Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Slitrk6'

672171

Institutional Source

Beutler Lab

Gene Symbol

Slitrk6

Ensembl Gene

ENSMUSG00000045871

Gene Name

SLIT and NTRK-like family, member 6

Synonyms

4832410J21Rik

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

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

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110986012-110992581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110988123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 528 (Q528L)

Ref Sequence

ENSEMBL: ENSMUSP00000077492 (fasta)

Gene Model

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

AlphaFold

Q8C110

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078386
AA Change: Q528L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: Q528L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Dop1b	T	A	16: 93,558,973 (GRCm39)	V573E	probably benign	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,770,843 (GRCm39)	P257S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Terb1	A	G	8: 105,195,741 (GRCm39)		probably null	Het
Tex2	T	A	11: 106,435,194 (GRCm39)	H744L	unknown	Het
Tex2	T	C	11: 106,458,414 (GRCm39)	S339G	unknown	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Uroc1	A	T	6: 90,328,110 (GRCm39)	I529F	probably damaging	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	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
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
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
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'- TGTACTAGCTGTATCTGCCGC -3'
(R):5'- TTACCAGGGACCTTCAACCC -3'

Sequencing Primer
(F):5'- TGTATCTGCCGCCACTGTGG -3'
(R):5'- AACAATCTCCTTCAAGTTTTACCGG -3'

Posted On

2021-04-30