	probably null	Het
Abca12	T	A	1: 71,313,964	N773I	possibly damaging	Het
Adh7	A	G	3: 138,224,064	E167G	probably damaging	Het
Ank2	T	A	3: 127,010,906	D622V		Het
Asf1b	T	A	8: 83,969,176	F149I	possibly damaging	Het
Bach1	T	C	16: 87,719,108	V179A	probably benign	Het
C1ra	C	T	6: 124,521,638	A430V	probably benign	Het
Cacna1c	T	A	6: 118,598,756	Q1944L		Het
Camkk1	T	C	11: 73,027,440	V158A	probably benign	Het
Ccdc152	T	C	15: 3,298,152	T48A	probably benign	Het
Cd180	A	T	13: 102,704,793	M116L	probably benign	Het
Clca2	C	T	3: 145,098,931	G12R	probably benign	Het
Coq8b	T	C	7: 27,242,246	V252A	possibly damaging	Het
Cp	A	G	3: 19,957,221		probably benign	Het
Ctsj	A	T	13: 61,002,471	V238E	probably damaging	Het
Ctsj	C	T	13: 61,002,472	V238I	probably damaging	Het
Cxcr2	A	T	1: 74,159,174	M276L	probably benign	Het
Drd5	T	C	5: 38,320,329	S222P	probably damaging	Het
Egflam	T	C	15: 7,254,451	D269G	possibly damaging	Het
Fbn2	C	T	18: 58,209,615	R64Q	probably benign	Het
Fyb2	A	T	4: 105,000,492	K622M	probably damaging	Het
Gm10220	T	C	5: 26,117,820	E198G	probably damaging	Het
Gm1527	A	T	3: 28,926,595	N615Y	possibly damaging	Het
Gpatch3	A	G	4: 133,579,829	H308R	probably damaging	Het
Gsdmc4	A	G	15: 63,894,941	I261T	probably damaging	Het
Gsg1	T	G	6: 135,237,582	T310P	probably benign	Het
Hecw2	T	C	1: 53,887,616	S1075G	probably null	Het
Hyal6	A	G	6: 24,734,088	T7A	probably benign	Het
Ighv1-59	T	G	12: 115,335,367	Q22H	probably damaging	Het
Lyst	T	A	13: 13,664,058	M1853K	possibly damaging	Het
Mccc1	A	T	3: 35,963,604	M649K	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nek4	A	G	14: 30,970,395	D399G		Het
Obscn	T	C	11: 59,043,070	K5323E	probably benign	Het
Olfr414	T	A	1: 174,430,534	Y35*	probably null	Het
Paics	T	C	5: 76,961,406	V196A	probably damaging	Het
Pced1a	C	A	2: 130,424,237		probably benign	Het
Pik3cb	A	G	9: 99,046,658	V848A	probably damaging	Het
Ppm1h	T	A	10: 122,782,213	N92K	probably damaging	Het
Ppp1r16b	T	A	2: 158,746,651	I152N	probably damaging	Het
Pramel7	A	G	2: 87,489,623	M442T	probably benign	Het
Prex2	A	T	1: 11,231,718	N1415I	possibly damaging	Het
Pum3	T	C	19: 27,422,373	K220R	probably benign	Het
Qrich2	G	T	11: 116,456,349	D1216E	probably benign	Het
Rbbp8	T	A	18: 11,705,776		silent	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rimbp2	C	T	5: 128,797,771	R252Q	probably damaging	Het
Rnpep	T	C	1: 135,283,659	H117R	probably benign	Het
Serpinb10	A	G	1: 107,546,726	D206G	probably benign	Het
Sh3tc1	C	T	5: 35,697,448	V1302M	probably benign	Het
Slmap	T	C	14: 26,418,219	E780G	possibly damaging	Het
Snrpg	T	A	6: 86,376,576	V46E	probably damaging	Het
Sptbn5	T	A	2: 120,047,577	Q953L	noncoding transcript	Het
Stard9	C	T	2: 120,704,769	L3836F	possibly damaging	Het
Tcerg1	T	A	18: 42,550,072	M619K	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem57	A	G	4: 134,828,451	I237T	probably benign	Het
Tnfrsf9	C	T	4: 150,933,099	T137M	probably damaging	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trio	G	T	15: 27,855,022	H750Q	possibly damaging	Het
U2af2	T	C	7: 5,067,415		probably benign	Het
Vmn2r3	T	C	3: 64,274,926	I451V	probably benign	Het
Zfp930	A	T	8: 69,228,346	N230I	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
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
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'- AGCTGCCATGCTAACTCTCC -3'
(R):5'- TTTACAGGACTAATCGAGGCG -3'

Sequencing Primer
(F):5'- ATGCTAACTCTCCCTTCTCTTGG -3'
(R):5'- ACTAATCGAGGCGCCCTC -3'

Posted On

2020-07-28