Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Slitrk1'

522688

Institutional Source

Beutler Lab

Gene Symbol

Slitrk1

Ensembl Gene

ENSMUSG00000075478

Gene Name

SLIT and NTRK-like family, member 1

Synonyms

3200001I04Rik

MMRRC Submission

044621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109147420-109151671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109148735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 659 (S659T)

Ref Sequence

ENSEMBL: ENSMUSP00000097897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100322]

AlphaFold

Q810C1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100322
AA Change: S659T

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: S659T

Domain	Start	End	E-Value	Type
LRR	81	104	1.37e2	SMART
LRR	105	128	1.37e1	SMART
LRR	129	152	4.57e0	SMART
LRR_TYP	153	176	2.75e-3	SMART
LRR	180	200	1.92e2	SMART
LRRCT	212	262	3.45e-5	SMART
LRRNT	340	376	4.28e0	SMART
LRR	374	397	1.86e1	SMART
LRR	398	421	1.49e1	SMART
LRR	422	445	2.68e1	SMART
LRR	446	469	4.98e-1	SMART
LRR_TYP	470	493	6.52e-5	SMART
LRR	494	517	3.46e2	SMART
LRRCT	529	579	3.91e-4	SMART
transmembrane domain	621	643	N/A	INTRINSIC

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,145 (GRCm39)	T650A	probably benign	Het
Alkbh7	T	A	17: 57,305,979 (GRCm39)	S127T	probably damaging	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
App	G	T	16: 84,853,408 (GRCm39)	D223E	unknown	Het
Arhgef2	C	A	3: 88,550,321 (GRCm39)	S675R	probably damaging	Het
Atg14	T	C	14: 47,786,480 (GRCm39)	D258G	probably damaging	Het
Calhm5	A	T	10: 33,968,502 (GRCm39)	W184R	probably damaging	Het
Cbr1b	A	T	16: 93,427,286 (GRCm39)		probably null	Het
Ckap2l	T	C	2: 129,111,034 (GRCm39)	D721G	possibly damaging	Het
Cog8	T	C	8: 107,776,933 (GRCm39)	T481A	probably benign	Het
Colec10	C	A	15: 54,325,609 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,521,009 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,332,389 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,592,270 (GRCm39)	M935T	probably damaging	Het
Dsg4	T	A	18: 20,604,420 (GRCm39)	N962K	possibly damaging	Het
Dym	T	C	18: 75,213,297 (GRCm39)	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,395,131 (GRCm39)	Y583C	probably damaging	Het
Flnb	G	A	14: 7,867,551 (GRCm38)	V103M	probably damaging	Het
Fzd1	T	A	5: 4,807,336 (GRCm39)	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855 (GRCm39)	I474V	probably benign	Het
Galnt11	G	T	5: 25,469,964 (GRCm39)	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,738,127 (GRCm39)	V420A	probably benign	Het
H1f7	A	T	15: 98,154,888 (GRCm39)	L87*	probably null	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Ihh	T	A	1: 74,985,670 (GRCm39)	T272S	probably damaging	Het
Il27ra	T	C	8: 84,758,179 (GRCm39)	M524V	probably benign	Het
Mdp1	C	A	14: 55,897,848 (GRCm39)		probably benign	Het
Med12l	A	G	3: 59,164,828 (GRCm39)	K1436R	probably damaging	Het
Megf10	C	T	18: 57,424,879 (GRCm39)	S1006F	probably benign	Het
Miga1	A	T	3: 151,984,645 (GRCm39)	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,537,963 (GRCm39)	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,370,101 (GRCm39)	S2673G	possibly damaging	Het
Nup93	T	A	8: 95,028,716 (GRCm39)	H193Q	probably benign	Het
Or1e25	T	A	11: 73,494,265 (GRCm39)	N286K	probably damaging	Het
Or4f7	A	C	2: 111,644,405 (GRCm39)	L222W	probably damaging	Het
Or52ae9	T	C	7: 103,389,875 (GRCm39)	N191D	probably benign	Het
Pdcd11	C	T	19: 47,098,191 (GRCm39)	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,662,907 (GRCm39)	R521*	probably null	Het
Phf2	T	C	13: 48,979,658 (GRCm39)	S158G	unknown	Het
Pla2g15	A	G	8: 106,889,826 (GRCm39)	E366G	probably benign	Het
Plekhm2	A	T	4: 141,359,344 (GRCm39)	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,639,890 (GRCm39)	M87K	probably damaging	Het
Rbm19	T	G	5: 120,258,195 (GRCm39)	S137A	probably benign	Het
Ryr2	T	A	13: 11,848,893 (GRCm39)	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896 (GRCm39)	T122A	probably benign	Het
Scn4a	G	C	11: 106,240,006 (GRCm39)	D70E	probably benign	Het
Slc12a3	T	A	8: 95,061,632 (GRCm39)	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,140,615 (GRCm39)	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,339,762 (GRCm39)	C9*	probably null	Het
Son	T	G	16: 91,452,044 (GRCm39)	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066 (GRCm39)	G1326V	probably damaging	Het
Tcf12	A	G	9: 71,922,918 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,645,062 (GRCm39)	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574 (GRCm39)		probably null	Het
Utp15	G	T	13: 98,387,117 (GRCm39)	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,382,219 (GRCm39)		probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,301,558 (GRCm39)	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,346,637 (GRCm39)	I1672T	possibly damaging	Het

Other mutations in Slitrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Slitrk1	APN	14	109,149,269 (GRCm39)	missense	probably damaging	1.00
IGL00949:Slitrk1	APN	14	109,149,241 (GRCm39)	missense	probably damaging	0.98
IGL01556:Slitrk1	APN	14	109,150,450 (GRCm39)	missense	probably damaging	1.00
IGL01924:Slitrk1	APN	14	109,148,671 (GRCm39)	missense	probably benign	0.08
IGL02389:Slitrk1	APN	14	109,149,754 (GRCm39)	missense	probably benign
IGL02619:Slitrk1	APN	14	109,149,349 (GRCm39)	missense	probably benign	0.09
IGL02828:Slitrk1	APN	14	109,149,048 (GRCm39)	missense	possibly damaging	0.63
R0070:Slitrk1	UTSW	14	109,150,749 (GRCm39)	start gained	probably benign
R0135:Slitrk1	UTSW	14	109,149,061 (GRCm39)	missense	probably benign	0.00
R0627:Slitrk1	UTSW	14	109,149,671 (GRCm39)	missense	probably damaging	1.00
R1529:Slitrk1	UTSW	14	109,150,709 (GRCm39)	start codon destroyed	probably benign	0.33
R1661:Slitrk1	UTSW	14	109,149,359 (GRCm39)	missense	probably damaging	1.00
R1711:Slitrk1	UTSW	14	109,150,528 (GRCm39)	missense	probably benign	0.21
R1960:Slitrk1	UTSW	14	109,149,622 (GRCm39)	missense	probably damaging	0.96
R1961:Slitrk1	UTSW	14	109,149,622 (GRCm39)	missense	probably damaging	0.96
R4247:Slitrk1	UTSW	14	109,149,994 (GRCm39)	missense	possibly damaging	0.95
R4394:Slitrk1	UTSW	14	109,148,735 (GRCm39)	missense	probably benign	0.01
R5027:Slitrk1	UTSW	14	109,149,740 (GRCm39)	missense	probably benign
R5241:Slitrk1	UTSW	14	109,150,444 (GRCm39)	missense	probably benign	0.27
R5599:Slitrk1	UTSW	14	109,149,244 (GRCm39)	missense	probably benign	0.00
R5835:Slitrk1	UTSW	14	109,149,004 (GRCm39)	missense	possibly damaging	0.94
R6224:Slitrk1	UTSW	14	109,149,454 (GRCm39)	missense	probably damaging	1.00
R6504:Slitrk1	UTSW	14	109,149,129 (GRCm39)	missense	probably benign	0.14
R7102:Slitrk1	UTSW	14	109,150,061 (GRCm39)	missense	probably benign	0.01
R7346:Slitrk1	UTSW	14	109,150,591 (GRCm39)	missense	possibly damaging	0.89
R7413:Slitrk1	UTSW	14	109,149,357 (GRCm39)	nonsense	probably null
R8005:Slitrk1	UTSW	14	109,150,697 (GRCm39)	missense	probably benign	0.30
R8258:Slitrk1	UTSW	14	109,148,653 (GRCm39)	missense	probably benign	0.05
R8259:Slitrk1	UTSW	14	109,148,653 (GRCm39)	missense	probably benign	0.05
R8906:Slitrk1	UTSW	14	109,149,139 (GRCm39)	missense	probably damaging	0.99
R9136:Slitrk1	UTSW	14	109,148,981 (GRCm39)	missense
R9150:Slitrk1	UTSW	14	109,149,101 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACGCTAGATCTGGGTCAATG -3'
(R):5'- AAAACAGCACTGGGTTGGC -3'

Sequencing Primer
(F):5'- ACGCTAGATCTGGGTCAATGTTCTC -3'
(R):5'- ACTGGGTTGGCGGAGAC -3'

Posted On

2018-06-06