Incidental Mutation 'IGL02546:Slitrk6'
| ID |
297831 |
| 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: 0.148)
|
| Stock # |
IGL02546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110987226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 827
(H827L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078386
AA Change: H827L
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: H827L
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
| Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,980,847 (GRCm39) |
|
probably null |
Het |
| Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
| Hepacam2 |
A |
G |
6: 3,483,568 (GRCm39) |
V147A |
possibly damaging |
Het |
| Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
| Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
| Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
| Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
| Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
| Ncf4 |
A |
G |
15: 78,145,219 (GRCm39) |
D269G |
probably damaging |
Het |
| Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
| Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,942,707 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,266 (GRCm39) |
|
probably benign |
Het |
| Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
| Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
| Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
| Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
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 |
|
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 |
2015-04-16 |
Incidental Mutation