Incidental Mutation 'IGL01295:Slitrk6'
| ID |
73060 |
| 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)
|
| Stock # |
IGL01295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110988868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 280
(S280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078386
AA Change: S280T
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: S280T
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,893 (GRCm39) |
L691I |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,796 (GRCm39) |
V127E |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,726,239 (GRCm39) |
E80G |
probably damaging |
Het |
| Carmil2 |
T |
C |
8: 106,422,148 (GRCm39) |
M1139T |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Celf5 |
G |
T |
10: 81,302,914 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,830,290 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,551,208 (GRCm39) |
V2136E |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,286,075 (GRCm39) |
|
probably benign |
Het |
| Dph1 |
A |
G |
11: 75,071,775 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
T |
11: 69,900,410 (GRCm39) |
V735F |
possibly damaging |
Het |
| Eif3b |
A |
G |
5: 140,427,495 (GRCm39) |
I709V |
possibly damaging |
Het |
| Elp5 |
C |
T |
11: 69,859,296 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,360,560 (GRCm39) |
|
probably benign |
Het |
| Fbxl4 |
C |
A |
4: 22,427,348 (GRCm39) |
R530S |
probably benign |
Het |
| Fmo4 |
A |
T |
1: 162,626,693 (GRCm39) |
D284E |
probably damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,380 (GRCm39) |
Y31C |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,811,914 (GRCm39) |
Q436K |
probably benign |
Het |
| Gm5114 |
A |
T |
7: 39,057,241 (GRCm39) |
W793R |
probably damaging |
Het |
| Gm9376 |
T |
G |
14: 118,505,059 (GRCm39) |
S164A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
A |
5: 134,221,603 (GRCm39) |
D69N |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,065,472 (GRCm39) |
M69R |
possibly damaging |
Het |
| Ighv9-1 |
A |
C |
12: 114,057,619 (GRCm39) |
S94A |
probably damaging |
Het |
| Ikzf2 |
C |
T |
1: 69,617,146 (GRCm39) |
R67H |
probably benign |
Het |
| Ipcef1 |
A |
T |
10: 6,850,642 (GRCm39) |
F316L |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,683,187 (GRCm39) |
V62A |
possibly damaging |
Het |
| Kif23 |
A |
T |
9: 61,839,411 (GRCm39) |
C279S |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,539,157 (GRCm39) |
T110I |
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,515,620 (GRCm39) |
H175Q |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Nfatc4 |
T |
C |
14: 56,069,962 (GRCm39) |
V710A |
probably benign |
Het |
| Optn |
G |
A |
2: 5,037,967 (GRCm39) |
T409I |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,440 (GRCm39) |
Y74F |
probably damaging |
Het |
| Or52a5 |
C |
T |
7: 103,427,448 (GRCm39) |
V35I |
probably benign |
Het |
| Pabpc2 |
T |
A |
18: 39,907,082 (GRCm39) |
Y116N |
probably damaging |
Het |
| Pafah1b1 |
G |
T |
11: 74,574,473 (GRCm39) |
R238S |
probably damaging |
Het |
| Pdzd9 |
C |
T |
7: 120,267,618 (GRCm39) |
G66R |
probably damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,388 (GRCm39) |
L285P |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,720,405 (GRCm39) |
P323S |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,883,685 (GRCm39) |
F396L |
possibly damaging |
Het |
| Pla2g4d |
G |
A |
2: 120,112,207 (GRCm39) |
T108M |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,586,814 (GRCm39) |
Y411C |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,346,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,510,061 (GRCm39) |
S995G |
probably damaging |
Het |
| Ptf1a |
T |
C |
2: 19,451,429 (GRCm39) |
I253T |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,198,553 (GRCm39) |
I1684V |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,351,174 (GRCm39) |
V556I |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,709,283 (GRCm39) |
C47S |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,700,521 (GRCm39) |
Q569* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,059,612 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc1a5 |
A |
G |
7: 16,529,787 (GRCm39) |
D402G |
probably damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,458,634 (GRCm39) |
|
probably null |
Het |
| Slc2a13 |
T |
A |
15: 91,234,335 (GRCm39) |
|
probably null |
Het |
| Slc30a8 |
A |
T |
15: 52,169,955 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Smad2 |
G |
A |
18: 76,435,501 (GRCm39) |
A365T |
probably benign |
Het |
| Tcp10b |
C |
T |
17: 13,299,047 (GRCm39) |
P367S |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,857,929 (GRCm39) |
N163D |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,948,808 (GRCm39) |
D488G |
possibly damaging |
Het |
| Trappc12 |
C |
T |
12: 28,796,761 (GRCm39) |
S257N |
probably damaging |
Het |
| Treml1 |
T |
C |
17: 48,672,627 (GRCm39) |
|
probably benign |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,744 (GRCm39) |
V234A |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,895 (GRCm39) |
H202P |
probably damaging |
Het |
| Vmn2r87 |
C |
A |
10: 130,307,878 (GRCm39) |
V787F |
probably damaging |
Het |
| Wbp2nl |
T |
A |
15: 82,190,619 (GRCm39) |
M129K |
probably damaging |
Het |
| Zdhhc15 |
T |
C |
X: 103,588,519 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation