Mutagenetix > Incidental Mutation

Incidental Mutation 'R6224:Slitrk1'

504218

Institutional Source

Beutler Lab

Gene Symbol

Slitrk1

Ensembl Gene

ENSMUSG00000075478

Gene Name

SLIT and NTRK-like family, member 1

Synonyms

3200001I04Rik

MMRRC Submission

044355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109147420-109151671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109149454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 419 (F419S)

Ref Sequence

ENSEMBL: ENSMUSP00000097897 (fasta)

Gene Model

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

AlphaFold

Q810C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000100322
AA Change: F419S

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

SMART Domains

Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: F419S

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

0.9678

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	C	11: 99,728,840 (GRCm39)	M1R	probably null	Het
4930505A04Rik	A	C	11: 30,404,815 (GRCm39)	N29K	probably benign	Het
Adamtsl4	T	C	3: 95,589,039 (GRCm39)	Y464C	probably damaging	Het
Asgr2	T	C	11: 69,989,072 (GRCm39)	V172A	probably damaging	Het
Atad1	T	C	19: 32,676,028 (GRCm39)	Y132C	probably damaging	Het
Bpifa6	G	A	2: 153,829,073 (GRCm39)	R200H	probably damaging	Het
Brd1	A	T	15: 88,572,558 (GRCm39)	M1171K	possibly damaging	Het
Cadm2	A	T	16: 66,461,281 (GRCm39)	L392Q	probably damaging	Het
Ccdc183	C	T	2: 25,500,594 (GRCm39)	E333K	possibly damaging	Het
Cenpe	T	C	3: 134,949,536 (GRCm39)	I1335T	possibly damaging	Het
Cpxm2	T	C	7: 131,745,460 (GRCm39)	N122D	probably benign	Het
Crls1	T	A	2: 132,691,770 (GRCm39)		probably null	Het
Cyp46a1	T	C	12: 108,327,819 (GRCm39)	F460S	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcps	T	A	9: 35,047,777 (GRCm39)	T128S	probably benign	Het
Dcun1d3	A	T	7: 119,458,714 (GRCm39)	L107*	probably null	Het
Eml1	T	C	12: 108,480,767 (GRCm39)	F397S	probably damaging	Het
Fanca	T	A	8: 124,032,020 (GRCm39)	H348L	possibly damaging	Het
Foxo1	T	A	3: 52,253,093 (GRCm39)	S419T	probably benign	Het
Gli3	T	C	13: 15,899,730 (GRCm39)	V1039A	probably benign	Het
Gng14	A	T	8: 85,794,220 (GRCm39)	*73R	probably null	Het
Gp6	A	T	7: 4,397,211 (GRCm39)	F75I	probably benign	Het
Gpha2	T	A	19: 6,277,142 (GRCm39)	I81N	possibly damaging	Het
Gspt1	C	A	16: 11,042,406 (GRCm39)	V493L	probably benign	Het
Igsf10	C	A	3: 59,232,931 (GRCm39)	C1934F	probably damaging	Het
Irgm1	T	C	11: 48,757,713 (GRCm39)	T49A	probably benign	Het
Klc4	A	G	17: 46,950,988 (GRCm39)	I207T	possibly damaging	Het
Krt1	A	T	15: 101,758,702 (GRCm39)	V154D	possibly damaging	Het
Lama1	T	C	17: 68,109,982 (GRCm39)	V2201A	possibly damaging	Het
Lilrb4a	T	A	10: 51,367,745 (GRCm39)	Y96N	probably damaging	Het
Lrfn2	A	G	17: 49,403,379 (GRCm39)	T501A	probably damaging	Het
Lrriq1	A	G	10: 103,051,618 (GRCm39)	I378T	probably damaging	Het
Mphosph8	T	C	14: 56,905,810 (GRCm39)	M1T	probably null	Het
Nsd1	T	C	13: 55,460,945 (GRCm39)	S2391P	possibly damaging	Het
Ogdhl	G	A	14: 32,064,018 (GRCm39)	G647D	probably benign	Het
Or5p57	T	C	7: 107,665,949 (GRCm39)	I19V	probably benign	Het
Or6c76b	A	G	10: 129,693,061 (GRCm39)	K225E	probably benign	Het
Pbrm1	T	A	14: 30,772,068 (GRCm39)	H387Q	probably benign	Het
Pdgfrb	C	A	18: 61,215,011 (GRCm39)	Y1013*	probably null	Het
Pitrm1	T	C	13: 6,615,090 (GRCm39)	V562A	probably damaging	Het
Pnpla8	T	C	12: 44,329,811 (GRCm39)	V121A	possibly damaging	Het
Psd4	T	C	2: 24,291,569 (GRCm39)	L639P	probably damaging	Het
Psmc3	G	T	2: 90,884,975 (GRCm39)	R47L	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sesn2	A	G	4: 132,229,881 (GRCm39)	V50A	probably benign	Het
Skic3	C	T	13: 76,266,410 (GRCm39)	T219M	probably benign	Het
Slc6a16	G	A	7: 44,910,572 (GRCm39)	G377S	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,854,134 (GRCm39)		probably benign	Homo
Tgoln1	A	T	6: 72,592,984 (GRCm39)	D165E	possibly damaging	Het
Tmprss15	T	A	16: 78,821,266 (GRCm39)	T492S	probably benign	Het
Zc3h13	T	A	14: 75,574,849 (GRCm39)	M1565K	probably damaging	Het
Zcwpw1	T	C	5: 137,810,298 (GRCm39)	V358A	possibly damaging	Het
Zfp607a	A	G	7: 27,578,007 (GRCm39)	H359R	probably damaging	Het
Zzef1	T	A	11: 72,746,209 (GRCm39)	V837E	probably 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
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'- AGGGACCTCAGCAAGTTGTTG -3'
(R):5'- GCTCAGGCTTAAAGATGAACTGTAAC -3'

Sequencing Primer
(F):5'- GTTGAGAATAAGAATCCTCAGTTTCG -3'
(R):5'- GCTTAAAGATGAACTGTAACAACCG -3'

Posted On

2018-02-28