Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Slitrk6'

261880

Institutional Source

Beutler Lab

Gene Symbol

Slitrk6

Ensembl Gene

ENSMUSG00000045871

Gene Name

SLIT and NTRK-like family, member 6

Synonyms

4832410J21Rik

MMRRC Submission

038624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R0422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110748580-110755149 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 110752293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078386]

AlphaFold

Q8C110

Predicted Effect

probably benign
Transcript: ENSMUST00000078386

SMART Domains

Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:LRRNT	30	68	4e-15	BLAST
LRR	87	110	1.71e1	SMART
LRR	111	134	3.07e-1	SMART
LRR	135	158	4.44e0	SMART
LRR_TYP	159	182	2.09e-3	SMART
LRR	185	206	6.23e1	SMART
LRRCT	218	268	5.61e-5	SMART
low complexity region	287	301	N/A	INTRINSIC
Blast:LRRNT	327	364	2e-17	BLAST
LRR	388	408	2.68e1	SMART
LRR_TYP	409	432	3.63e-3	SMART
LRR_TYP	433	456	6.23e-2	SMART
LRR_TYP	457	480	3.69e-4	SMART
low complexity region	501	513	N/A	INTRINSIC
LRRCT	516	566	1.53e-6	SMART
transmembrane domain	610	632	N/A	INTRINSIC
low complexity region	634	642	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

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 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. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia. [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
1700022I11Rik	T	C	4: 42,972,199	S511P	possibly damaging	Het
Acsm3	T	A	7: 119,773,740	Y155*	probably null	Het
Adamts16	A	G	13: 70,738,955	C937R	probably damaging	Het
Akna	T	C	4: 63,392,154	D451G	probably damaging	Het
Alox12	A	T	11: 70,254,558	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,462,460	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,463,652	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,020,312	D341G	probably benign	Het
Clip2	T	C	5: 134,498,113	D813G	probably benign	Het
Cntnap3	A	G	13: 64,757,285	V894A	probably damaging	Het
Coro2b	T	A	9: 62,427,977	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,544,135	K676*	probably null	Het
Dmxl2	A	G	9: 54,399,940		probably null	Het
Dpep3	A	G	8: 105,976,118		probably null	Het
Efna5	C	T	17: 62,607,419	A177T	probably benign	Het
Fabp1	G	A	6: 71,203,093	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,137,947	G140C	probably damaging	Het
Hectd4	T	A	5: 121,343,082		probably null	Het
Hyou1	T	A	9: 44,389,242	N869K	probably damaging	Het
Ing1	G	A	8: 11,561,933	V124I	probably damaging	Het
Kalrn	T	A	16: 34,314,273	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,337,580	I378V	probably benign	Het
Kmt2c	A	G	5: 25,315,664	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,771		probably null	Het
Naip2	C	T	13: 100,161,113	S805N	probably benign	Het
Napsa	A	C	7: 44,585,106	Q254P	probably damaging	Het
Nat10	G	T	2: 103,726,729	S860*	probably null	Het
Nipbl	T	C	15: 8,351,628	D560G	probably benign	Het
Nr3c2	A	G	8: 77,185,967	M736V	probably benign	Het
Olfr1294	A	T	2: 111,537,983	F102Y	probably damaging	Het
Olfr52	A	T	2: 86,181,222	D296E	probably benign	Het
Olfr868	A	T	9: 20,101,448	R230*	probably null	Het
Palm3	A	G	8: 84,028,863	S335G	possibly damaging	Het
Panx1	G	T	9: 15,007,816	S249*	probably null	Het
Parvb	A	G	15: 84,295,611	T231A	probably benign	Het
Pcdhb11	G	T	18: 37,421,870	L84F	probably damaging	Het
Pi4k2b	T	C	5: 52,767,754	*447Q	probably null	Het
Ppp1r1a	A	G	15: 103,532,356	S125P	probably benign	Het
Prss1	T	A	6: 41,463,312	D194E	probably damaging	Het
Rnf216	A	T	5: 143,015,654	C772*	probably null	Het
Rnf216	A	T	5: 143,090,370	F253Y	probably benign	Het
Rsf1	A	T	7: 97,680,817	E1183D	probably benign	Het
Rusc1	T	C	3: 89,086,825	T958A	probably benign	Het
Rxfp1	A	G	3: 79,650,731	M480T	probably benign	Het
Slc22a16	T	A	10: 40,591,890	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,465,849	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,534,400	T117A	probably benign	Het
Spata7	A	G	12: 98,658,265	Y110C	probably damaging	Het
Supt16	T	A	14: 52,183,996	I31F	probably benign	Het
Taar7a	T	C	10: 23,993,274	T70A	probably benign	Het
Top2a	A	G	11: 99,009,853	F594L	probably damaging	Het
Unc13d	C	T	11: 116,070,020		probably null	Het
Unc80	T	G	1: 66,483,338	V233G	probably damaging	Het
Wdr91	A	T	6: 34,880,846	D735E	probably damaging	Het
Zzef1	A	G	11: 72,866,091	T1141A	possibly damaging	Het

Other mutations in Slitrk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Slitrk6	APN	14	110751115	missense	probably benign	0.35
IGL01131:Slitrk6	APN	14	110751576	missense	probably damaging	1.00
IGL01294:Slitrk6	APN	14	110750074	missense	probably benign
IGL01295:Slitrk6	APN	14	110751436	missense	possibly damaging	0.50
IGL01762:Slitrk6	APN	14	110751624	missense	probably damaging	1.00
IGL02165:Slitrk6	APN	14	110751817	missense	probably benign	0.41
IGL02546:Slitrk6	APN	14	110749794	missense	probably benign	0.18
IGL03103:Slitrk6	APN	14	110749941	missense	probably benign
PIT1430001:Slitrk6	UTSW	14	110750427	missense	possibly damaging	0.93
PIT4480001:Slitrk6	UTSW	14	110749825	frame shift	probably null
R0035:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0066:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0067:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0069:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0107:Slitrk6	UTSW	14	110751963	missense	possibly damaging	0.69
R0157:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0422:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0454:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0505:Slitrk6	UTSW	14	110749932	missense	probably damaging	1.00
R0633:Slitrk6	UTSW	14	110751885	missense	probably damaging	1.00
R0711:Slitrk6	UTSW	14	110749819	missense	probably damaging	1.00
R0843:Slitrk6	UTSW	14	110750098	missense	probably benign
R1298:Slitrk6	UTSW	14	110751865	missense	possibly damaging	0.94
R1693:Slitrk6	UTSW	14	110750928	missense	probably damaging	1.00
R1756:Slitrk6	UTSW	14	110750552	missense	probably benign
R1998:Slitrk6	UTSW	14	110751823	missense	probably damaging	0.99
R2049:Slitrk6	UTSW	14	110750794	missense	probably benign	0.00
R2140:Slitrk6	UTSW	14	110750794	missense	probably benign	0.00
R2142:Slitrk6	UTSW	14	110750794	missense	probably benign	0.00
R2314:Slitrk6	UTSW	14	110751955	missense	probably damaging	1.00
R2566:Slitrk6	UTSW	14	110750272	missense	probably benign	0.00
R4231:Slitrk6	UTSW	14	110751388	missense	probably benign	0.02
R4236:Slitrk6	UTSW	14	110750148	missense	probably benign	0.07
R4247:Slitrk6	UTSW	14	110750739	missense	probably damaging	1.00
R4576:Slitrk6	UTSW	14	110750170	missense	probably benign	0.05
R4856:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4858:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4859:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4860:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4860:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4886:Slitrk6	UTSW	14	110751883	missense	probably damaging	1.00
R4931:Slitrk6	UTSW	14	110750379	missense	probably damaging	1.00
R5255:Slitrk6	UTSW	14	110749753	makesense	probably null
R5281:Slitrk6	UTSW	14	110750373	missense	probably damaging	1.00
R5450:Slitrk6	UTSW	14	110750097	missense	probably benign
R5579:Slitrk6	UTSW	14	110751217	missense	possibly damaging	0.82
R5689:Slitrk6	UTSW	14	110752126	missense	probably benign
R5935:Slitrk6	UTSW	14	110749873	missense	probably benign	0.00
R6016:Slitrk6	UTSW	14	110750526	missense	probably benign	0.00
R6312:Slitrk6	UTSW	14	110750247	missense	probably benign	0.00
R6890:Slitrk6	UTSW	14	110751096	nonsense	probably null
R6952:Slitrk6	UTSW	14	110750542	missense	probably benign
R7378:Slitrk6	UTSW	14	110749863	missense	probably damaging	1.00
R8354:Slitrk6	UTSW	14	110752046	missense	probably damaging	1.00
R8401:Slitrk6	UTSW	14	110752021	missense	possibly damaging	0.67
R8454:Slitrk6	UTSW	14	110752046	missense	probably damaging	1.00
R8807:Slitrk6	UTSW	14	110750691	missense	possibly damaging	0.77
R8814:Slitrk6	UTSW	14	110749938	missense	probably benign
R8826:Slitrk6	UTSW	14	110751369	missense	probably benign
R9681:Slitrk6	UTSW	14	110750826	missense	probably damaging	1.00
R9740:Slitrk6	UTSW	14	110749998	missense	probably damaging	0.99
R9740:Slitrk6	UTSW	14	110750012	missense	probably benign	0.13

Predicted Primers

Posted On

2015-02-04