Incidental Mutation 'R4231:Slitrk6'
| ID |
320878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk6
|
| Ensembl Gene |
ENSMUSG00000045871 |
| Gene Name |
SLIT and NTRK-like family, member 6 |
| Synonyms |
4832410J21Rik |
| MMRRC Submission |
041050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4231 (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 110988820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 296
(S296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078386]
|
| AlphaFold |
Q8C110 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078386
AA Change: S296T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: S296T
| 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 |
0.0630 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
99% (75/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,701 (GRCm39) |
D1034G |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
| Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
| Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
| Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
| Irgm2 |
C |
T |
11: 58,110,304 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,138,189 (GRCm39) |
V880D |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
| Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
| Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,811,849 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
| Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
| Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,909,479 (GRCm39) |
M73T |
probably benign |
Het |
| Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
| Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
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'- ATATTGCGCTCCTGACAGTG -3'
(R):5'- ATAAGTGGGCCTGCAATTGTG -3'
Sequencing Primer
(F):5'- ATATTGCGCTCCTGACAGTGGATAAG -3'
(R):5'- TGGCTAGAAAATATGCCTCCAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation