Mutagenetix > Incidental Mutation

Incidental Mutation 'R4630:Trak1'

349125

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

041895-MU

Accession Numbers

Essential gene?

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

Stock #

R4630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121454425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 419 (R419Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148026 (fasta)

Gene Model

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

AlphaFold

Q6PD31

Predicted Effect

probably benign
Transcript: ENSMUST00000045903
AA Change: R522Q

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

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: R522Q

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

unknown
Transcript: ENSMUST00000209446
AA Change: R43Q

Predicted Effect

probably benign
Transcript: ENSMUST00000210798
AA Change: R419Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211187
AA Change: R512Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000211301
AA Change: R419Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211439
AA Change: R419Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211699

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
3110001I22Rik	T	C	16: 13,677,414	S126P	probably damaging	Het
3110070M22Rik	A	T	13: 119,488,086		probably benign	Het
4833423E24Rik	C	A	2: 85,518,646	G41*	probably null	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC024139	T	G	15: 76,125,094	Q240P	probably benign	Het
Bckdha	A	T	7: 25,631,459	I44N	probably damaging	Het
Brpf1	T	C	6: 113,309,906	Y32H	probably damaging	Het
Catip	A	G	1: 74,368,913		probably benign	Het
Ccdc138	T	C	10: 58,573,655	L602P	probably damaging	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Comp	A	T	8: 70,374,382	I58F	possibly damaging	Het
Crygs	T	C	16: 22,805,518	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,670,315	R319*	probably null	Het
Eif3a	A	G	19: 60,769,928	I804T	unknown	Het
Eif3a	A	T	19: 60,777,986	H301Q	probably benign	Het
Elf3	A	T	1: 135,256,740		probably benign	Het
Gm10384	A	G	15: 36,871,773		noncoding transcript	Het
Gm11627	T	A	11: 102,578,831		probably benign	Het
Gpr183	A	T	14: 121,954,849	Y87N	probably damaging	Het
Gpr183	G	C	14: 121,954,850	Y86*	probably null	Het
Gpr26	T	C	7: 131,966,980	V18A	probably damaging	Het
Herc1	T	A	9: 66,433,714		probably null	Het
Hint2	C	T	4: 43,656,396		probably benign	Het
Jag1	A	T	2: 137,085,979	D837E	probably damaging	Het
Jmjd1c	C	A	10: 67,157,974	S78*	probably null	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lama1	T	A	17: 67,794,300	D1929E	probably benign	Het
Macf1	T	C	4: 123,473,639	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,123,954	S182P	probably damaging	Het
Muc5b	A	T	7: 141,857,984	T1556S	unknown	Het
Myo1g	T	C	11: 6,519,047	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,179,233		probably null	Het
Nox3	T	C	17: 3,693,982	D96G	possibly damaging	Het
Olfr23	T	C	11: 73,940,996	L250P	probably damaging	Het
Olfr514	T	C	7: 108,825,595	M135V	probably damaging	Het
Olfr805	A	G	10: 129,723,481	L21P	probably damaging	Het
Pacs1	C	T	19: 5,156,356		probably null	Het
Pgm5	C	A	19: 24,834,746	G141*	probably null	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pld4	T	A	12: 112,765,064	V217D	probably damaging	Het
Ppp1r3c	T	C	19: 36,733,515	E285G	probably benign	Het
Pradc1	T	A	6: 85,447,293	M24L	possibly damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Rmi2	C	T	16: 10,886,209	T138I	probably benign	Het
Rtkn	A	T	6: 83,152,182	K540*	probably null	Het
Sag	C	A	1: 87,834,618	T335K	probably damaging	Het
Setd4	A	G	16: 93,591,226	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,379,409	D208G	probably damaging	Het
Sult4a1	T	C	15: 84,105,578	T8A	possibly damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,839,240	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,392	L164P	probably damaging	Het
Tmem246	C	G	4: 49,586,254	V305L	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trp53bp1	G	T	2: 121,207,887	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,775,377		probably benign	Het
Tyw5	T	A	1: 57,388,527	Q306L	probably damaging	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zar1	A	G	5: 72,580,906	V51A	probably benign	Het
Zbtb38	T	G	9: 96,688,851	N60T	probably damaging	Het
Zfp354a	T	C	11: 51,070,218	S417P	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,912,979	Q451*	probably null	Het
Zfp64	T	C	2: 168,926,543	N383S	possibly damaging	Het
Zfp687	A	T	3: 95,012,488		probably null	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
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'- TCAGTTGAGACCCACAGAGG -3'
(R):5'- CTTCGAGTGGCTTCACGATCTG -3'

Sequencing Primer
(F):5'- AGGGAACTCCTTCAGTGGCTG -3'
(R):5'- ACGATCTGCAGCTTCTCGG -3'

Posted On

2015-10-08