Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03113:Slitrk3'

419261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slitrk3

Ensembl Gene

ENSMUSG00000048304

Gene Name

SLIT and NTRK-like family, member 3

Synonyms

ST3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

IGL03113

Quality Score

Status

Chromosome

Chromosomal Location

72954598-72965136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72957723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 350 (Q350K)

Ref Sequence

ENSEMBL: ENSMUSP00000141236 (fasta)

Gene Model

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

AlphaFold

Q810B9

Predicted Effect

probably benign
Transcript: ENSMUST00000059407
AA Change: Q350K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: Q350K

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 benign
Transcript: ENSMUST00000192477
AA Change: Q350K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: Q350K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apof	G	A	10: 128,105,568 (GRCm39)	V241M	probably benign	Het
Arhgef10	T	A	8: 15,004,505 (GRCm39)	I91N	probably damaging	Het
Arhgef17	G	A	7: 100,578,938 (GRCm39)	T670I	probably benign	Het
Barhl1	T	C	2: 28,805,468 (GRCm39)	D75G	probably benign	Het
Capn13	T	C	17: 73,638,108 (GRCm39)	T432A	probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc175	C	A	12: 72,191,557 (GRCm39)	V340L	probably benign	Het
Cdc5l	A	T	17: 45,744,348 (GRCm39)	M5K	possibly damaging	Het
Cgn	A	G	3: 94,686,544 (GRCm39)	F253L	probably benign	Het
Csmd1	T	C	8: 16,078,712 (GRCm39)	K2003R	probably benign	Het
Disp2	T	A	2: 118,621,259 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,472,163 (GRCm39)	N3535D	possibly damaging	Het
Exoc3	G	A	13: 74,341,232 (GRCm39)	Q191*	probably null	Het
Fstl5	T	A	3: 76,337,099 (GRCm39)	Y219*	probably null	Het
Gad2	T	A	2: 22,571,367 (GRCm39)	L435Q	probably benign	Het
Gcnt3	A	G	9: 69,941,983 (GRCm39)	V195A	probably damaging	Het
Haus6	G	A	4: 86,501,343 (GRCm39)	Q843*	probably null	Het
Hivep2	T	A	10: 14,006,395 (GRCm39)	F998I	probably damaging	Het
Hsf5	A	T	11: 87,548,190 (GRCm39)	E624D	probably benign	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klhl6	T	A	16: 19,776,001 (GRCm39)	S186C	possibly damaging	Het
Klk15	T	C	7: 43,587,805 (GRCm39)	F78L	probably benign	Het
Ldlr	A	G	9: 21,651,124 (GRCm39)	E514G	possibly damaging	Het
Map9	T	A	3: 82,267,285 (GRCm39)		probably benign	Het
Miga2	A	T	2: 30,274,022 (GRCm39)	I99F	possibly damaging	Het
Morc4	T	C	X: 138,758,605 (GRCm39)	E189G	probably benign	Het
Nhlrc3	A	T	3: 53,365,984 (GRCm39)	Y170N	possibly damaging	Het
Or3a1b	G	A	11: 74,012,529 (GRCm39)	R138Q	probably benign	Het
Or4c111	A	G	2: 88,844,379 (GRCm39)	F10L	probably damaging	Het
Or51b6b	A	T	7: 103,309,851 (GRCm39)	V202D	possibly damaging	Het
Or52u1	A	T	7: 104,237,940 (GRCm39)	R310W	probably benign	Het
Or5o1	T	A	X: 48,815,939 (GRCm39)	N291Y	probably damaging	Het
Or5w15	T	C	2: 87,568,506 (GRCm39)	Q54R	probably benign	Het
Or8g32	A	C	9: 39,305,981 (GRCm39)	K295T	probably damaging	Het
Pkd1l1	G	A	11: 8,784,793 (GRCm39)	T1997I	probably benign	Het
Poln	A	G	5: 34,274,206 (GRCm39)	S377P	probably benign	Het
Rab22a	T	A	2: 173,503,265 (GRCm39)	V26E	probably damaging	Het
Rhbdl3	T	C	11: 80,244,439 (GRCm39)	V382A	possibly damaging	Het
Sult1d1	A	T	5: 87,707,738 (GRCm39)	Y127*	probably null	Het
Vmn1r73	A	T	7: 11,490,527 (GRCm39)	Y115F	probably benign	Het
Zfp128	T	A	7: 12,624,314 (GRCm39)	D227E	probably benign	Het

Other mutations in Slitrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Slitrk3	APN	3	72,958,436 (GRCm39)	missense	probably damaging	1.00
IGL00857:Slitrk3	APN	3	72,957,174 (GRCm39)	missense	probably damaging	1.00
IGL00990:Slitrk3	APN	3	72,957,414 (GRCm39)	missense	probably damaging	1.00
IGL01010:Slitrk3	APN	3	72,956,606 (GRCm39)	missense	probably benign	0.14
IGL01299:Slitrk3	APN	3	72,956,349 (GRCm39)	missense	probably benign	0.43
IGL01609:Slitrk3	APN	3	72,957,570 (GRCm39)	missense	probably damaging	1.00
IGL01881:Slitrk3	APN	3	72,956,639 (GRCm39)	missense	probably benign	0.00
IGL01941:Slitrk3	APN	3	72,958,404 (GRCm39)	missense	possibly damaging	0.72
IGL02183:Slitrk3	APN	3	72,957,312 (GRCm39)	missense	probably damaging	0.97
IGL02187:Slitrk3	APN	3	72,957,605 (GRCm39)	missense	probably damaging	1.00
IGL02478:Slitrk3	APN	3	72,958,046 (GRCm39)	missense	probably damaging	0.96
IGL02512:Slitrk3	APN	3	72,957,735 (GRCm39)	missense	probably benign	0.28
IGL02720:Slitrk3	APN	3	72,958,101 (GRCm39)	missense	probably damaging	1.00
IGL03224:Slitrk3	APN	3	72,957,263 (GRCm39)	missense	possibly damaging	0.72
wee	UTSW	3	72,958,118 (GRCm39)	missense	probably damaging	1.00
R0233:Slitrk3	UTSW	3	72,955,910 (GRCm39)	missense	probably benign	0.00
R0233:Slitrk3	UTSW	3	72,955,910 (GRCm39)	missense	probably benign	0.00
R0639:Slitrk3	UTSW	3	72,956,982 (GRCm39)	missense	probably benign	0.02
R1448:Slitrk3	UTSW	3	72,957,674 (GRCm39)	missense	probably damaging	0.99
R1656:Slitrk3	UTSW	3	72,957,672 (GRCm39)	missense	probably damaging	0.98
R1713:Slitrk3	UTSW	3	72,957,024 (GRCm39)	missense	probably benign	0.00
R1992:Slitrk3	UTSW	3	72,957,104 (GRCm39)	missense	possibly damaging	0.80
R1999:Slitrk3	UTSW	3	72,957,297 (GRCm39)	missense	probably benign	0.13
R2359:Slitrk3	UTSW	3	72,956,678 (GRCm39)	missense	possibly damaging	0.56
R3083:Slitrk3	UTSW	3	72,955,928 (GRCm39)	missense	probably benign	0.00
R3153:Slitrk3	UTSW	3	72,956,315 (GRCm39)	nonsense	probably null
R3821:Slitrk3	UTSW	3	72,956,549 (GRCm39)	missense	possibly damaging	0.94
R4208:Slitrk3	UTSW	3	72,958,490 (GRCm39)	missense	possibly damaging	0.67
R4323:Slitrk3	UTSW	3	72,958,118 (GRCm39)	missense	probably damaging	1.00
R4580:Slitrk3	UTSW	3	72,958,539 (GRCm39)	missense	probably damaging	0.96
R4730:Slitrk3	UTSW	3	72,956,852 (GRCm39)	missense	probably benign	0.08
R4742:Slitrk3	UTSW	3	72,955,898 (GRCm39)	missense	probably benign	0.00
R4979:Slitrk3	UTSW	3	72,957,129 (GRCm39)	missense	possibly damaging	0.95
R5018:Slitrk3	UTSW	3	72,957,845 (GRCm39)	missense	probably benign	0.31
R5023:Slitrk3	UTSW	3	72,957,981 (GRCm39)	missense	probably benign	0.24
R5057:Slitrk3	UTSW	3	72,957,981 (GRCm39)	missense	probably benign	0.24
R5156:Slitrk3	UTSW	3	72,956,592 (GRCm39)	missense	probably benign
R5500:Slitrk3	UTSW	3	72,957,680 (GRCm39)	missense	probably damaging	1.00
R5582:Slitrk3	UTSW	3	72,957,737 (GRCm39)	missense	probably benign	0.09
R5797:Slitrk3	UTSW	3	72,955,962 (GRCm39)	missense	probably damaging	0.99
R5963:Slitrk3	UTSW	3	72,958,046 (GRCm39)	missense	probably benign	0.30
R5985:Slitrk3	UTSW	3	72,958,233 (GRCm39)	missense	probably damaging	1.00
R6123:Slitrk3	UTSW	3	72,957,095 (GRCm39)	missense	probably damaging	1.00
R6393:Slitrk3	UTSW	3	72,957,247 (GRCm39)	missense	possibly damaging	0.79
R6529:Slitrk3	UTSW	3	72,958,551 (GRCm39)	missense	probably benign	0.02
R6584:Slitrk3	UTSW	3	72,956,558 (GRCm39)	missense	probably damaging	0.99
R6645:Slitrk3	UTSW	3	72,957,194 (GRCm39)	missense	probably benign	0.13
R7001:Slitrk3	UTSW	3	72,957,942 (GRCm39)	nonsense	probably null
R7282:Slitrk3	UTSW	3	72,957,798 (GRCm39)	missense	possibly damaging	0.70
R7534:Slitrk3	UTSW	3	72,957,440 (GRCm39)	missense	probably damaging	0.98
R7577:Slitrk3	UTSW	3	72,958,448 (GRCm39)	missense	probably damaging	0.99
R7757:Slitrk3	UTSW	3	72,958,172 (GRCm39)	missense	probably damaging	1.00
R8251:Slitrk3	UTSW	3	72,956,729 (GRCm39)	missense	possibly damaging	0.67
R8354:Slitrk3	UTSW	3	72,956,513 (GRCm39)	missense	probably benign	0.08
R8454:Slitrk3	UTSW	3	72,956,513 (GRCm39)	missense	probably benign	0.08
R8488:Slitrk3	UTSW	3	72,958,520 (GRCm39)	missense	probably benign	0.02
R8491:Slitrk3	UTSW	3	72,958,592 (GRCm39)	missense	possibly damaging	0.89
R8843:Slitrk3	UTSW	3	72,956,164 (GRCm39)	missense	probably benign	0.04
R9140:Slitrk3	UTSW	3	72,957,792 (GRCm39)	missense	probably benign	0.02
R9451:Slitrk3	UTSW	3	72,958,616 (GRCm39)	missense	possibly damaging	0.83
R9511:Slitrk3	UTSW	3	72,958,272 (GRCm39)	missense	possibly damaging	0.46
R9575:Slitrk3	UTSW	3	72,956,127 (GRCm39)	missense	probably benign	0.00
R9589:Slitrk3	UTSW	3	72,957,981 (GRCm39)	missense	probably benign	0.24
R9603:Slitrk3	UTSW	3	72,958,649 (GRCm39)	missense	probably benign	0.00
X0022:Slitrk3	UTSW	3	72,957,599 (GRCm39)	missense	probably damaging	1.00
Z1176:Slitrk3	UTSW	3	72,956,103 (GRCm39)	missense	probably benign	0.09
Z1177:Slitrk3	UTSW	3	72,956,475 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02