Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Slitrk1'

680139

Institutional Source

Beutler Lab

Gene Symbol

Slitrk1

Ensembl Gene

ENSMUSG00000075478

Gene Name

SLIT and NTRK-like family, member 1

Synonyms

3200001I04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108908800-108914158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108911707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 524 (I524T)

Ref Sequence

ENSEMBL: ENSMUSP00000097897 (fasta)

Gene Model

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

AlphaFold

Q810C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000100322
AA Change: I524T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: I524T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,716,686	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,653,398		probably null	Het
4932414N04Rik	A	G	2: 68,732,154	D375G	possibly damaging	Het
4932415D10Rik	T	C	10: 82,286,545	T3544A	probably benign	Het
Adad2	C	A	8: 119,612,986	P69Q	probably benign	Het
Adamts3	G	A	5: 89,677,716	T1088I	probably damaging	Het
Ank2	A	G	3: 126,933,071	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,801,737	N475S	probably benign	Het
Barhl2	G	A	5: 106,455,486	T269I	probably benign	Het
Boc	G	A	16: 44,503,568	R157W		Het
Bsn	G	T	9: 108,107,553	P3101T	unknown	Het
Catsperb	C	A	12: 101,520,645	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,810,858	I220K	probably benign	Het
Cd200r3	A	T	16: 44,957,739	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,742,085	D37A	probably damaging	Het
Chek2	A	G	5: 110,865,592		probably benign	Het
Cngb1	A	T	8: 95,263,108	V792D	probably damaging	Het
Cops7a	T	C	6: 124,962,408	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,750,771	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,941,435	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,806,998	T115A	possibly damaging	Het
Dnaic1	G	A	4: 41,625,125	R363H	probably benign	Het
Dnmbp	T	A	19: 43,890,242	Q130L	probably benign	Het
Egfr	A	G	11: 16,911,635	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,254,940	L329Q	probably damaging	Het
Enkur	A	G	2: 21,196,757	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,317,069	I310K	probably damaging	Het
Fga	C	A	3: 83,031,804	N495K	probably benign	Het
Galnt6	T	C	15: 100,703,366	D344G	probably damaging	Het
Gm572	A	G	4: 148,666,833	Q221R	probably benign	Het
Gm6205	G	T	5: 94,683,554	R140L	possibly damaging	Het
Gpa33	G	A	1: 166,146,647	A18T	probably benign	Het
Gpatch11	C	T	17: 78,837,860	T6I	probably benign	Het
Gpr84	T	A	15: 103,309,198	S151C	probably damaging	Het
H2-M11	T	A	17: 36,548,959	Y281*	probably null	Het
Hadh	T	C	3: 131,245,242	N155S	probably benign	Het
Hoxd13	A	G	2: 74,669,922	Y269C		Het
Iars	T	A	13: 49,728,701	C1074S	probably benign	Het
Ibtk	G	T	9: 85,743,404	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,326,318	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,697,615		probably benign	Het
Ipo9	A	C	1: 135,394,213	V593G	probably damaging	Het
Irx3	T	C	8: 91,800,287	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,773,678	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,630,048	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,137,908	D155G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Mob2	A	T	7: 142,009,524	L66Q	probably damaging	Het
Myh1	A	G	11: 67,205,913	S337G	probably benign	Het
Neb	T	C	2: 52,206,247	D1002G	probably benign	Het
Nebl	A	T	2: 17,378,117	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,175,174	S264P	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,321,131	T348A	possibly damaging	Het
Nomo1	A	T	7: 46,072,580	I982F	probably benign	Het
Olfr16	A	G	1: 172,956,619		probably benign	Het
Olfr348	A	T	2: 36,786,609	Y28F	probably benign	Het
Olfr739	T	G	14: 50,424,834	F105C	probably damaging	Het
Olfr936	A	G	9: 39,046,781	F213L	possibly damaging	Het
Palld	A	G	8: 61,550,164		probably null	Het
Pcdh7	A	G	5: 57,721,812	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,892,871	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,878,546	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,688,334	R253H	probably damaging	Het
Prr18	G	A	17: 8,341,644	A211T	probably benign	Het
Ptgs2	A	G	1: 150,104,108	I321M		Het
Rara	G	T	11: 98,970,163	R159L	probably damaging	Het
Rasa4	T	A	5: 136,104,592	I635N	probably benign	Het
Rxfp2	A	T	5: 150,066,423	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,147,871	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,331,008	V313I	probably benign	Het
Scrn3	C	A	2: 73,331,011	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,471,120		probably null	Het
Slc26a10	T	C	10: 127,180,590	Q3R	probably benign	Het
Smcp	T	A	3: 92,584,223	N106Y	unknown	Het
St8sia5	G	A	18: 77,248,476	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,208,164	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,669,735	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,842,713	V320D	probably damaging	Het
Tmem71	T	A	15: 66,532,757	I261L	probably benign	Het
Tns2	T	C	15: 102,111,604	L643P	probably damaging	Het
Upf1	G	A	8: 70,334,165	Q890*	probably null	Het
Usp43	A	T	11: 67,891,481	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,287,094	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,066,270	N343K	probably benign	Het
Vwa8	T	C	14: 79,092,375	S1216P	probably benign	Het
Yars	A	C	4: 129,196,954	D97A	probably damaging	Het
Zer1	G	A	2: 30,111,023	H129Y	probably benign	Het
Zfat	C	T	15: 68,084,555	D1143N	possibly damaging	Het

Other mutations in Slitrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Slitrk1	APN	14	108911837	missense	probably damaging	1.00
IGL00949:Slitrk1	APN	14	108911809	missense	probably damaging	0.98
IGL01556:Slitrk1	APN	14	108913018	missense	probably damaging	1.00
IGL01924:Slitrk1	APN	14	108911239	missense	probably benign	0.08
IGL02389:Slitrk1	APN	14	108912322	missense	probably benign
IGL02619:Slitrk1	APN	14	108911917	missense	probably benign	0.09
IGL02828:Slitrk1	APN	14	108911616	missense	possibly damaging	0.63
R0070:Slitrk1	UTSW	14	108913317	start gained	probably benign
R0135:Slitrk1	UTSW	14	108911629	missense	probably benign	0.00
R0627:Slitrk1	UTSW	14	108912239	missense	probably damaging	1.00
R1529:Slitrk1	UTSW	14	108913277	start codon destroyed	probably benign	0.33
R1661:Slitrk1	UTSW	14	108911927	missense	probably damaging	1.00
R1711:Slitrk1	UTSW	14	108913096	missense	probably benign	0.21
R1960:Slitrk1	UTSW	14	108912190	missense	probably damaging	0.96
R1961:Slitrk1	UTSW	14	108912190	missense	probably damaging	0.96
R4247:Slitrk1	UTSW	14	108912562	missense	possibly damaging	0.95
R4394:Slitrk1	UTSW	14	108911303	missense	probably benign	0.01
R5027:Slitrk1	UTSW	14	108912308	missense	probably benign
R5241:Slitrk1	UTSW	14	108913012	missense	probably benign	0.27
R5599:Slitrk1	UTSW	14	108911812	missense	probably benign	0.00
R5835:Slitrk1	UTSW	14	108911572	missense	possibly damaging	0.94
R6224:Slitrk1	UTSW	14	108912022	missense	probably damaging	1.00
R6489:Slitrk1	UTSW	14	108911303	missense	possibly damaging	0.63
R6504:Slitrk1	UTSW	14	108911697	missense	probably benign	0.14
R7102:Slitrk1	UTSW	14	108912629	missense	probably benign	0.01
R7346:Slitrk1	UTSW	14	108913159	missense	possibly damaging	0.89
R7413:Slitrk1	UTSW	14	108911925	nonsense	probably null
R8005:Slitrk1	UTSW	14	108913265	missense	probably benign	0.30
R8258:Slitrk1	UTSW	14	108911221	missense	probably benign	0.05
R8259:Slitrk1	UTSW	14	108911221	missense	probably benign	0.05
R9136:Slitrk1	UTSW	14	108911549	missense
R9150:Slitrk1	UTSW	14	108911669	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGATCCTCGCATACAGCTGG -3'
(R):5'- AATGTGGAGTACAACGCGATTC -3'

Sequencing Primer
(F):5'- ATACAGCTGGGGGCAGATCTC -3'
(R):5'- GGAGTACAACGCGATTCAGCTC -3'

Posted On

2021-08-31