Incidental Mutation 'R6504:Slitrk1'
| ID |
523641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slitrk1
|
| Ensembl Gene |
ENSMUSG00000075478 |
| Gene Name |
SLIT and NTRK-like family, member 1 |
| Synonyms |
3200001I04Rik |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
109147420-109151671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109149129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 527
(H527Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100322]
|
| AlphaFold |
Q810C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100322
AA Change: H527Q
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: H527Q
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
81 |
104 |
1.37e2 |
SMART |
|
LRR
|
105 |
128 |
1.37e1 |
SMART |
|
LRR
|
129 |
152 |
4.57e0 |
SMART |
|
LRR_TYP
|
153 |
176 |
2.75e-3 |
SMART |
|
LRR
|
180 |
200 |
1.92e2 |
SMART |
|
LRRCT
|
212 |
262 |
3.45e-5 |
SMART |
|
LRRNT
|
340 |
376 |
4.28e0 |
SMART |
|
LRR
|
374 |
397 |
1.86e1 |
SMART |
|
LRR
|
398 |
421 |
1.49e1 |
SMART |
|
LRR
|
422 |
445 |
2.68e1 |
SMART |
|
LRR
|
446 |
469 |
4.98e-1 |
SMART |
|
LRR_TYP
|
470 |
493 |
6.52e-5 |
SMART |
|
LRR
|
494 |
517 |
3.46e2 |
SMART |
|
LRRCT
|
529 |
579 |
3.91e-4 |
SMART |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
Het |
|
| Other mutations in Slitrk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Slitrk1
|
APN |
14 |
109,149,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00949:Slitrk1
|
APN |
14 |
109,149,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01556:Slitrk1
|
APN |
14 |
109,150,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Slitrk1
|
APN |
14 |
109,148,671 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02389:Slitrk1
|
APN |
14 |
109,149,754 (GRCm39) |
missense |
probably benign |
|
|
IGL02619:Slitrk1
|
APN |
14 |
109,149,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02828:Slitrk1
|
APN |
14 |
109,149,048 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0070:Slitrk1
|
UTSW |
14 |
109,150,749 (GRCm39) |
start gained |
probably benign |
|
|
R0135:Slitrk1
|
UTSW |
14 |
109,149,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Slitrk1
|
UTSW |
14 |
109,149,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Slitrk1
|
UTSW |
14 |
109,150,709 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
R1661:Slitrk1
|
UTSW |
14 |
109,149,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Slitrk1
|
UTSW |
14 |
109,150,528 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1960:Slitrk1
|
UTSW |
14 |
109,149,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1961:Slitrk1
|
UTSW |
14 |
109,149,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4247:Slitrk1
|
UTSW |
14 |
109,149,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4394:Slitrk1
|
UTSW |
14 |
109,148,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5027:Slitrk1
|
UTSW |
14 |
109,149,740 (GRCm39) |
missense |
probably benign |
|
|
R5241:Slitrk1
|
UTSW |
14 |
109,150,444 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5599:Slitrk1
|
UTSW |
14 |
109,149,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5835:Slitrk1
|
UTSW |
14 |
109,149,004 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6224:Slitrk1
|
UTSW |
14 |
109,149,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Slitrk1
|
UTSW |
14 |
109,148,735 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7102:Slitrk1
|
UTSW |
14 |
109,150,061 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7346:Slitrk1
|
UTSW |
14 |
109,150,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7413:Slitrk1
|
UTSW |
14 |
109,149,357 (GRCm39) |
nonsense |
probably null |
|
|
R8005:Slitrk1
|
UTSW |
14 |
109,150,697 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8258:Slitrk1
|
UTSW |
14 |
109,148,653 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8259:Slitrk1
|
UTSW |
14 |
109,148,653 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8906:Slitrk1
|
UTSW |
14 |
109,149,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9136:Slitrk1
|
UTSW |
14 |
109,148,981 (GRCm39) |
missense |
|
|
|
R9150:Slitrk1
|
UTSW |
14 |
109,149,101 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTAACGTGGGCGAGATC -3'
(R):5'- ACGCGATTCAGCTCATTCTC -3'
Sequencing Primer
(F):5'- AGATCCTCGCATACAGCTGG -3'
(R):5'- TTTCAATGCCATGCCGAAACTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation