Incidental Mutation 'R9681:Slitrk6'
| ID |
728583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk6
|
| Ensembl Gene |
ENSMUSG00000045871 |
| Gene Name |
SLIT and NTRK-like family, member 6 |
| Synonyms |
4832410J21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R9681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110988258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 483
(L483P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078386
AA Change: L483P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: L483P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
A |
G |
6: 72,324,450 (GRCm39) |
D20G |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,566,082 (GRCm39) |
Y258* |
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,498 (GRCm39) |
H34L |
|
Het |
| Ankmy1 |
G |
T |
1: 92,813,882 (GRCm39) |
N432K |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,143,893 (GRCm39) |
M966T |
possibly damaging |
Het |
| Ark2n |
A |
T |
18: 77,722,989 (GRCm39) |
V349D |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,662 (GRCm39) |
T83A |
probably benign |
Het |
| Cdk1 |
T |
A |
10: 69,178,449 (GRCm39) |
D137V |
possibly damaging |
Het |
| Cfap299 |
T |
A |
5: 98,477,214 (GRCm39) |
M1K |
probably null |
Het |
| Chia1 |
A |
G |
3: 106,037,996 (GRCm39) |
Y326C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,974 (GRCm39) |
D295G |
possibly damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cr1l |
T |
C |
1: 194,800,149 (GRCm39) |
D175G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,067 (GRCm39) |
V87E |
probably damaging |
Het |
| Cyp2b19 |
T |
A |
7: 26,466,328 (GRCm39) |
L377Q |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,125,679 (GRCm39) |
V243D |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,562,414 (GRCm39) |
V2658A |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,677,611 (GRCm39) |
M437L |
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,425 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,880 (GRCm39) |
C80* |
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,831,315 (GRCm39) |
E805G |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,479,473 (GRCm39) |
E134G |
probably benign |
Het |
| Hdac11 |
T |
A |
6: 91,150,068 (GRCm39) |
V289D |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,081 (GRCm39) |
E118G |
possibly damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,041,858 (GRCm39) |
L1095Q |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,528,749 (GRCm39) |
C65S |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Itsn2 |
G |
T |
12: 4,683,499 (GRCm39) |
V341F |
unknown |
Het |
| Jak1 |
G |
A |
4: 101,019,085 (GRCm39) |
R723C |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,345,903 (GRCm39) |
C561S |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,750,097 (GRCm39) |
F1085L |
possibly damaging |
Het |
| Mcm7 |
A |
T |
5: 138,164,220 (GRCm39) |
Y600* |
probably null |
Het |
| Mecom |
A |
T |
3: 30,033,803 (GRCm39) |
D300E |
probably benign |
Het |
| Mfap4 |
T |
A |
11: 61,376,925 (GRCm39) |
Y51* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,833,254 (GRCm39) |
N286K |
probably benign |
Het |
| Myl2 |
A |
T |
5: 122,240,783 (GRCm39) |
R40* |
probably null |
Het |
| Nom1 |
A |
G |
5: 29,642,623 (GRCm39) |
S375G |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,598,133 (GRCm39) |
P368Q |
probably null |
Het |
| Oca2 |
G |
C |
7: 55,943,623 (GRCm39) |
Q265H |
probably null |
Het |
| Or52a20 |
T |
A |
7: 103,366,475 (GRCm39) |
F225I |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or5k8 |
T |
A |
16: 58,644,176 (GRCm39) |
N299Y |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,664 (GRCm39) |
T47S |
probably damaging |
Het |
| Or7a41 |
G |
A |
10: 78,871,577 (GRCm39) |
D316N |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,120 (GRCm39) |
E459G |
probably benign |
Het |
| Pde1a |
G |
T |
2: 79,695,465 (GRCm39) |
A494D |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,808,587 (GRCm39) |
Y428C |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,254,391 (GRCm39) |
F59L |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,258,950 (GRCm39) |
V980A |
possibly damaging |
Het |
| Polb |
T |
C |
8: 23,118,346 (GRCm39) |
D318G |
possibly damaging |
Het |
| Rasgef1c |
T |
A |
11: 49,861,040 (GRCm39) |
M335K |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,687 (GRCm39) |
S651P |
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,334,558 (GRCm39) |
I624S |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,087 (GRCm39) |
H290L |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,183,599 (GRCm39) |
H482R |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,681,691 (GRCm39) |
E168V |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,691,226 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,102,723 (GRCm39) |
K54* |
probably null |
Het |
| Svep1 |
T |
A |
4: 58,084,959 (GRCm39) |
N1793I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,612,723 (GRCm39) |
I17119V |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,274,500 (GRCm39) |
L617P |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,083 (GRCm39) |
N542S |
possibly damaging |
Het |
| Vmn1r151 |
T |
A |
7: 22,198,368 (GRCm39) |
T246S |
probably damaging |
Het |
| Vmn1r57 |
T |
A |
7: 5,224,069 (GRCm39) |
V198E |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,889 (GRCm39) |
Q191L |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,403,356 (GRCm39) |
T39M |
possibly damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,470 (GRCm39) |
R537L |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,793,680 (GRCm39) |
V22E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,112 (GRCm39) |
L218P |
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 |
|
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 |
|
|
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'- ATCATCAGTCATGGTGCCCTTG -3'
(R):5'- TCTGACACGACTCCAGAAGC -3'
Sequencing Primer
(F):5'- GCCAAGCTTGTGGATCCATTGC -3'
(R):5'- CGACTCCAGAAGCTTTATCTCAATGG -3'
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| Posted On |
2022-10-06 |
Incidental Mutation