Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Slitrk6'

226265

Institutional Source

Beutler Lab

Gene Symbol

Slitrk6

Ensembl Gene

ENSMUSG00000045871

Gene Name

SLIT and NTRK-like family, member 6

Synonyms

4832410J21Rik

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

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

Stock #

R2049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110748580-110755149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110750794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 494 (T494P)

Ref Sequence

ENSEMBL: ENSMUSP00000077492 (fasta)

Gene Model

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

AlphaFold

Q8C110

Predicted Effect

probably benign
Transcript: ENSMUST00000078386
AA Change: T494P

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

SMART Domains

Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: T494P

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

0.0758

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,584,987	R8*	probably null	Het
Abhd17a	A	G	10: 80,585,606		probably null	Het
Acsm1	A	G	7: 119,656,039	R415G	probably damaging	Het
Acta1	G	T	8: 123,892,064	T360N	probably benign	Het
Adam6a	T	A	12: 113,544,429	S141T	probably benign	Het
Adgrd1	G	T	5: 129,115,095	K76N	probably benign	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agps	T	A	2: 75,858,926	M156K	probably benign	Het
Agxt	A	G	1: 93,137,315	I149V	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,849,942	D54E	probably benign	Het
Asb8	C	A	15: 98,136,069	E202*	probably null	Het
Bmp5	A	G	9: 75,893,790	I401V	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Cerk	G	A	15: 86,142,808	S167L	probably benign	Het
Chrm3	T	A	13: 9,878,335	I222F	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Commd10	A	T	18: 46,963,747	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,482,138	F201L	probably benign	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,154,647	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dnah9	A	G	11: 66,044,683	M1970T	probably damaging	Het
Doxl2	T	A	6: 48,977,755	L609*	probably null	Het
Dsc3	A	T	18: 19,989,680	D62E	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dusp7	C	T	9: 106,373,897	T407M	probably damaging	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Entpd5	A	G	12: 84,396,858	I12T	probably benign	Het
Espn	T	C	4: 152,121,257	E408G	probably damaging	Het
Fam160a2	A	T	7: 105,389,839	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,768,594	T200A	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5134	G	A	10: 76,004,884	A521T	possibly damaging	Het
Gm8300	A	G	12: 87,517,276	D127G	unknown	Het
Gm960	A	G	19: 4,698,605		probably benign	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,325,216	D153G	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,820,296		probably benign	Het
Igfn1	T	A	1: 135,970,638	Q730L	probably benign	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd1c	T	A	10: 67,157,998	L86*	probably null	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kif14	A	G	1: 136,487,080	N768S	probably benign	Het
Kif14	A	G	1: 136,510,167	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,137,876	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,285,079	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myom2	T	G	8: 15,106,379	I742S	probably damaging	Het
Narf	A	T	11: 121,250,369	R310*	probably null	Het
Nktr	T	A	9: 121,741,694	D167E	probably damaging	Het
Nle1	A	G	11: 82,905,366	W183R	probably damaging	Het
Npas3	A	G	12: 54,062,088	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1197	A	T	2: 88,728,745	Y285N	probably damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr816	A	G	10: 129,912,167	V37A	probably benign	Het
Olfr965	A	T	9: 39,720,115	D296V	probably damaging	Het
Olfr984	T	A	9: 40,101,119	I124L	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Otol1	T	A	3: 70,018,836	F115I	probably benign	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pex7	T	A	10: 19,894,315	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,547,513		probably benign	Het
Pkhd1l1	G	A	15: 44,581,741	D3670N	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plekha4	A	G	7: 45,553,798	D704G	probably benign	Het
Plxnb2	T	A	15: 89,159,002	N1453I	probably damaging	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,531,406	T153I	probably damaging	Het
Pramef8	T	A	4: 143,416,871	L69Q	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpre	A	G	7: 135,670,695		probably benign	Het
Ptprt	A	T	2: 161,534,545	I1312N	probably damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rims1	C	T	1: 22,596,435	C155Y	probably damaging	Het
Sltm	G	A	9: 70,581,301	G578S	probably benign	Het
Smyd5	A	G	6: 85,444,318	E338G	probably benign	Het
Snx2	G	A	18: 53,194,444	V81M	probably damaging	Het
Sp2	G	T	11: 96,961,365	N244K	probably benign	Het
Sspo	C	A	6: 48,460,763		probably benign	Het
Sspo	A	C	6: 48,463,531	D1568A	probably benign	Het
Ssrp1	T	C	2: 85,041,427		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Syt7	G	A	19: 10,439,213	R138Q	probably benign	Het
Taar7f	T	C	10: 24,050,425	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,818,541		probably null	Het
Tex261	A	G	6: 83,772,259	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,942,788	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uso1	G	A	5: 92,181,936	G427R	probably damaging	Het
Usp15	A	T	10: 123,119,137	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,431,958	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,553,561	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,522,050	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,268,304	V611A	possibly damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,950,155	P804H	probably damaging	Het
Zdhhc3	T	C	9: 123,100,537	D11G	probably damaging	Het
Zfhx3	A	G	8: 108,945,177	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp608	G	T	18: 54,895,565	L1259I	probably 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
R0422:Slitrk6	UTSW	14	110752293	start gained	probably benign
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
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

PCR Primer
(F):5'- TCTTGTCAAGATGCCCTGGG -3'
(R):5'- TGGCAATCATCTGACCAAACTC -3'

Sequencing Primer
(F):5'- TCAAGATGCCCTGGGGAAGTG -3'
(R):5'- CTCAATAAAGGCATGTTCCTTGGTC -3'

Posted On

2014-09-17