Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Trak1'

349290

Institutional Source

Beutler Lab

Gene Symbol

Trak1

Ensembl Gene

ENSMUSG00000032536

Gene Name

trafficking protein, kinesin binding 1

Synonyms

hyrt, 2310001H13Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

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

Stock #

R4632 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473	V44A	probably benign	Het
Abr	C	T	11: 76,509,019	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382		probably null	Het
Agbl1	A	G	7: 76,413,685	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275	T309M	probably damaging	Het
C6	A	T	15: 4,759,868	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366		probably null	Het
Hykk	T	C	9: 54,946,516	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Krt13	A	G	11: 100,121,224	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129		probably null	Het
Lrriq1	C	T	10: 103,221,427	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128	F413L	probably benign	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044		probably null	Het
Ppm1e	G	A	11: 87,231,530	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Samd12	T	A	15: 53,719,671	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760	V211E	probably benign	Het
Setx	C	T	2: 29,148,615	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368	C186*	probably null	Het
Timp2	C	T	11: 118,303,772	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038	D245G	probably benign	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981	F501S	probably 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
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'- TTCGAGTGGCTTCACGATC -3'

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

Posted On

2015-10-08