Incidental Mutation 'R4323:Slitrk3'
| ID |
323905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk3
|
| Ensembl Gene |
ENSMUSG00000048304 |
| Gene Name |
SLIT and NTRK-like family, member 3 |
| Synonyms |
ST3 |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
72954598-72965136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72958118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 218
(L218P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059407]
[ENSMUST00000192477]
|
| AlphaFold |
Q810B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059407
AA Change: L218P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: L218P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
44 |
79 |
3e-11 |
BLAST |
|
LRR
|
101 |
124 |
2.08e1 |
SMART |
|
LRR
|
125 |
148 |
6.05e0 |
SMART |
|
LRR
|
149 |
172 |
3.97e0 |
SMART |
|
LRR_TYP
|
173 |
196 |
1.67e-2 |
SMART |
|
LRR
|
197 |
220 |
2.69e2 |
SMART |
|
LRRCT
|
233 |
283 |
4.56e-5 |
SMART |
|
low complexity region
|
332 |
350 |
N/A |
INTRINSIC |
|
LRRNT
|
373 |
411 |
4.17e0 |
SMART |
|
LRR
|
432 |
455 |
1.62e0 |
SMART |
|
LRR_TYP
|
456 |
479 |
2.61e-4 |
SMART |
|
LRR
|
480 |
503 |
2.82e0 |
SMART |
|
LRR_TYP
|
504 |
527 |
6.99e-5 |
SMART |
|
LRRCT
|
563 |
613 |
3.22e-5 |
SMART |
|
transmembrane domain
|
658 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
888 |
N/A |
INTRINSIC |
|
Blast:LRRCT
|
906 |
943 |
2e-16 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192477
AA Change: L218P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: L218P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
44 |
79 |
3e-11 |
BLAST |
|
LRR
|
101 |
124 |
2.08e1 |
SMART |
|
LRR
|
125 |
148 |
6.05e0 |
SMART |
|
LRR
|
149 |
172 |
3.97e0 |
SMART |
|
LRR_TYP
|
173 |
196 |
1.67e-2 |
SMART |
|
LRR
|
197 |
220 |
2.69e2 |
SMART |
|
LRRCT
|
233 |
283 |
4.56e-5 |
SMART |
|
low complexity region
|
332 |
350 |
N/A |
INTRINSIC |
|
LRRNT
|
373 |
411 |
4.17e0 |
SMART |
|
LRR
|
432 |
455 |
1.62e0 |
SMART |
|
LRR_TYP
|
456 |
479 |
2.61e-4 |
SMART |
|
LRR
|
480 |
503 |
2.82e0 |
SMART |
|
LRR_TYP
|
504 |
527 |
6.99e-5 |
SMART |
|
LRRCT
|
563 |
613 |
3.22e-5 |
SMART |
|
transmembrane domain
|
658 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
888 |
N/A |
INTRINSIC |
|
Blast:LRRCT
|
906 |
943 |
2e-16 |
BLAST |
|
| Meta Mutation Damage Score |
0.4933 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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 family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out mice exhibit reduced inhibitory synapse density, decreased miniature inhibitory postsynaptic current frequency and increased susceptibility to spontaneous and pharmacologically-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slitrk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Slitrk3
|
APN |
3 |
72,958,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00857:Slitrk3
|
APN |
3 |
72,957,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Slitrk3
|
APN |
3 |
72,957,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01010:Slitrk3
|
APN |
3 |
72,956,606 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01299:Slitrk3
|
APN |
3 |
72,956,349 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01609:Slitrk3
|
APN |
3 |
72,957,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01881:Slitrk3
|
APN |
3 |
72,956,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01941:Slitrk3
|
APN |
3 |
72,958,404 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02183:Slitrk3
|
APN |
3 |
72,957,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02187:Slitrk3
|
APN |
3 |
72,957,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Slitrk3
|
APN |
3 |
72,958,046 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02512:Slitrk3
|
APN |
3 |
72,957,735 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02720:Slitrk3
|
APN |
3 |
72,958,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Slitrk3
|
APN |
3 |
72,957,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03224:Slitrk3
|
APN |
3 |
72,957,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
wee
|
UTSW |
3 |
72,958,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Slitrk3
|
UTSW |
3 |
72,955,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Slitrk3
|
UTSW |
3 |
72,955,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0639:Slitrk3
|
UTSW |
3 |
72,956,982 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1448:Slitrk3
|
UTSW |
3 |
72,957,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1656:Slitrk3
|
UTSW |
3 |
72,957,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1713:Slitrk3
|
UTSW |
3 |
72,957,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1992:Slitrk3
|
UTSW |
3 |
72,957,104 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1999:Slitrk3
|
UTSW |
3 |
72,957,297 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2359:Slitrk3
|
UTSW |
3 |
72,956,678 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3083:Slitrk3
|
UTSW |
3 |
72,955,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3153:Slitrk3
|
UTSW |
3 |
72,956,315 (GRCm39) |
nonsense |
probably null |
|
|
R3821:Slitrk3
|
UTSW |
3 |
72,956,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4208:Slitrk3
|
UTSW |
3 |
72,958,490 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4580:Slitrk3
|
UTSW |
3 |
72,958,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4730:Slitrk3
|
UTSW |
3 |
72,956,852 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4742:Slitrk3
|
UTSW |
3 |
72,955,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4979:Slitrk3
|
UTSW |
3 |
72,957,129 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5018:Slitrk3
|
UTSW |
3 |
72,957,845 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5023:Slitrk3
|
UTSW |
3 |
72,957,981 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5057:Slitrk3
|
UTSW |
3 |
72,957,981 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5156:Slitrk3
|
UTSW |
3 |
72,956,592 (GRCm39) |
missense |
probably benign |
|
|
R5500:Slitrk3
|
UTSW |
3 |
72,957,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Slitrk3
|
UTSW |
3 |
72,957,737 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5797:Slitrk3
|
UTSW |
3 |
72,955,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5963:Slitrk3
|
UTSW |
3 |
72,958,046 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5985:Slitrk3
|
UTSW |
3 |
72,958,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Slitrk3
|
UTSW |
3 |
72,957,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Slitrk3
|
UTSW |
3 |
72,957,247 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6529:Slitrk3
|
UTSW |
3 |
72,958,551 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6584:Slitrk3
|
UTSW |
3 |
72,956,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6645:Slitrk3
|
UTSW |
3 |
72,957,194 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7001:Slitrk3
|
UTSW |
3 |
72,957,942 (GRCm39) |
nonsense |
probably null |
|
|
R7282:Slitrk3
|
UTSW |
3 |
72,957,798 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7534:Slitrk3
|
UTSW |
3 |
72,957,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7577:Slitrk3
|
UTSW |
3 |
72,958,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7757:Slitrk3
|
UTSW |
3 |
72,958,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Slitrk3
|
UTSW |
3 |
72,956,729 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8354:Slitrk3
|
UTSW |
3 |
72,956,513 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8454:Slitrk3
|
UTSW |
3 |
72,956,513 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8488:Slitrk3
|
UTSW |
3 |
72,958,520 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8491:Slitrk3
|
UTSW |
3 |
72,958,592 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8843:Slitrk3
|
UTSW |
3 |
72,956,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9140:Slitrk3
|
UTSW |
3 |
72,957,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9451:Slitrk3
|
UTSW |
3 |
72,958,616 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9511:Slitrk3
|
UTSW |
3 |
72,958,272 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9575:Slitrk3
|
UTSW |
3 |
72,956,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9589:Slitrk3
|
UTSW |
3 |
72,957,981 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9603:Slitrk3
|
UTSW |
3 |
72,958,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Slitrk3
|
UTSW |
3 |
72,957,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slitrk3
|
UTSW |
3 |
72,956,103 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Slitrk3
|
UTSW |
3 |
72,956,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATTTCACGGAGATCCTTCC -3'
(R):5'- ACACCTTCCTTGGCTTAGAAAG -3'
Sequencing Primer
(F):5'- CGGAGATCCTTCCCATGGAAATG -3'
(R):5'- AGTCTGGAATATCTTCAGGCAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation