Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Trak1'

600056

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

045849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R7793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 121416198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 46 (C46*)

Ref Sequence

ENSEMBL: ENSMUSP00000147624 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536

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

probably benign
Transcript: ENSMUST00000209995

Predicted Effect

probably benign
Transcript: ENSMUST00000210351

Predicted Effect

probably benign
Transcript: ENSMUST00000210636

Predicted Effect

probably benign
Transcript: ENSMUST00000210798

Predicted Effect

probably null
Transcript: ENSMUST00000211187
AA Change: C46*

Predicted Effect

probably benign
Transcript: ENSMUST00000211301

Predicted Effect

probably benign
Transcript: ENSMUST00000211439

Meta Mutation Damage Score

0.9345

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,699,943 (GRCm38)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,942,935 (GRCm38)	V143M	probably benign	Het
2610507B11Rik	C	T	11: 78,273,205 (GRCm38)	P1124L	possibly damaging	Het
Abca1	T	C	4: 53,042,367 (GRCm38)	I1902V	not run	Het
AI314180	T	C	4: 58,853,150 (GRCm38)	N395S	probably damaging	Het
Apob	A	C	12: 8,008,124 (GRCm38)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 65,009,924 (GRCm38)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,824,507 (GRCm38)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,338,743 (GRCm38)		probably null	Het
Bcl9l	C	A	9: 44,509,697 (GRCm38)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,508,966 (GRCm38)	M1223T	probably benign	Het
Brinp3	A	G	1: 146,746,568 (GRCm38)	N236S	probably benign	Het
Cckbr	T	G	7: 105,433,591 (GRCm38)	L54V	probably benign	Het
Cd6	G	A	19: 10,798,358 (GRCm38)	Q246*	probably null	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,055,661 (GRCm38)		probably null	Het
Cgnl1	T	A	9: 71,725,635 (GRCm38)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,898,735 (GRCm38)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,356,140 (GRCm38)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,278,583 (GRCm38)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,495,214 (GRCm38)	T981A	probably benign	Het
Dnah8	A	G	17: 30,855,944 (GRCm38)	I4546V	probably benign	Het
E2f8	A	C	7: 48,878,075 (GRCm38)	F106L	probably benign	Het
Eif4g1	G	A	16: 20,688,614 (GRCm38)	V1413I	probably benign	Het
Epha10	G	A	4: 124,914,453 (GRCm38)	V688I	probably benign	Het
Exoc2	A	T	13: 30,911,178 (GRCm38)	V245D	probably benign	Het
Eya4	T	A	10: 23,226,816 (GRCm38)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,847,387 (GRCm38)	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,047,501 (GRCm38)	G44S	probably benign	Het
Gabrg3	T	A	7: 57,179,580 (GRCm38)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,315,867 (GRCm38)	I78M	possibly damaging	Het
Gm35339	T	C	15: 76,359,107 (GRCm38)	L989P		Het
Gm3854	C	T	7: 6,353,887 (GRCm38)	S233L	probably damaging	Het
Gm7298	T	C	6: 121,760,604 (GRCm38)		probably null	Het
Hpse2	A	T	19: 43,388,070 (GRCm38)	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,471,764 (GRCm38)	H3R	probably benign	Het
Kansl1l	T	C	1: 66,778,014 (GRCm38)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm38)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 80,022,858 (GRCm38)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,773,065 (GRCm38)	R70C	probably damaging	Het
Mx2	T	A	16: 97,546,883 (GRCm38)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,965,132 (GRCm38)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,245,400 (GRCm38)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,725,074 (GRCm38)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,423,918 (GRCm38)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,891,581 (GRCm38)	R363W	probably benign	Het
Olfr139	T	A	11: 74,044,788 (GRCm38)	H162L	possibly damaging	Het
Olfr361	A	G	2: 37,084,921 (GRCm38)	F276L	possibly damaging	Het
Otud7b	A	T	3: 96,155,211 (GRCm38)	Y589F	probably benign	Het
P2rx1	T	A	11: 73,009,253 (GRCm38)	C165*	probably null	Het
Pax8	T	C	2: 24,429,597 (GRCm38)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,106,432 (GRCm38)	V552I	probably benign	Het
Pde6c	G	T	19: 38,159,753 (GRCm38)	C485F	possibly damaging	Het
Pex5	T	C	6: 124,399,341 (GRCm38)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,462,509 (GRCm38)		probably null	Het
Prss2	A	T	6: 41,524,952 (GRCm38)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,002,979 (GRCm38)	N440S	probably benign	Het
Psmb3	T	A	11: 97,712,439 (GRCm38)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,307,801 (GRCm38)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,416,820 (GRCm38)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 69,796,831 (GRCm38)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,789,695 (GRCm38)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,494,578 (GRCm38)	Y24F	probably benign	Het
Sdha	A	T	13: 74,331,436 (GRCm38)	V432E	probably damaging	Het
Sez6	T	C	11: 77,977,600 (GRCm38)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,447,825 (GRCm38)	I466V	probably benign	Het
Skor1	T	C	9: 63,144,885 (GRCm38)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,005,779 (GRCm38)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,225,626 (GRCm38)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,849,409 (GRCm38)	D333G	probably damaging	Het
Spp1	G	A	5: 104,440,334 (GRCm38)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,540,388 (GRCm38)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,623,113 (GRCm38)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,864,377 (GRCm38)	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,619,167 (GRCm38)	K346R	probably benign	Het
Tgm3	G	A	2: 130,012,410 (GRCm38)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm38)	L88F	unknown	Het
Trim8	A	T	19: 46,515,614 (GRCm38)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,824,075 (GRCm38)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,764,310 (GRCm38)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,399,159 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,732,045 (GRCm38)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,211,880 (GRCm38)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,263,668 (GRCm38)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm38)	N1188K	unknown	Het
Utp6	C	T	11: 79,937,730 (GRCm38)	V528I	probably benign	Het
Vmn1r78	T	C	7: 12,153,314 (GRCm38)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,632,269 (GRCm38)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,477,544 (GRCm38)	M451T	probably benign	Het
Vwf	C	T	6: 125,686,520 (GRCm38)	P2808L		Het
Wwc1	T	C	11: 35,869,109 (GRCm38)	Q693R	probably benign	Het
Zfp658	T	A	7: 43,574,684 (GRCm38)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 71,913,141 (GRCm38)	D8G	probably damaging	Het

Other mutations in Trak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Trak1	APN	9	121,443,736 (GRCm38)	critical splice donor site	probably null
IGL01335:Trak1	APN	9	121,454,316 (GRCm38)	missense	possibly damaging	0.58
IGL01777:Trak1	APN	9	121,431,560 (GRCm38)	splice site	probably null
IGL01804:Trak1	APN	9	121,442,685 (GRCm38)	splice site	probably benign
IGL01986:Trak1	APN	9	121,472,967 (GRCm38)	missense	probably benign	0.00
IGL02248:Trak1	APN	9	121,446,794 (GRCm38)	missense	probably damaging	1.00
IGL02276:Trak1	APN	9	121,451,668 (GRCm38)	missense	probably damaging	1.00
IGL02556:Trak1	APN	9	121,448,901 (GRCm38)	missense	probably damaging	1.00
IGL03368:Trak1	APN	9	121,367,122 (GRCm38)	missense	possibly damaging	0.66
PIT4468001:Trak1	UTSW	9	121,453,332 (GRCm38)	missense	probably benign	0.18
R0067:Trak1	UTSW	9	121,472,907 (GRCm38)	missense	probably damaging	1.00
R0276:Trak1	UTSW	9	121,454,338 (GRCm38)	missense	probably damaging	0.97
R0535:Trak1	UTSW	9	121,443,712 (GRCm38)	missense	probably null	1.00
R0629:Trak1	UTSW	9	121,367,167 (GRCm38)	missense	probably benign	0.37
R0671:Trak1	UTSW	9	121,448,955 (GRCm38)	critical splice donor site	probably null
R0883:Trak1	UTSW	9	121,453,285 (GRCm38)	missense	possibly damaging	0.90
R1160:Trak1	UTSW	9	121,392,007 (GRCm38)	missense	probably benign	0.01
R1162:Trak1	UTSW	9	121,453,341 (GRCm38)	missense	possibly damaging	0.93
R1168:Trak1	UTSW	9	121,440,679 (GRCm38)	missense	probably damaging	1.00
R1398:Trak1	UTSW	9	121,454,359 (GRCm38)	missense	probably damaging	1.00
R2118:Trak1	UTSW	9	121,472,997 (GRCm38)	makesense	probably null
R2119:Trak1	UTSW	9	121,472,997 (GRCm38)	makesense	probably null
R2120:Trak1	UTSW	9	121,472,997 (GRCm38)	makesense	probably null
R2137:Trak1	UTSW	9	121,472,962 (GRCm38)	missense	possibly damaging	0.83
R3162:Trak1	UTSW	9	121,451,734 (GRCm38)	splice site	probably benign
R3888:Trak1	UTSW	9	121,442,797 (GRCm38)	splice site	probably null
R3889:Trak1	UTSW	9	121,445,873 (GRCm38)	missense	probably null	0.40
R4031:Trak1	UTSW	9	121,451,670 (GRCm38)	missense	probably damaging	1.00
R4116:Trak1	UTSW	9	121,448,843 (GRCm38)	missense	probably damaging	1.00
R4406:Trak1	UTSW	9	121,431,536 (GRCm38)	missense	probably damaging	1.00
R4630:Trak1	UTSW	9	121,454,425 (GRCm38)	missense	probably benign	0.02
R4631:Trak1	UTSW	9	121,454,425 (GRCm38)	missense	probably benign	0.02
R4632:Trak1	UTSW	9	121,454,425 (GRCm38)	missense	probably benign	0.02
R4786:Trak1	UTSW	9	121,472,494 (GRCm38)	missense	probably benign	0.25
R5137:Trak1	UTSW	9	121,367,055 (GRCm38)	intron	probably benign
R5159:Trak1	UTSW	9	121,460,412 (GRCm38)	missense	probably damaging	0.99
R5467:Trak1	UTSW	9	121,446,798 (GRCm38)	missense	probably damaging	1.00
R5661:Trak1	UTSW	9	121,443,637 (GRCm38)	missense	possibly damaging	0.46
R5664:Trak1	UTSW	9	121,472,307 (GRCm38)	missense	possibly damaging	0.47
R5769:Trak1	UTSW	9	121,448,838 (GRCm38)	missense	probably damaging	1.00
R6041:Trak1	UTSW	9	121,460,412 (GRCm38)	missense	probably damaging	0.99
R6257:Trak1	UTSW	9	121,367,224 (GRCm38)	missense	possibly damaging	0.92
R6257:Trak1	UTSW	9	121,446,755 (GRCm38)	missense	probably damaging	1.00
R6354:Trak1	UTSW	9	121,451,726 (GRCm38)	missense	probably null	0.03
R6399:Trak1	UTSW	9	121,453,496 (GRCm38)	splice site	probably null
R6513:Trak1	UTSW	9	121,443,756 (GRCm38)	missense	probably benign
R6579:Trak1	UTSW	9	121,443,638 (GRCm38)	missense	probably benign	0.29
R6940:Trak1	UTSW	9	121,443,718 (GRCm38)	missense	possibly damaging	0.78
R7120:Trak1	UTSW	9	121,460,498 (GRCm38)	missense	probably benign
R7299:Trak1	UTSW	9	121,451,863 (GRCm38)	splice site	probably null
R7304:Trak1	UTSW	9	121,416,212 (GRCm38)	missense	probably benign
R7396:Trak1	UTSW	9	121,448,907 (GRCm38)	missense	possibly damaging	0.71
R7522:Trak1	UTSW	9	121,442,711 (GRCm38)	missense	probably damaging	0.99
R7657:Trak1	UTSW	9	121,472,586 (GRCm38)	missense	probably damaging	1.00
R7733:Trak1	UTSW	9	121,367,225 (GRCm38)	missense	possibly damaging	0.92
R7999:Trak1	UTSW	9	121,460,425 (GRCm38)	missense	probably damaging	1.00
R8209:Trak1	UTSW	9	121,451,727 (GRCm38)	missense	probably benign
R8215:Trak1	UTSW	9	121,469,030 (GRCm38)	missense	probably damaging	1.00
R8226:Trak1	UTSW	9	121,451,727 (GRCm38)	missense	probably benign
R8261:Trak1	UTSW	9	121,451,667 (GRCm38)	missense	probably damaging	1.00
R8300:Trak1	UTSW	9	121,460,499 (GRCm38)	nonsense	probably null
R8914:Trak1	UTSW	9	121,443,781 (GRCm38)	missense	unknown
R9072:Trak1	UTSW	9	121,460,488 (GRCm38)	missense	probably damaging	1.00
R9073:Trak1	UTSW	9	121,460,488 (GRCm38)	missense	probably damaging	1.00
R9312:Trak1	UTSW	9	121,451,691 (GRCm38)	missense	probably benign	0.01
R9366:Trak1	UTSW	9	121,472,512 (GRCm38)	missense	probably damaging	1.00
R9663:Trak1	UTSW	9	121,391,858 (GRCm38)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CTGCTATTCCAACAGGTGCTC -3'
(R):5'- AATCTTGCCTGGCTGGACAC -3'

Sequencing Primer
(F):5'- AGGTCCTGTGAGCCACTCTG -3'
(R):5'- TTGCCTGGCTGGACACTAACAG -3'

Posted On

2019-11-26