Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Trak1'

555648

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4468001 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

121297502-121474918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121453332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 436 (S436P)

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: S436P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044482
Gene: ENSMUSG00000032536
AA Change: S436P

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 damaging
Transcript: ENSMUST00000210798
AA Change: S333P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211187
AA Change: S426P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211301
AA Change: S333P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211439
AA Change: S333P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940	L34F	probably damaging	Het
Alms1	T	C	6: 85,624,719		probably null	Het
Arhgap15	C	A	2: 44,243,131	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,906,162	H35L	probably benign	Het
Cep85	T	C	4: 134,148,697	N468S	probably damaging	Het
Chd8	A	C	14: 52,207,996	D1709E	probably benign	Het
Chd8	T	C	14: 52,217,881	I1050V	possibly damaging	Het
Clec9a	G	A	6: 129,419,634		probably null	Het
Cyp2c70	T	A	19: 40,165,362	D261V	probably damaging	Het
Deup1	T	C	9: 15,564,005	N420D	possibly damaging	Het
Dpys	T	A	15: 39,857,205	D53V	probably damaging	Het
Edem1	A	G	6: 108,844,867	E295G	probably damaging	Het
Farp2	G	T	1: 93,528,777	E61*	probably null	Het
Fat3	T	G	9: 15,996,351	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,290,956	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,091,082	P93Q	unknown	Het
Gm21976	A	T	13: 98,307,027	R229*	probably null	Het
Gpr108	A	T	17: 57,247,563	L25Q	probably null	Het
Hdac9	C	A	12: 34,095,934	V920F	unknown	Het
Ighv13-2	T	C	12: 114,357,973	S49G	probably benign	Het
Krt6a	T	C	15: 101,693,917	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463	S775P	possibly damaging	Het
Mki67	A	G	7: 135,699,147	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,912,812	E352G	probably damaging	Het
Nfya	A	G	17: 48,395,777	M61T	unknown	Het
Ntn4	A	G	10: 93,644,725	T104A	probably damaging	Het
Numb	G	A	12: 83,808,147	T135I	probably damaging	Het
Olfr1030	A	T	2: 85,984,448	T203S	probably benign	Het
Olfr1271	C	A	2: 90,266,220	C70F	probably benign	Het
Olfr599	A	C	7: 103,338,600	E182A	probably damaging	Het
Parpbp	A	C	10: 88,144,073	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,356,633	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,747,883	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,739,474	C785*	probably null	Het
Pkd1l3	A	G	8: 109,664,499	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,767,822	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,838,702	I350N	probably benign	Het
Rc3h2	C	A	2: 37,399,639	G387V	probably damaging	Het
Rfwd3	T	C	8: 111,282,720	H408R	probably benign	Het
Rpl3l	A	G	17: 24,735,483	T173A	probably benign	Het
Sdad1	T	C	5: 92,291,918	D416G	probably damaging	Het
Srp72	C	A	5: 76,994,206	T430K	probably benign	Het
Steap1	C	A	5: 5,736,642	G265V	probably damaging	Het
Sulf2	A	T	2: 166,080,800	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,742,388	D16V	probably damaging	Het
Tmem100	T	A	11: 90,035,361	S5T	probably benign	Het
Tnc	C	A	4: 63,964,667	D1906Y	probably damaging	Het
Ttyh1	T	C	7: 4,119,772	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 33,621,541	S275C	probably benign	Het
Umodl1	A	G	17: 30,959,278	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,043,007	T222M	probably benign	Het
Usp42	T	A	5: 143,714,644	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,839,598	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,478,050	L164R	probably damaging	Het
Vwa8	G	T	14: 79,183,061	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,169,832	R117L	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
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
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'- TCCCTAAGGAGCATGTGAGG -3'
(R):5'- GAGCCCATGTTCAAGGTGTATC -3'

Sequencing Primer
(F):5'- GAGCTAGCTCCAGGTTCATC -3'
(R):5'- AAGGTGTATCTCCTCCCCCAAC -3'

Posted On

2019-06-07