Incidental Mutation 'R6312:Slitrk6'
| ID |
509841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk6
|
| Ensembl Gene |
ENSMUSG00000045871 |
| Gene Name |
SLIT and NTRK-like family, member 6 |
| Synonyms |
4832410J21Rik |
| MMRRC Submission |
044415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6312 (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 110987679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 676
(L676P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078386
AA Change: L676P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: L676P
| 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: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,936,541 (GRCm39) |
S472P |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,072 (GRCm39) |
H164L |
probably benign |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| AC153874.1 |
T |
A |
10: 77,682,961 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
T |
A |
11: 69,902,593 (GRCm39) |
M375L |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,079 (GRCm39) |
*202R |
probably null |
Het |
| B3gat2 |
G |
T |
1: 23,854,548 (GRCm39) |
E83* |
probably null |
Het |
| Bmper |
C |
A |
9: 23,318,087 (GRCm39) |
Q569K |
possibly damaging |
Het |
| C2cd4d |
C |
A |
3: 94,271,742 (GRCm39) |
P336H |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,891,960 (GRCm39) |
S363T |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,644,996 (GRCm39) |
V119A |
probably benign |
Het |
| Cfhr2 |
C |
T |
1: 139,758,817 (GRCm39) |
V78I |
possibly damaging |
Het |
| Crocc2 |
A |
T |
1: 93,143,432 (GRCm39) |
K1345* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,702,268 (GRCm39) |
M255T |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,930,669 (GRCm39) |
I834F |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,289,671 (GRCm39) |
K205* |
probably null |
Het |
| Epg5 |
T |
A |
18: 78,022,426 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Fam20a |
A |
C |
11: 109,565,456 (GRCm39) |
C452G |
probably damaging |
Het |
| Gnai2 |
A |
T |
9: 107,512,316 (GRCm39) |
V34E |
probably damaging |
Het |
| Gng3 |
A |
G |
19: 8,815,997 (GRCm39) |
V7A |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,449,326 (GRCm39) |
V77A |
possibly damaging |
Het |
| Hint1 |
G |
A |
11: 54,760,816 (GRCm39) |
C85Y |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,015,504 (GRCm39) |
S551L |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,829 (GRCm39) |
L581P |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,021,739 (GRCm39) |
N680K |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,370,803 (GRCm39) |
Y138F |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,267,025 (GRCm39) |
G4294E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,246 (GRCm39) |
M1165T |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,175 (GRCm39) |
I489T |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,119,223 (GRCm39) |
N24I |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,148,821 (GRCm39) |
T143A |
probably benign |
Het |
| Nudt2 |
A |
G |
4: 41,480,386 (GRCm39) |
T90A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,477 (GRCm39) |
I300L |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,796 (GRCm39) |
Y296N |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTGTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTT |
TTTGCTGATT |
9: 37,937,843 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
T |
TGCTGTTC |
9: 37,937,845 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,925 (GRCm39) |
F62I |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,853,119 (GRCm39) |
V592A |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
T |
C |
7: 127,872,715 (GRCm39) |
K411R |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,135,457 (GRCm39) |
S381P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,434,300 (GRCm39) |
|
probably null |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Homo |
| Tma16 |
T |
C |
8: 66,934,118 (GRCm39) |
E79G |
probably damaging |
Het |
| Trim14 |
G |
T |
4: 46,507,257 (GRCm39) |
H320N |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,053,008 (GRCm39) |
D323G |
probably damaging |
Het |
| Vash2 |
C |
A |
1: 190,690,880 (GRCm39) |
R309L |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,679,083 (GRCm39) |
V255M |
possibly damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,566 (GRCm39) |
|
probably null |
Het |
| Zfp382 |
G |
A |
7: 29,833,963 (GRCm39) |
R538H |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,184 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,448,201 (GRCm39) |
C290R |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,714 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
G |
T |
7: 29,527,647 (GRCm39) |
G111W |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,429 (GRCm39) |
I207T |
possibly 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 |
|
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'- AATAAGCTTGCATCCTGAAAGG -3'
(R):5'- ACTATTGTATTCTGTGCCGCGG -3'
Sequencing Primer
(F):5'- AGGATATGAAATCTGTTGATTGGTC -3'
(R):5'- ATTCTGTGCCGCGGGGATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation