Incidental Mutation 'R0711:Slitrk6'
ID |
62762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slitrk6
|
Ensembl Gene |
ENSMUSG00000045871 |
Gene Name |
SLIT and NTRK-like family, member 6 |
Synonyms |
4832410J21Rik |
MMRRC Submission |
038894-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R0711 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110987251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 819
(Y819N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
AlphaFold |
Q8C110 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078386
AA Change: Y819N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077492 Gene: ENSMUSG00000045871 AA Change: Y819N
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 |
0.2626 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (91/91) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,726,226 (GRCm39) |
|
probably null |
Het |
Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
Igsf3 |
T |
C |
3: 101,334,709 (GRCm39) |
M262T |
probably benign |
Het |
Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAATACTACGTACTCCTTGCAACAG -3'
(R):5'- GGGAACTTCAGCAACTTGGCATCAC -3'
Sequencing Primer
(F):5'- GAACAGGCTATATTGCCTGATG -3'
(R):5'- TTGGCATCACAGAGTACCTAAG -3'
|
Posted On |
2013-07-30 |