Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Slitrk6'

375763

Institutional Source

Beutler Lab

Gene Symbol

Slitrk6

Ensembl Gene

ENSMUSG00000045871

Gene Name

SLIT and NTRK-like family, member 6

Synonyms

4832410J21Rik

MMRRC Submission

042492-MU

Accession Numbers

Essential gene?

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

Stock #

R4886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110986012-110992581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110989315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

Ref Sequence

ENSEMBL: ENSMUSP00000077492 (fasta)

Gene Model

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

AlphaFold

Q8C110

Predicted Effect

probably damaging
Transcript: ENSMUST00000078386
AA Change: T131A

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

SMART Domains

Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: T131A

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

Meta Mutation Damage Score

0.2672

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,279,494 (GRCm39)	I91N	possibly damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	probably benign	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
IGL03103:Slitrk6	APN	14	110,987,373 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCACGAAGATCTAGATGGG -3'
(R):5'- ATCAGTGTGCCACCATCAC -3'

Sequencing Primer
(F):5'- CCCACGAAGATCTAGATGGGTTAAAG -3'
(R):5'- CATCACGACCTTTCCACTTAAG -3'

Posted On

2016-03-17