Incidental Mutation 'R3888:Slitrk5'
ID |
312880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slitrk5
|
Ensembl Gene |
ENSMUSG00000033214 |
Gene Name |
SLIT and NTRK-like family, member 5 |
Synonyms |
2610019D03Rik |
MMRRC Submission |
040800-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.472)
|
Stock # |
R3888 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 111917229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 284
(C284*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042767]
[ENSMUST00000227891]
|
AlphaFold |
Q810B7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042767
AA Change: C284*
|
SMART Domains |
Protein: ENSMUSP00000041499 Gene: ENSMUSG00000033214 AA Change: C284*
Domain | Start | End | E-Value | Type |
Blast:LRRNT
|
47 |
85 |
3e-18 |
BLAST |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
LRR
|
108 |
127 |
2.76e2 |
SMART |
LRR_TYP
|
128 |
151 |
1.67e-2 |
SMART |
LRR
|
152 |
175 |
2.67e-1 |
SMART |
LRR
|
176 |
199 |
1.08e-1 |
SMART |
LRR
|
202 |
223 |
7.38e1 |
SMART |
LRRCT
|
235 |
285 |
2.13e-5 |
SMART |
low complexity region
|
308 |
323 |
N/A |
INTRINSIC |
LRRNT
|
373 |
410 |
9.53e-2 |
SMART |
LRR
|
433 |
455 |
1.45e1 |
SMART |
LRR_TYP
|
456 |
479 |
4.94e-5 |
SMART |
LRR_TYP
|
480 |
503 |
7.78e-3 |
SMART |
LRR_TYP
|
504 |
527 |
2.43e-4 |
SMART |
LRR
|
528 |
551 |
1.86e2 |
SMART |
LRRCT
|
563 |
613 |
3.59e-3 |
SMART |
low complexity region
|
618 |
632 |
N/A |
INTRINSIC |
transmembrane domain
|
666 |
688 |
N/A |
INTRINSIC |
low complexity region
|
794 |
816 |
N/A |
INTRINSIC |
low complexity region
|
818 |
823 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227891
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a null allele have abnormal medium spiny neuron morphology and exhibit behavioral abnormalities. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
Acbd6 |
A |
G |
1: 155,500,643 (GRCm39) |
D201G |
probably damaging |
Het |
Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,715,345 (GRCm39) |
K31I |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Cmya5 |
T |
G |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Frem1 |
T |
C |
4: 82,831,844 (GRCm39) |
R1991G |
probably benign |
Het |
Gimap7 |
G |
A |
6: 48,700,779 (GRCm39) |
E122K |
probably benign |
Het |
Hps3 |
A |
G |
3: 20,057,387 (GRCm39) |
|
probably null |
Het |
Kctd2 |
A |
T |
11: 115,318,345 (GRCm39) |
K209N |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,344,961 (GRCm39) |
V144A |
possibly damaging |
Het |
Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
Ntf3 |
T |
C |
6: 126,079,405 (GRCm39) |
M21V |
probably benign |
Het |
Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,497 (GRCm39) |
C216S |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,518,088 (GRCm39) |
D173E |
probably benign |
Het |
Or6c1 |
G |
A |
10: 129,518,087 (GRCm39) |
H174Y |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,097,375 (GRCm39) |
L70Q |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Smim17 |
G |
T |
7: 6,432,279 (GRCm39) |
G74C |
probably damaging |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Suv39h2 |
G |
A |
2: 3,465,845 (GRCm39) |
T170I |
probably benign |
Het |
Thrb |
A |
G |
14: 18,033,551 (GRCm38) |
K424R |
probably damaging |
Het |
Tm4sf4 |
C |
T |
3: 57,345,166 (GRCm39) |
Q191* |
probably null |
Het |
Trak1 |
G |
T |
9: 121,271,863 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,540,618 (GRCm39) |
S25796P |
probably damaging |
Het |
Ugp2 |
T |
C |
11: 21,303,366 (GRCm39) |
R80G |
probably benign |
Het |
Utp15 |
C |
T |
13: 98,395,674 (GRCm39) |
V103I |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,061,222 (GRCm39) |
S249T |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,748,743 (GRCm39) |
D86E |
probably damaging |
Het |
|
Other mutations in Slitrk5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:Slitrk5
|
APN |
14 |
111,918,097 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01624:Slitrk5
|
APN |
14 |
111,918,526 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01680:Slitrk5
|
APN |
14 |
111,916,432 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03234:Slitrk5
|
APN |
14 |
111,916,717 (GRCm39) |
missense |
probably benign |
0.00 |
P0019:Slitrk5
|
UTSW |
14 |
111,918,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0323:Slitrk5
|
UTSW |
14 |
111,919,055 (GRCm39) |
missense |
probably damaging |
0.99 |
R0334:Slitrk5
|
UTSW |
14 |
111,918,256 (GRCm39) |
missense |
probably benign |
|
R0392:Slitrk5
|
UTSW |
14 |
111,916,465 (GRCm39) |
missense |
probably benign |
0.06 |
R0659:Slitrk5
|
UTSW |
14 |
111,918,121 (GRCm39) |
missense |
probably benign |
0.00 |
R1344:Slitrk5
|
UTSW |
14 |
111,917,821 (GRCm39) |
missense |
probably benign |
0.04 |
R1754:Slitrk5
|
UTSW |
14 |
111,917,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R1983:Slitrk5
|
UTSW |
14 |
111,917,821 (GRCm39) |
missense |
probably benign |
0.04 |
R2070:Slitrk5
|
UTSW |
14 |
111,917,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R2071:Slitrk5
|
UTSW |
14 |
111,917,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R3001:Slitrk5
|
UTSW |
14 |
111,917,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R3002:Slitrk5
|
UTSW |
14 |
111,917,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R3003:Slitrk5
|
UTSW |
14 |
111,917,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R3885:Slitrk5
|
UTSW |
14 |
111,917,229 (GRCm39) |
nonsense |
probably null |
|
R3886:Slitrk5
|
UTSW |
14 |
111,917,229 (GRCm39) |
nonsense |
probably null |
|
R4962:Slitrk5
|
UTSW |
14 |
111,918,679 (GRCm39) |
missense |
probably benign |
0.02 |
R4999:Slitrk5
|
UTSW |
14 |
111,917,648 (GRCm39) |
missense |
probably damaging |
0.99 |
R5036:Slitrk5
|
UTSW |
14 |
111,918,316 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5190:Slitrk5
|
UTSW |
14 |
111,916,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R5237:Slitrk5
|
UTSW |
14 |
111,919,118 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5669:Slitrk5
|
UTSW |
14 |
111,919,055 (GRCm39) |
missense |
probably damaging |
0.99 |
R5793:Slitrk5
|
UTSW |
14 |
111,917,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Slitrk5
|
UTSW |
14 |
111,917,030 (GRCm39) |
missense |
probably benign |
0.00 |
R6083:Slitrk5
|
UTSW |
14 |
111,919,157 (GRCm39) |
missense |
probably benign |
0.01 |
R6224:Slitrk5
|
UTSW |
14 |
111,917,248 (GRCm39) |
unclassified |
probably benign |
|
R6225:Slitrk5
|
UTSW |
14 |
111,917,248 (GRCm39) |
unclassified |
probably benign |
|
R6230:Slitrk5
|
UTSW |
14 |
111,917,248 (GRCm39) |
unclassified |
probably benign |
|
R6337:Slitrk5
|
UTSW |
14 |
111,917,684 (GRCm39) |
missense |
probably damaging |
0.96 |
R6666:Slitrk5
|
UTSW |
14 |
111,917,534 (GRCm39) |
missense |
probably damaging |
0.96 |
R6818:Slitrk5
|
UTSW |
14 |
111,917,726 (GRCm39) |
missense |
probably benign |
0.32 |
R6895:Slitrk5
|
UTSW |
14 |
111,919,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R7094:Slitrk5
|
UTSW |
14 |
111,918,268 (GRCm39) |
missense |
probably benign |
0.02 |
R7385:Slitrk5
|
UTSW |
14 |
111,918,131 (GRCm39) |
missense |
probably benign |
0.32 |
R8532:Slitrk5
|
UTSW |
14 |
111,916,909 (GRCm39) |
missense |
probably benign |
|
R8994:Slitrk5
|
UTSW |
14 |
111,918,227 (GRCm39) |
missense |
probably benign |
0.00 |
R9344:Slitrk5
|
UTSW |
14 |
111,916,702 (GRCm39) |
missense |
probably damaging |
0.97 |
R9374:Slitrk5
|
UTSW |
14 |
111,916,496 (GRCm39) |
missense |
probably benign |
0.23 |
R9499:Slitrk5
|
UTSW |
14 |
111,916,496 (GRCm39) |
missense |
probably benign |
0.23 |
R9500:Slitrk5
|
UTSW |
14 |
111,916,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9512:Slitrk5
|
UTSW |
14 |
111,917,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Slitrk5
|
UTSW |
14 |
111,916,496 (GRCm39) |
missense |
probably benign |
0.23 |
Z1177:Slitrk5
|
UTSW |
14 |
111,917,285 (GRCm39) |
missense |
probably benign |
0.37 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAATTACAGCTGGAGG -3'
(R):5'- CTGGGGCCATAGTTACTGTAGC -3'
Sequencing Primer
(F):5'- GAGGAAAACCCCTGGAATTGCTC -3'
(R):5'- GGCCATAGTTACTGTAGCCCAAGTC -3'
|
Posted On |
2015-04-30 |