Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Trak1'

551943

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 #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121460498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 625 (F625L)

Ref Sequence

ENSEMBL: ENSMUSP00000044482 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: F625L

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

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: F625L

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: ENSMUST00000210798
AA Change: F522L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211187
AA Change: F615L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211301
AA Change: F522L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211439

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,481,867	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,052,673	A81V	probably benign	Het
Actr3	A	C	1: 125,403,432	Y273*	probably null	Het
Aoc1	T	A	6: 48,906,597	I469N	probably damaging	Het
Arhgef28	A	T	13: 97,944,539	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,420,186	Q780*	probably null	Het
Bbs10	T	C	10: 111,299,449	V141A	possibly damaging	Het
Bivm	A	T	1: 44,126,446	T19S	probably benign	Het
Cacna1h	T	G	17: 25,391,507	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919	L1204F	probably damaging	Het
Cald1	T	C	6: 34,686,076		probably null	Het
Calr	A	G	8: 84,842,828	M357T	probably damaging	Het
Ccni	A	T	5: 93,183,331	Y260*	probably null	Het
Csrnp3	C	A	2: 66,023,010	T594K	probably damaging	Het
Dek	A	T	13: 47,100,183	M152K	unknown	Het
Depdc1b	T	C	13: 108,362,247	W155R	probably benign	Het
Ehd1	A	G	19: 6,297,561	K315R	probably benign	Het
Epn3	C	A	11: 94,492,428	R323S	probably benign	Het
Fam57b	T	C	7: 126,829,333	L221P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533	K891*	probably null	Het
Fras1	G	T	5: 96,752,960	G3013*	probably null	Het
Gbp2b	A	G	3: 142,606,746	T297A	probably benign	Het
Gbp7	T	C	3: 142,543,973	S402P	probably damaging	Het
Gclc	T	C	9: 77,786,750	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,087,393	H655R	probably benign	Het
Gm4787	C	A	12: 81,378,486	M299I	probably benign	Het
Grb7	C	A	11: 98,454,991	R532S	probably benign	Het
Hmcn1	A	T	1: 150,700,541	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,034,057	T518A	probably benign	Het
Hps3	G	A	3: 20,011,541	R712W	probably damaging	Het
Hspd1	A	G	1: 55,079,229	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,220,526	F61L	probably benign	Het
Iqcf5	G	A	9: 106,515,796	R84H	probably damaging	Het
Itgad	T	A	7: 128,173,974	M1K	probably null	Het
Kmt2d	A	G	15: 98,861,065	S1292P	unknown	Het
Macc1	C	A	12: 119,445,745	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,271,467	A359E	probably damaging	Het
Mfap3	T	A	11: 57,528,217	C68S	probably damaging	Het
Mipep	C	T	14: 60,875,247	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,135,813	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,308,697	N913S	probably damaging	Het
N4bp1	C	A	8: 86,860,867	C481F	probably benign	Het
Nae1	A	G	8: 104,526,278		probably null	Het
Nup214	T	A	2: 32,051,042	V29E	probably benign	Het
Olfr251	T	C	9: 38,378,649	L250P	probably damaging	Het
Olfr390	A	T	11: 73,787,114	M59L	probably damaging	Het
Orai1	A	G	5: 123,029,472	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,681,294	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,474,678	D77G	possibly damaging	Het
Pcdha8	G	A	18: 36,993,787	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plaa	A	G	4: 94,582,682	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,070,939	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,168,238	E92G	probably damaging	Het
Ptpn9	T	C	9: 57,059,882	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,872,056	E337A	probably benign	Het
Rubcn	C	T	16: 32,836,469	R527Q	probably damaging	Het
Samd3	C	T	10: 26,230,966	T73M	possibly damaging	Het
Sfxn4	T	A	19: 60,852,039	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Son	T	G	16: 91,670,526	N2258K	unknown	Het
Sspo	A	T	6: 48,465,571	H2000L	probably benign	Het
Syne1	C	T	10: 5,293,971	S2731N	probably benign	Het
Syt6	T	C	3: 103,587,357	Y213H	probably damaging	Het
Tkt	A	G	14: 30,559,822	N99S	probably benign	Het
Tmem258	G	A	19: 10,204,238		probably benign	Het
Tnks1bp1	T	C	2: 85,072,097	S1702P	probably damaging	Het
Tpte	A	G	8: 22,327,673	D225G	probably damaging	Het
Ttc33	G	T	15: 5,212,007	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,200,800	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,578,019	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,828,435	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,808,638	D39E	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
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'- AGCTGCCATGCTAACTCTC -3'
(R):5'- TTACAGGACTAATCGAGGCGC -3'

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

Posted On

2019-05-15