Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Slitrk3'

332132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slitrk3

Ensembl Gene

ENSMUSG00000048304

Gene Name

SLIT and NTRK-like family, member 3

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

73047265-73057803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73051103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 112 (N112I)

Ref Sequence

ENSEMBL: ENSMUSP00000141236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059407] [ENSMUST00000192477]

AlphaFold

Q810B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000059407
AA Change: N112I

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

SMART Domains

Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: N112I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Blast:LRRNT	44	79	3e-11	BLAST
LRR	101	124	2.08e1	SMART
LRR	125	148	6.05e0	SMART
LRR	149	172	3.97e0	SMART
LRR_TYP	173	196	1.67e-2	SMART
LRR	197	220	2.69e2	SMART
LRRCT	233	283	4.56e-5	SMART
low complexity region	332	350	N/A	INTRINSIC
LRRNT	373	411	4.17e0	SMART
LRR	432	455	1.62e0	SMART
LRR_TYP	456	479	2.61e-4	SMART
LRR	480	503	2.82e0	SMART
LRR_TYP	504	527	6.99e-5	SMART
LRRCT	563	613	3.22e-5	SMART
transmembrane domain	658	680	N/A	INTRINSIC
low complexity region	713	724	N/A	INTRINSIC
low complexity region	836	843	N/A	INTRINSIC
low complexity region	846	858	N/A	INTRINSIC
low complexity region	870	888	N/A	INTRINSIC
Blast:LRRCT	906	943	2e-16	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000192477
AA Change: N112I

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

SMART Domains

Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: N112I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Blast:LRRNT	44	79	3e-11	BLAST
LRR	101	124	2.08e1	SMART
LRR	125	148	6.05e0	SMART
LRR	149	172	3.97e0	SMART
LRR_TYP	173	196	1.67e-2	SMART
LRR	197	220	2.69e2	SMART
LRRCT	233	283	4.56e-5	SMART
low complexity region	332	350	N/A	INTRINSIC
LRRNT	373	411	4.17e0	SMART
LRR	432	455	1.62e0	SMART
LRR_TYP	456	479	2.61e-4	SMART
LRR	480	503	2.82e0	SMART
LRR_TYP	504	527	6.99e-5	SMART
LRRCT	563	613	3.22e-5	SMART
transmembrane domain	658	680	N/A	INTRINSIC
low complexity region	713	724	N/A	INTRINSIC
low complexity region	836	843	N/A	INTRINSIC
low complexity region	846	858	N/A	INTRINSIC
low complexity region	870	888	N/A	INTRINSIC
Blast:LRRCT	906	943	2e-16	BLAST

Coding Region Coverage

Validation Efficiency

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 family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out mice exhibit reduced inhibitory synapse density, decreased miniature inhibitory postsynaptic current frequency and increased susceptibility to spontaneous and pharmacologically-induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,294,842	Y411C	probably damaging	Het
A1bg	A	T	15: 60,921,253	S2T	probably damaging	Het
Adamts13	T	A	2: 26,973,555	W7R	probably benign	Het
Anks6	T	A	4: 47,046,054	D279V	probably damaging	Het
C4bp	A	T	1: 130,639,134	L335Q	probably damaging	Het
Cd109	A	T	9: 78,660,934	K299*	probably null	Het
Cd200r2	A	T	16: 44,909,288	H102L	probably damaging	Het
Col12a1	A	G	9: 79,697,581	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 40,001,997	F380L	probably benign	Het
Deup1	A	G	9: 15,561,370	S549P	probably damaging	Het
Dysf	G	T	6: 84,199,848		probably null	Het
Etaa1	A	T	11: 17,947,825	C166*	probably null	Het
Fam227b	T	C	2: 126,144,325		probably null	Het
Gucy1b2	T	G	14: 62,403,200	Q752P	probably benign	Het
Hal	T	C	10: 93,490,069		probably null	Het
Hao1	C	A	2: 134,554,270	K21N	probably damaging	Het
Itga4	T	C	2: 79,292,050	F536L	probably benign	Het
Lmod3	A	T	6: 97,247,861	I333N	probably damaging	Het
Mgme1	T	A	2: 144,279,516	D297E	probably damaging	Het
Myh2	G	T	11: 67,178,833		probably benign	Het
Myo7a	A	G	7: 98,102,626	M70T	probably damaging	Het
Nav3	T	C	10: 109,852,746	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,455,686	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,185,554		probably benign	Het
Nxn	C	A	11: 76,274,655		probably benign	Het
Pcdhb22	A	T	18: 37,520,132	D551V	probably damaging	Het
Pde4d	A	G	13: 109,936,687	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,338,755	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,283,716	T54A	probably benign	Het
Rif1	T	A	2: 52,121,007	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,139,429	S276P	probably benign	Het
Scaf4	C	A	16: 90,247,281	M601I	unknown	Het
Setd7	T	A	3: 51,550,308	T33S	probably benign	Het
Shroom1	T	A	11: 53,464,094	D280E	probably benign	Het
Slc35f2	G	T	9: 53,798,014		probably null	Het
Spag1	A	G	15: 36,183,821		probably benign	Het
Stx6	C	T	1: 155,201,933		probably benign	Het
Sun1	A	T	5: 139,234,685		probably null	Het
Tbl1xr1	G	A	3: 22,192,268		probably null	Het
Tmc2	T	C	2: 130,261,304	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 193,194,820		probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Trpm1	G	T	7: 64,247,467	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,242,775	E189G	probably benign	Het
Tubd1	T	C	11: 86,555,068		probably benign	Het
Vps13a	T	A	19: 16,752,175	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,803,665	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,567,356	D50G	probably benign	Het
Zfp976	T	A	7: 42,613,685	I243L	unknown	Het

Other mutations in Slitrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Slitrk3	APN	3	73049841	missense	probably damaging	1.00
IGL00990:Slitrk3	APN	3	73050081	missense	probably damaging	1.00
IGL01010:Slitrk3	APN	3	73049273	missense	probably benign	0.14
IGL01299:Slitrk3	APN	3	73049016	missense	probably benign	0.43
IGL01609:Slitrk3	APN	3	73050237	missense	probably damaging	1.00
IGL01881:Slitrk3	APN	3	73049306	missense	probably benign	0.00
IGL01941:Slitrk3	APN	3	73051071	missense	possibly damaging	0.72
IGL02183:Slitrk3	APN	3	73049979	missense	probably damaging	0.97
IGL02187:Slitrk3	APN	3	73050272	missense	probably damaging	1.00
IGL02478:Slitrk3	APN	3	73050713	missense	probably damaging	0.96
IGL02512:Slitrk3	APN	3	73050402	missense	probably benign	0.28
IGL02720:Slitrk3	APN	3	73050768	missense	probably damaging	1.00
IGL03113:Slitrk3	APN	3	73050390	missense	probably benign	0.00
IGL03224:Slitrk3	APN	3	73049930	missense	possibly damaging	0.72
wee	UTSW	3	73050785	missense	probably damaging	1.00
R0233:Slitrk3	UTSW	3	73048577	missense	probably benign	0.00
R0233:Slitrk3	UTSW	3	73048577	missense	probably benign	0.00
R0639:Slitrk3	UTSW	3	73049649	missense	probably benign	0.02
R1448:Slitrk3	UTSW	3	73050341	missense	probably damaging	0.99
R1656:Slitrk3	UTSW	3	73050339	missense	probably damaging	0.98
R1713:Slitrk3	UTSW	3	73049691	missense	probably benign	0.00
R1992:Slitrk3	UTSW	3	73049771	missense	possibly damaging	0.80
R1999:Slitrk3	UTSW	3	73049964	missense	probably benign	0.13
R2359:Slitrk3	UTSW	3	73049345	missense	possibly damaging	0.56
R3083:Slitrk3	UTSW	3	73048595	missense	probably benign	0.00
R3153:Slitrk3	UTSW	3	73048982	nonsense	probably null
R3821:Slitrk3	UTSW	3	73049216	missense	possibly damaging	0.94
R4208:Slitrk3	UTSW	3	73051157	missense	possibly damaging	0.67
R4323:Slitrk3	UTSW	3	73050785	missense	probably damaging	1.00
R4580:Slitrk3	UTSW	3	73051206	missense	probably damaging	0.96
R4730:Slitrk3	UTSW	3	73049519	missense	probably benign	0.08
R4742:Slitrk3	UTSW	3	73048565	missense	probably benign	0.00
R4979:Slitrk3	UTSW	3	73049796	missense	possibly damaging	0.95
R5018:Slitrk3	UTSW	3	73050512	missense	probably benign	0.31
R5023:Slitrk3	UTSW	3	73050648	missense	probably benign	0.24
R5057:Slitrk3	UTSW	3	73050648	missense	probably benign	0.24
R5156:Slitrk3	UTSW	3	73049259	missense	probably benign
R5500:Slitrk3	UTSW	3	73050347	missense	probably damaging	1.00
R5582:Slitrk3	UTSW	3	73050404	missense	probably benign	0.09
R5797:Slitrk3	UTSW	3	73048629	missense	probably damaging	0.99
R5963:Slitrk3	UTSW	3	73050713	missense	probably benign	0.30
R5985:Slitrk3	UTSW	3	73050900	missense	probably damaging	1.00
R6123:Slitrk3	UTSW	3	73049762	missense	probably damaging	1.00
R6393:Slitrk3	UTSW	3	73049914	missense	possibly damaging	0.79
R6529:Slitrk3	UTSW	3	73051218	missense	probably benign	0.02
R6584:Slitrk3	UTSW	3	73049225	missense	probably damaging	0.99
R6645:Slitrk3	UTSW	3	73049861	missense	probably benign	0.13
R7001:Slitrk3	UTSW	3	73050609	nonsense	probably null
R7282:Slitrk3	UTSW	3	73050465	missense	possibly damaging	0.70
R7534:Slitrk3	UTSW	3	73050107	missense	probably damaging	0.98
R7577:Slitrk3	UTSW	3	73051115	missense	probably damaging	0.99
R7757:Slitrk3	UTSW	3	73050839	missense	probably damaging	1.00
R8251:Slitrk3	UTSW	3	73049396	missense	possibly damaging	0.67
R8354:Slitrk3	UTSW	3	73049180	missense	probably benign	0.08
R8454:Slitrk3	UTSW	3	73049180	missense	probably benign	0.08
R8488:Slitrk3	UTSW	3	73051187	missense	probably benign	0.02
R8491:Slitrk3	UTSW	3	73051259	missense	possibly damaging	0.89
R8843:Slitrk3	UTSW	3	73048831	missense	probably benign	0.04
R9140:Slitrk3	UTSW	3	73050459	missense	probably benign	0.02
R9451:Slitrk3	UTSW	3	73051283	missense	possibly damaging	0.83
R9511:Slitrk3	UTSW	3	73050939	missense	possibly damaging	0.46
R9575:Slitrk3	UTSW	3	73048794	missense	probably benign	0.00
R9589:Slitrk3	UTSW	3	73050648	missense	probably benign	0.24
R9603:Slitrk3	UTSW	3	73051316	missense	probably benign	0.00
X0022:Slitrk3	UTSW	3	73050266	missense	probably damaging	1.00
Z1176:Slitrk3	UTSW	3	73048770	missense	probably benign	0.09
Z1177:Slitrk3	UTSW	3	73049142	missense	probably benign	0.00

Posted On

2015-08-05