Mutagenetix > Incidental Mutation

Incidental Mutation 'R3720:Trak2'

258839

Institutional Source

Beutler Lab

Gene Symbol

Trak2

Ensembl Gene

ENSMUSG00000026028

Gene Name

trafficking protein, kinesin binding 2

Synonyms

GRIF-1, 4733401O11Rik, GRIF1, OIP98, CALS-C, 2900022D04Rik, Als2cr3

MMRRC Submission

040711-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3720 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58900449-58973430 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 58946245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027186] [ENSMUST00000173590] [ENSMUST00000174120]

AlphaFold

Q6P9N8

Predicted Effect

probably null
Transcript: ENSMUST00000027186

SMART Domains

Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	48	353	2.5e-135	PFAM
Pfam:Milton	426	565	3e-26	PFAM
low complexity region	663	673	N/A	INTRINSIC
low complexity region	693	714	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173590

SMART Domains

Protein: ENSMUSP00000134499
Gene: ENSMUSG00000026028

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	2	52	9.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173719

Predicted Effect

probably null
Transcript: ENSMUST00000174120

SMART Domains

Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	47	354	1.3e-129	PFAM
Pfam:Milton	411	565	1.1e-41	PFAM

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Atp2c1	A	T	9: 105,422,976	M708K	probably damaging	Het
C9	A	G	15: 6,483,119	T241A	possibly damaging	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cntnap5c	T	C	17: 58,330,202	S1025P	probably benign	Het
Col8a1	T	C	16: 57,626,916	M744V	unknown	Het
Cstf3	A	G	2: 104,653,086		probably benign	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Glt6d1	ACCC	ACCCC	2: 25,795,167		probably null	Het
Gm10717	A	G	9: 3,025,532	Y39C	probably benign	Het
Hivep1	C	T	13: 42,158,601	T1439I	probably benign	Het
Iqgap2	T	C	13: 95,668,528		probably null	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kif1c	T	C	11: 70,703,771	F86L	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ldb1	C	T	19: 46,044,892		probably benign	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Med23	T	C	10: 24,891,120	L369S	probably damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myo1b	G	T	1: 51,776,346	H614N	possibly damaging	Het
Neurl1b	C	T	17: 26,414,975	T4M	probably damaging	Het
Olfr1095	T	C	2: 86,851,591	T36A	probably benign	Het
Olfr129	T	C	17: 38,055,368	Y66C	probably damaging	Het
Polg	G	A	7: 79,456,791	Q163*	probably null	Het
Pramef8	A	G	4: 143,419,379	T473A	probably benign	Het
Sdk2	G	A	11: 113,800,244	P1835L	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Snx31	T	C	15: 36,523,558		probably null	Het
Speg	A	T	1: 75,426,782	H2590L	probably damaging	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Swap70	A	G	7: 110,270,047	E349G	probably damaging	Het
Sybu	A	G	15: 44,672,632	V766A	possibly damaging	Het
Tns3	G	A	11: 8,492,999	R455W	probably damaging	Het
Tnxb	T	A	17: 34,712,964	V2157E	possibly damaging	Het
Trav18	C	T	14: 53,831,617	R39C	possibly damaging	Het
Uroc1	G	A	6: 90,346,355	V352M	probably damaging	Het
Zfp106	A	C	2: 120,534,599	I442M	probably benign	Het
Zfp935	G	A	13: 62,455,032	Q98*	probably null	Het

Other mutations in Trak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Trak2	APN	1	58923607	missense	probably damaging	1.00
IGL01982:Trak2	APN	1	58926655	missense	possibly damaging	0.94
IGL02154:Trak2	APN	1	58908729	missense	probably damaging	1.00
IGL02399:Trak2	APN	1	58910045	missense	probably benign	0.00
IGL02732:Trak2	APN	1	58910063	missense	probably benign	0.19
IGL02734:Trak2	APN	1	58910063	missense	probably benign	0.19
IGL03147:Trak2	UTSW	1	58910063	missense	probably benign	0.19
P0041:Trak2	UTSW	1	58909964	missense	probably damaging	1.00
R0079:Trak2	UTSW	1	58926724	missense	probably damaging	1.00
R0791:Trak2	UTSW	1	58903661	missense	probably benign
R0792:Trak2	UTSW	1	58903661	missense	probably benign
R1099:Trak2	UTSW	1	58921841	missense	probably benign	0.05
R1899:Trak2	UTSW	1	58946336	start codon destroyed	probably null	0.98
R1903:Trak2	UTSW	1	58918855	splice site	probably null
R2292:Trak2	UTSW	1	58935757	missense	probably damaging	0.99
R2312:Trak2	UTSW	1	58935782	missense	probably damaging	1.00
R4966:Trak2	UTSW	1	58919321	missense	probably damaging	1.00
R5088:Trak2	UTSW	1	58935808	missense	probably benign	0.06
R5730:Trak2	UTSW	1	58921807	missense	probably damaging	1.00
R5840:Trak2	UTSW	1	58919273	missense	probably damaging	1.00
R5981:Trak2	UTSW	1	58908690	missense	probably benign	0.01
R6000:Trak2	UTSW	1	58911812	missense	possibly damaging	0.71
R6053:Trak2	UTSW	1	58904069	missense	possibly damaging	0.62
R6894:Trak2	UTSW	1	58911733	missense	probably damaging	1.00
R6916:Trak2	UTSW	1	58910025	missense	probably benign	0.06
R7096:Trak2	UTSW	1	58903590	missense	probably damaging	1.00
R7544:Trak2	UTSW	1	58921068	splice site	probably null
R7847:Trak2	UTSW	1	58935818	missense	possibly damaging	0.88
R7889:Trak2	UTSW	1	58918824	missense	probably damaging	1.00
R8039:Trak2	UTSW	1	58946288	missense	probably benign	0.16
R8313:Trak2	UTSW	1	58921147	nonsense	probably null
R8728:Trak2	UTSW	1	58935775	missense	probably benign	0.01
R8930:Trak2	UTSW	1	58935808	missense	probably benign
R8932:Trak2	UTSW	1	58935808	missense	probably benign
R9263:Trak2	UTSW	1	58946322	missense	probably benign	0.01
R9291:Trak2	UTSW	1	58903899	missense	probably damaging	1.00
R9404:Trak2	UTSW	1	58921137	missense	possibly damaging	0.53
X0067:Trak2	UTSW	1	58908532	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CTGCACAGAAGGCAGACTTTG -3'
(R):5'- ATGTCACCTGACTCATCGCAG -3'

Sequencing Primer
(F):5'- ACTTTGCTAATGTGAGAGGAGAC -3'
(R):5'- GACCACGCCCATTTCTTTACTAAATG -3'

Posted On

2015-01-23