Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Slitrk1'

326557

Institutional Source

Beutler Lab

Gene Symbol

Slitrk1

Ensembl Gene

ENSMUSG00000075478

Gene Name

SLIT and NTRK-like family, member 1

Synonyms

3200001I04Rik

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109147420-109151671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109148735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 659 (S659A)

Ref Sequence

ENSEMBL: ENSMUSP00000097897 (fasta)

Gene Model

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

AlphaFold

Q810C1

Predicted Effect

probably benign
Transcript: ENSMUST00000100322
AA Change: S659A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: S659A

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

0.0649

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	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
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
R6489:Slitrk1	UTSW	14	109,148,735 (GRCm39)	missense	possibly damaging	0.63
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'- GGGTCAATGTTCTCCCACTC -3'
(R):5'- AAAACAGCACTGGGTTGGC -3'

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

Posted On

2015-07-06