Incidental Mutation 'R9499:Slitrk5'
ID |
717449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slitrk5
|
Ensembl Gene |
ENSMUSG00000033214 |
Gene Name |
SLIT and NTRK-like family, member 5 |
Synonyms |
2610019D03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.472)
|
Stock # |
R9499 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
111912547-111920576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111916496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 40
(T40I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042767]
[ENSMUST00000227891]
|
AlphaFold |
Q810B7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042767
AA Change: T40I
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000041499 Gene: ENSMUSG00000033214 AA Change: T40I
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
AA Change: T40I
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,526,102 (GRCm39) |
M851V |
possibly damaging |
Het |
Arhgef5 |
A |
T |
6: 43,260,940 (GRCm39) |
H1455L |
|
Het |
Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cep120 |
C |
A |
18: 53,819,033 (GRCm39) |
R886L |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Depdc7 |
C |
T |
2: 104,553,220 (GRCm39) |
|
probably null |
Het |
Dnaaf11 |
T |
C |
15: 66,361,483 (GRCm39) |
E6G |
probably damaging |
Het |
Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
Gm14401 |
C |
T |
2: 176,778,337 (GRCm39) |
A141V |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,638,179 (GRCm39) |
K418E |
probably benign |
Het |
Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
Het |
Hnrnpk |
A |
G |
13: 58,544,058 (GRCm39) |
S116P |
probably benign |
Het |
Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
Inpp5f |
A |
T |
7: 128,295,437 (GRCm39) |
I744F |
possibly damaging |
Het |
Kif14 |
C |
A |
1: 136,455,219 (GRCm39) |
S1630R |
probably damaging |
Het |
Madd |
T |
C |
2: 91,000,434 (GRCm39) |
T544A |
probably damaging |
Het |
Mbl2 |
G |
A |
19: 30,216,664 (GRCm39) |
A159T |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,152 (GRCm39) |
T388A |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,064,673 (GRCm39) |
E215V |
|
Het |
Nmd3 |
T |
C |
3: 69,647,329 (GRCm39) |
V277A |
possibly damaging |
Het |
Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
Patl1 |
T |
A |
19: 11,897,728 (GRCm39) |
M105K |
possibly damaging |
Het |
Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,127,855 (GRCm39) |
D937G |
probably damaging |
Het |
Phb1 |
G |
A |
11: 95,562,257 (GRCm39) |
V45I |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
Piezo2 |
T |
C |
18: 63,166,033 (GRCm39) |
E2066G |
possibly damaging |
Het |
Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
Polr1b |
C |
T |
2: 128,957,684 (GRCm39) |
R580* |
probably null |
Het |
Rexo5 |
A |
G |
7: 119,404,480 (GRCm39) |
E192G |
probably damaging |
Het |
Rpain |
T |
C |
11: 70,865,816 (GRCm39) |
S194P |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
Ssb |
T |
A |
2: 69,696,982 (GRCm39) |
D107E |
probably benign |
Het |
Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
Sult2a8 |
A |
C |
7: 14,157,487 (GRCm39) |
V116G |
probably damaging |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
Vmn1r24 |
T |
A |
6: 57,933,150 (GRCm39) |
I123F |
possibly damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,995,584 (GRCm39) |
N355Y |
probably damaging |
Het |
Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
Zfp1005 |
C |
A |
2: 150,109,856 (GRCm39) |
T182K |
unknown |
Het |
Zfp595 |
A |
T |
13: 67,465,067 (GRCm39) |
S402T |
probably damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,621 (GRCm39) |
E266G |
probably damaging |
Het |
Zfp827 |
T |
G |
8: 79,787,403 (GRCm39) |
W190G |
probably damaging |
Het |
Zscan4c |
T |
C |
7: 10,740,853 (GRCm39) |
V124A |
probably benign |
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 |
|
R3888: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 |
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'- GAGAGACTTGCTGATTACCCC -3'
(R):5'- GCCCCTGTGTAATTAACAAACTC -3'
Sequencing Primer
(F):5'- CCAGTAACTTTGGAACAGG -3'
(R):5'- CTCATTGGGATAGAGGCGGCTC -3'
|
Posted On |
2022-07-18 |