Incidental Mutation 'R0157:Slitrk6'
| ID |
22942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk6
|
| Ensembl Gene |
ENSMUSG00000045871 |
| Gene Name |
SLIT and NTRK-like family, member 6 |
| Synonyms |
4832410J21Rik |
| MMRRC Submission |
038437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R0157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
110986012-110992581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110987364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 781
(L781H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078386
AA Change: L781H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: L781H
| 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 |
0.1203 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.5%
|
| Validation Efficiency |
64% (47/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
A |
11: 80,056,527 (GRCm39) |
I180N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,840 (GRCm39) |
N673I |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,866,539 (GRCm39) |
S20P |
probably damaging |
Het |
| Arhgef26 |
T |
G |
3: 62,288,392 (GRCm39) |
D487E |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,845,475 (GRCm39) |
D1500G |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,835,812 (GRCm39) |
I39V |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,256,326 (GRCm39) |
I208N |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,980,643 (GRCm39) |
V16A |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,835,809 (GRCm39) |
I518T |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,617,211 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
G |
3: 95,792,280 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,745,886 (GRCm39) |
L74Q |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,965,484 (GRCm39) |
T1122A |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,289,385 (GRCm39) |
D806E |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,111,649 (GRCm39) |
Q287R |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,140,602 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,384,556 (GRCm39) |
T2575S |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,833,759 (GRCm39) |
I1171N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,735,464 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
A |
G |
2: 121,193,522 (GRCm39) |
T361A |
possibly damaging |
Het |
| Clec4d |
G |
T |
6: 123,244,095 (GRCm39) |
R68L |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,415,704 (GRCm39) |
V2678F |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,964,761 (GRCm39) |
V131E |
possibly damaging |
Het |
| Dab2 |
T |
C |
15: 6,459,308 (GRCm39) |
S407P |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,017,997 (GRCm39) |
G166D |
probably benign |
Het |
| F13b |
G |
A |
1: 139,431,585 (GRCm39) |
V52I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,549 (GRCm39) |
I176M |
probably benign |
Het |
| Hoxc11 |
A |
G |
15: 102,863,436 (GRCm39) |
Y159C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,642 (GRCm39) |
I120T |
possibly damaging |
Het |
| Il20rb |
A |
G |
9: 100,355,132 (GRCm39) |
Y104H |
probably damaging |
Het |
| Krtap21-1 |
A |
G |
16: 89,200,430 (GRCm39) |
C71R |
unknown |
Het |
| Lamc1 |
T |
C |
1: 153,138,353 (GRCm39) |
D167G |
probably benign |
Het |
| Lin7c |
C |
A |
2: 109,725,514 (GRCm39) |
A73E |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,840,945 (GRCm39) |
H63R |
possibly damaging |
Het |
| Mms22l |
C |
A |
4: 24,588,224 (GRCm39) |
A952E |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,973,735 (GRCm39) |
N136S |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,943,218 (GRCm39) |
T31A |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,311,769 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,885 (GRCm39) |
F275S |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
| Orc3 |
C |
A |
4: 34,607,130 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
C |
1: 62,250,792 (GRCm39) |
M512L |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,136 (GRCm39) |
D150G |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,608,741 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
C |
2: 37,242,189 (GRCm39) |
I187S |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,419,449 (GRCm39) |
I51M |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,000,662 (GRCm39) |
T692S |
probably benign |
Het |
| Plcb2 |
C |
A |
2: 118,549,022 (GRCm39) |
V380F |
probably damaging |
Het |
| Pmpcb |
A |
T |
5: 21,947,950 (GRCm39) |
I218F |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,234,196 (GRCm39) |
Y773* |
probably null |
Het |
| Polr2e |
C |
T |
10: 79,872,615 (GRCm39) |
G184R |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,529,254 (GRCm39) |
I369V |
probably damaging |
Het |
| Pramel21 |
C |
T |
4: 143,342,366 (GRCm39) |
P158S |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,068,014 (GRCm39) |
|
probably benign |
Het |
| Pzp |
G |
A |
6: 128,500,939 (GRCm39) |
Q140* |
probably null |
Het |
| Qrich2 |
T |
A |
11: 116,332,221 (GRCm39) |
E2325V |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,307,858 (GRCm39) |
L373R |
probably damaging |
Het |
| Sema3d |
A |
T |
5: 12,558,104 (GRCm39) |
D212V |
possibly damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,565 (GRCm39) |
I850T |
probably damaging |
Het |
| Slc22a29 |
C |
T |
19: 8,140,106 (GRCm39) |
R433H |
possibly damaging |
Het |
| Sox21 |
G |
A |
14: 118,473,354 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
A |
G |
1: 120,155,379 (GRCm39) |
*527R |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,069,830 (GRCm39) |
E2652G |
possibly damaging |
Het |
| Taar2 |
T |
A |
10: 23,817,389 (GRCm39) |
F310I |
probably damaging |
Het |
| Tasor2 |
C |
A |
13: 3,625,550 (GRCm39) |
V1467L |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,286,307 (GRCm39) |
V783A |
probably benign |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,822 (GRCm39) |
I19N |
probably damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,332,190 (GRCm39) |
M276L |
probably benign |
Het |
| Yeats2 |
A |
C |
16: 20,040,427 (GRCm39) |
*142C |
probably null |
Het |
| Zfp26 |
G |
T |
9: 20,349,166 (GRCm39) |
T466K |
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,382,432 (GRCm39) |
N171S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCCCAGCATTTCTGCAAAAGCC -3'
(R):5'- TCTATGAACAACACATGGTGAGCCC -3'
Sequencing Primer
(F):5'- AAGCAGCCCCTCTATGTTTG -3'
(R):5'- AGCCCAATGGTTCATGTCTACAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation