Incidental Mutation 'R5450:Slitrk6'
ID |
429301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slitrk6
|
Ensembl Gene |
ENSMUSG00000045871 |
Gene Name |
SLIT and NTRK-like family, member 6 |
Synonyms |
4832410J21Rik |
MMRRC Submission |
043015-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5450 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110987529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 726
(H726L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
AlphaFold |
Q8C110 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078386
AA Change: H726L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077492 Gene: ENSMUSG00000045871 AA Change: H726L
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 |
0.0675 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (74/76) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Arhgef4 |
T |
G |
1: 34,846,405 (GRCm39) |
|
probably benign |
Het |
Atg14 |
T |
C |
14: 47,788,921 (GRCm39) |
N144S |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,602,160 (GRCm39) |
M1454K |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,412,327 (GRCm39) |
H138L |
possibly damaging |
Het |
Cd200r2 |
T |
A |
16: 44,729,934 (GRCm39) |
D159E |
probably benign |
Het |
Cd79a |
G |
T |
7: 24,598,687 (GRCm39) |
G79C |
probably damaging |
Het |
Ceacam20 |
A |
G |
7: 19,712,133 (GRCm39) |
H38R |
possibly damaging |
Het |
Cers1 |
T |
C |
8: 70,770,947 (GRCm39) |
L119P |
probably damaging |
Het |
Ces1f |
C |
A |
8: 93,992,423 (GRCm39) |
V343L |
probably benign |
Het |
Ces3a |
G |
A |
8: 105,784,550 (GRCm39) |
G511S |
possibly damaging |
Het |
Cyfip2 |
A |
G |
11: 46,175,079 (GRCm39) |
C98R |
probably benign |
Het |
Cyp2j11 |
C |
A |
4: 96,228,113 (GRCm39) |
V169L |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,860 (GRCm39) |
T523A |
probably benign |
Het |
Ddx31 |
T |
C |
2: 28,776,981 (GRCm39) |
S567P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dsg1b |
A |
C |
18: 20,542,121 (GRCm39) |
H876P |
probably damaging |
Het |
Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
Eno4 |
T |
C |
19: 58,948,679 (GRCm39) |
F393S |
possibly damaging |
Het |
Eral1 |
C |
T |
11: 77,969,183 (GRCm39) |
D106N |
probably benign |
Het |
Esp18 |
G |
T |
17: 39,719,070 (GRCm39) |
R23M |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,697,143 (GRCm39) |
V674I |
probably benign |
Het |
Fbxw13 |
A |
C |
9: 109,013,225 (GRCm39) |
N154K |
probably benign |
Het |
Gtpbp6 |
A |
G |
5: 110,254,991 (GRCm39) |
V130A |
probably damaging |
Het |
Hc |
T |
C |
2: 34,903,050 (GRCm39) |
D1067G |
possibly damaging |
Het |
Ighg1 |
A |
T |
12: 113,294,126 (GRCm39) |
S6T |
unknown |
Het |
Ikzf3 |
C |
T |
11: 98,357,912 (GRCm39) |
R475H |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,945,796 (GRCm39) |
|
probably null |
Het |
Kcmf1 |
A |
T |
6: 72,819,913 (GRCm39) |
L311* |
probably null |
Het |
Kmt2d |
C |
A |
15: 98,752,967 (GRCm39) |
E184D |
probably damaging |
Het |
Lrguk |
A |
T |
6: 34,047,996 (GRCm39) |
I314F |
probably damaging |
Het |
Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
Mroh1 |
C |
A |
15: 76,316,547 (GRCm39) |
|
probably benign |
Het |
Mx1 |
A |
T |
16: 97,255,347 (GRCm39) |
Y235* |
probably null |
Het |
Or4x6 |
A |
G |
2: 89,949,013 (GRCm39) |
*310Q |
probably null |
Het |
Pamr1 |
T |
G |
2: 102,469,662 (GRCm39) |
Y403D |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,953,162 (GRCm39) |
E551G |
possibly damaging |
Het |
Patl2 |
A |
G |
2: 121,955,762 (GRCm39) |
V258A |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,074,041 (GRCm39) |
F255L |
probably benign |
Het |
Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
Psg18 |
T |
A |
7: 18,087,350 (GRCm39) |
I103F |
probably benign |
Het |
Rpl39-ps |
A |
G |
15: 102,543,583 (GRCm39) |
|
noncoding transcript |
Het |
Rps6kb1 |
A |
T |
11: 86,423,663 (GRCm39) |
F106I |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sardh |
G |
T |
2: 27,129,710 (GRCm39) |
T245K |
possibly damaging |
Het |
Shprh |
T |
G |
10: 11,088,074 (GRCm39) |
I1619S |
possibly damaging |
Het |
Skint1 |
G |
A |
4: 111,882,729 (GRCm39) |
V258I |
probably benign |
Het |
Slc27a5 |
T |
C |
7: 12,728,869 (GRCm39) |
D331G |
probably benign |
Het |
Slc29a2 |
A |
G |
19: 5,079,303 (GRCm39) |
I309V |
probably benign |
Het |
Slc30a5 |
C |
T |
13: 100,957,680 (GRCm39) |
V130I |
possibly damaging |
Het |
Slc4a3 |
C |
A |
1: 75,529,300 (GRCm39) |
A531D |
probably damaging |
Het |
Slc6a16 |
C |
T |
7: 44,910,672 (GRCm39) |
T399I |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,343,784 (GRCm39) |
K309R |
probably damaging |
Het |
Speer4f2 |
T |
A |
5: 17,578,217 (GRCm39) |
C4S |
possibly damaging |
Het |
Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
Tcstv7a |
A |
T |
13: 120,289,899 (GRCm39) |
V99E |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Vmn1r47 |
T |
C |
6: 89,999,195 (GRCm39) |
L109P |
probably damaging |
Het |
Vmn1r73 |
C |
A |
7: 11,490,376 (GRCm39) |
Q65K |
possibly damaging |
Het |
Vmn1r76 |
T |
C |
7: 11,664,611 (GRCm39) |
Y166C |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,034,011 (GRCm39) |
T504A |
probably benign |
Het |
Wdr75 |
C |
A |
1: 45,851,324 (GRCm39) |
A300E |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,091,039 (GRCm39) |
E149G |
possibly damaging |
Het |
Zbtb18 |
T |
C |
1: 177,274,771 (GRCm39) |
F35L |
probably damaging |
Het |
Zfp366 |
A |
G |
13: 99,366,093 (GRCm39) |
Y418C |
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 |
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'- AGTTAACCTCCACCTCTGGC -3'
(R):5'- CTTGCAGTACAGCATGTATGG -3'
Sequencing Primer
(F):5'- TCTGGCTGGAGCTGAGCAAG -3'
(R):5'- CAGTACAGCATGTATGGTCATAAAAC -3'
|
Posted On |
2016-09-06 |