Incidental Mutation 'R0422:Slitrk6'
| ID |
261880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk6
|
| Ensembl Gene |
ENSMUSG00000045871 |
| Gene Name |
SLIT and NTRK-like family, member 6 |
| Synonyms |
4832410J21Rik |
| MMRRC Submission |
038624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 110989725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078386
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
A |
7: 119,372,963 (GRCm39) |
Y155* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,887,074 (GRCm39) |
C937R |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,310,391 (GRCm39) |
D451G |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,145,384 (GRCm39) |
V63E |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,598,968 (GRCm39) |
I514T |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,354,478 (GRCm39) |
M286T |
probably damaging |
Het |
| Cdkl2 |
T |
C |
5: 92,168,171 (GRCm39) |
D341G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,526,967 (GRCm39) |
D813G |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,905,099 (GRCm39) |
V894A |
probably damaging |
Het |
| Coro2b |
T |
A |
9: 62,335,259 (GRCm39) |
Y304F |
probably benign |
Het |
| Dclre1a |
T |
A |
19: 56,532,567 (GRCm39) |
K676* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,307,224 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
G |
8: 106,702,750 (GRCm39) |
|
probably null |
Het |
| Efna5 |
C |
T |
17: 62,914,414 (GRCm39) |
A177T |
probably benign |
Het |
| Fabp1 |
G |
A |
6: 71,180,077 (GRCm39) |
V83I |
possibly damaging |
Het |
| H2-DMa |
G |
T |
17: 34,356,921 (GRCm39) |
G140C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,481,145 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
T |
A |
9: 44,300,539 (GRCm39) |
N869K |
probably damaging |
Het |
| Ing1 |
G |
A |
8: 11,611,933 (GRCm39) |
V124I |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,134,643 (GRCm39) |
I380F |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,019,888 (GRCm39) |
I378V |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,520,662 (GRCm39) |
V1816A |
probably benign |
Het |
| Matn2 |
G |
A |
15: 34,435,917 (GRCm39) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,297,621 (GRCm39) |
S805N |
probably benign |
Het |
| Napsa |
A |
C |
7: 44,234,530 (GRCm39) |
Q254P |
probably damaging |
Het |
| Nat10 |
G |
T |
2: 103,557,074 (GRCm39) |
S860* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,381,112 (GRCm39) |
D560G |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,912,596 (GRCm39) |
M736V |
probably benign |
Het |
| Or4k44 |
A |
T |
2: 111,368,328 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,744 (GRCm39) |
R230* |
probably null |
Het |
| Or8u8 |
A |
T |
2: 86,011,566 (GRCm39) |
D296E |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,492 (GRCm39) |
S335G |
possibly damaging |
Het |
| Panx1 |
G |
T |
9: 14,919,112 (GRCm39) |
S249* |
probably null |
Het |
| Parvb |
A |
G |
15: 84,179,812 (GRCm39) |
T231A |
probably benign |
Het |
| Pcdhb11 |
G |
T |
18: 37,554,923 (GRCm39) |
L84F |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,096 (GRCm39) |
*447Q |
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,783 (GRCm39) |
S125P |
probably benign |
Het |
| Prss1 |
T |
A |
6: 41,440,246 (GRCm39) |
D194E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,001,409 (GRCm39) |
C772* |
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,076,125 (GRCm39) |
F253Y |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,330,024 (GRCm39) |
E1183D |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,994,132 (GRCm39) |
T958A |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,558,038 (GRCm39) |
M480T |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,467,886 (GRCm39) |
V473E |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,515,848 (GRCm39) |
T583A |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,400 (GRCm39) |
T117A |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,199 (GRCm39) |
S511P |
possibly damaging |
Het |
| Spata7 |
A |
G |
12: 98,624,524 (GRCm39) |
Y110C |
probably damaging |
Het |
| Supt16 |
T |
A |
14: 52,421,453 (GRCm39) |
I31F |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,869,172 (GRCm39) |
T70A |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,900,679 (GRCm39) |
F594L |
probably damaging |
Het |
| Unc13d |
C |
T |
11: 115,960,846 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
G |
1: 66,522,497 (GRCm39) |
V233G |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,857,781 (GRCm39) |
D735E |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,917 (GRCm39) |
T1141A |
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 |
110,987,364 (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 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation