Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03103:Slitrk6'

418819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slitrk6

Ensembl Gene

ENSMUSG00000045871

Gene Name

SLIT and NTRK-like family, member 6

Synonyms

4832410J21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL03103

Quality Score

Status

Chromosome

Chromosomal Location

110986012-110992581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110987373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 778 (L778P)

Ref Sequence

ENSEMBL: ENSMUSP00000077492 (fasta)

Gene Model

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

AlphaFold

Q8C110

Predicted Effect

probably benign
Transcript: ENSMUST00000078386
AA Change: L778P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: L778P

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc27	A	T	11: 104,403,806 (GRCm39)	F652Y	probably benign	Het
Cntn5	T	C	9: 9,972,817 (GRCm39)		probably benign	Het
Ctsc	A	G	7: 87,959,013 (GRCm39)	N431S	probably benign	Het
Ddi2	A	G	4: 141,430,479 (GRCm39)	M235T	probably damaging	Het
Dgkg	G	A	16: 22,399,275 (GRCm39)	P220S	probably damaging	Het
Gpr180	A	T	14: 118,377,175 (GRCm39)	I59F	possibly damaging	Het
Haspin	A	T	11: 73,027,526 (GRCm39)	V521D	probably damaging	Het
Itprid1	A	G	6: 55,945,144 (GRCm39)	T622A	possibly damaging	Het
Kif16b	G	T	2: 142,704,408 (GRCm39)	T57N	probably damaging	Het
Lmbr1	A	G	5: 29,440,014 (GRCm39)	F422S	probably damaging	Het
Lpcat2b	A	T	5: 107,581,414 (GRCm39)	N248Y	probably damaging	Het
Lrch3	T	C	16: 32,772,507 (GRCm39)	V163A	probably damaging	Het
Lrrc49	A	G	9: 60,592,316 (GRCm39)		probably null	Het
Mon2	T	A	10: 122,866,008 (GRCm39)		probably benign	Het
Mroh4	T	C	15: 74,488,008 (GRCm39)	S374G	possibly damaging	Het
Nr1h3	T	A	2: 91,022,360 (GRCm39)	K89N	probably damaging	Het
Or4c29	A	T	2: 88,740,522 (GRCm39)	S72T	probably benign	Het
Or52w1	A	G	7: 105,017,785 (GRCm39)	D75G	probably damaging	Het
Or8b49	A	G	9: 38,505,823 (GRCm39)	Y102C	probably damaging	Het
Phldb3	C	T	7: 24,323,601 (GRCm39)	P445L	possibly damaging	Het
Pstpip1	G	T	9: 56,021,592 (GRCm39)	V39L	possibly damaging	Het
Sbf1	A	T	15: 89,178,150 (GRCm39)	L1560Q	probably damaging	Het
Sco1	C	T	11: 66,946,568 (GRCm39)	Q114*	probably null	Het
Slc29a4	A	G	5: 142,697,835 (GRCm39)	H96R	probably damaging	Het
Tas2r110	A	G	6: 132,845,443 (GRCm39)	Q158R	probably benign	Het
Tle3	A	G	9: 61,300,524 (GRCm39)	I92V	possibly damaging	Het
Ttn	T	A	2: 76,579,266 (GRCm39)	M15549L	possibly damaging	Het
Urb2	T	G	8: 124,756,491 (GRCm39)	S733A	probably benign	Het
Vcl	T	C	14: 21,074,348 (GRCm39)	W912R	probably damaging	Het

Other mutations in Slitrk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Slitrk6	APN	14	110,988,547 (GRCm39)	missense	probably benign	0.35
IGL01131:Slitrk6	APN	14	110,989,008 (GRCm39)	missense	probably damaging	1.00
IGL01294:Slitrk6	APN	14	110,987,506 (GRCm39)	missense	probably benign
IGL01295:Slitrk6	APN	14	110,988,868 (GRCm39)	missense	possibly damaging	0.50
IGL01762:Slitrk6	APN	14	110,989,056 (GRCm39)	missense	probably damaging	1.00
IGL02165:Slitrk6	APN	14	110,989,249 (GRCm39)	missense	probably benign	0.41
IGL02546:Slitrk6	APN	14	110,987,226 (GRCm39)	missense	probably benign	0.18
PIT1430001:Slitrk6	UTSW	14	110,987,859 (GRCm39)	missense	possibly damaging	0.93
PIT4480001:Slitrk6	UTSW	14	110,987,257 (GRCm39)	frame shift	probably null
R0035:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0066:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0067:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0069:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0107:Slitrk6	UTSW	14	110,989,395 (GRCm39)	missense	possibly damaging	0.69
R0157:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0422:Slitrk6	UTSW	14	110,989,725 (GRCm39)	start gained	probably benign
R0422:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0454:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0505:Slitrk6	UTSW	14	110,987,364 (GRCm39)	missense	probably damaging	1.00
R0633:Slitrk6	UTSW	14	110,989,317 (GRCm39)	missense	probably damaging	1.00
R0711:Slitrk6	UTSW	14	110,987,251 (GRCm39)	missense	probably damaging	1.00
R0843:Slitrk6	UTSW	14	110,987,530 (GRCm39)	missense	probably benign
R1298:Slitrk6	UTSW	14	110,989,297 (GRCm39)	missense	possibly damaging	0.94
R1693:Slitrk6	UTSW	14	110,988,360 (GRCm39)	missense	probably damaging	1.00
R1756:Slitrk6	UTSW	14	110,987,984 (GRCm39)	missense	probably benign
R1998:Slitrk6	UTSW	14	110,989,255 (GRCm39)	missense	probably damaging	0.99
R2049:Slitrk6	UTSW	14	110,988,226 (GRCm39)	missense	probably benign	0.00
R2140:Slitrk6	UTSW	14	110,988,226 (GRCm39)	missense	probably benign	0.00
R2142:Slitrk6	UTSW	14	110,988,226 (GRCm39)	missense	probably benign	0.00
R2314:Slitrk6	UTSW	14	110,989,387 (GRCm39)	missense	probably damaging	1.00
R2566:Slitrk6	UTSW	14	110,987,704 (GRCm39)	missense	probably benign	0.00
R4231:Slitrk6	UTSW	14	110,988,820 (GRCm39)	missense	probably benign	0.02
R4236:Slitrk6	UTSW	14	110,987,580 (GRCm39)	missense	probably benign	0.07
R4247:Slitrk6	UTSW	14	110,988,171 (GRCm39)	missense	probably damaging	1.00
R4576:Slitrk6	UTSW	14	110,987,602 (GRCm39)	missense	probably benign	0.05
R4856:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4858:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4859:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4860:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4860:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4886:Slitrk6	UTSW	14	110,989,315 (GRCm39)	missense	probably damaging	1.00
R4931:Slitrk6	UTSW	14	110,987,811 (GRCm39)	missense	probably damaging	1.00
R5255:Slitrk6	UTSW	14	110,987,185 (GRCm39)	makesense	probably null
R5281:Slitrk6	UTSW	14	110,987,805 (GRCm39)	missense	probably damaging	1.00
R5450:Slitrk6	UTSW	14	110,987,529 (GRCm39)	missense	probably benign
R5579:Slitrk6	UTSW	14	110,988,649 (GRCm39)	missense	possibly damaging	0.82
R5689:Slitrk6	UTSW	14	110,989,558 (GRCm39)	missense	probably benign
R5935:Slitrk6	UTSW	14	110,987,305 (GRCm39)	missense	probably benign	0.00
R6016:Slitrk6	UTSW	14	110,987,958 (GRCm39)	missense	probably benign	0.00
R6312:Slitrk6	UTSW	14	110,987,679 (GRCm39)	missense	probably benign	0.00
R6890:Slitrk6	UTSW	14	110,988,528 (GRCm39)	nonsense	probably null
R6952:Slitrk6	UTSW	14	110,987,974 (GRCm39)	missense	probably benign
R7378:Slitrk6	UTSW	14	110,987,295 (GRCm39)	missense	probably damaging	1.00
R8354:Slitrk6	UTSW	14	110,989,478 (GRCm39)	missense	probably damaging	1.00
R8401:Slitrk6	UTSW	14	110,989,453 (GRCm39)	missense	possibly damaging	0.67
R8454:Slitrk6	UTSW	14	110,989,478 (GRCm39)	missense	probably damaging	1.00
R8807:Slitrk6	UTSW	14	110,988,123 (GRCm39)	missense	possibly damaging	0.77
R8814:Slitrk6	UTSW	14	110,987,370 (GRCm39)	missense	probably benign
R8826:Slitrk6	UTSW	14	110,988,801 (GRCm39)	missense	probably benign
R9681:Slitrk6	UTSW	14	110,988,258 (GRCm39)	missense	probably damaging	1.00
R9740:Slitrk6	UTSW	14	110,987,444 (GRCm39)	missense	probably benign	0.13
R9740:Slitrk6	UTSW	14	110,987,430 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02