Incidental Mutation 'IGL00925:Slitrk4'
| ID |
29579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slitrk4
|
| Ensembl Gene |
ENSMUSG00000046699 |
| Gene Name |
SLIT and NTRK-like family, member 4 |
| Synonyms |
D930039I09Rik |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL00925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
63308491-63320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63315657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 337
(P337T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069926]
[ENSMUST00000114679]
[ENSMUST00000156121]
|
| AlphaFold |
Q810B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069926
AA Change: P337T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064443
Gene: ENSMUSG00000046699
AA Change: P337T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
LRR
|
82 |
105 |
2.84e1 |
SMART |
|
LRR_TYP
|
106 |
129 |
1.45e-2 |
SMART |
|
LRR
|
130 |
153 |
2.33e1 |
SMART |
|
LRR_TYP
|
154 |
177 |
1.38e-3 |
SMART |
|
LRR
|
178 |
201 |
1.12e2 |
SMART |
|
LRRCT
|
213 |
263 |
5.87e-8 |
SMART |
|
LRRNT
|
341 |
378 |
1.76e0 |
SMART |
|
LRR
|
400 |
423 |
1.57e1 |
SMART |
|
LRR_TYP
|
424 |
447 |
2.79e-4 |
SMART |
|
LRR_TYP
|
448 |
471 |
2.2e-2 |
SMART |
|
LRR_TYP
|
472 |
495 |
8.02e-5 |
SMART |
|
LRRCT
|
531 |
581 |
3.45e-5 |
SMART |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114679
AA Change: P337T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110327
Gene: ENSMUSG00000046699
AA Change: P337T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
LRR
|
82 |
105 |
2.84e1 |
SMART |
|
LRR_TYP
|
106 |
129 |
1.45e-2 |
SMART |
|
LRR
|
130 |
153 |
2.33e1 |
SMART |
|
LRR_TYP
|
154 |
177 |
1.38e-3 |
SMART |
|
LRR
|
178 |
201 |
1.12e2 |
SMART |
|
LRRCT
|
213 |
263 |
5.87e-8 |
SMART |
|
LRRNT
|
341 |
378 |
1.76e0 |
SMART |
|
LRR
|
400 |
423 |
1.57e1 |
SMART |
|
LRR_TYP
|
424 |
447 |
2.79e-4 |
SMART |
|
LRR_TYP
|
448 |
471 |
2.2e-2 |
SMART |
|
LRR_TYP
|
472 |
495 |
8.02e-5 |
SMART |
|
LRRCT
|
531 |
581 |
3.45e-5 |
SMART |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156121
|
| SMART Domains |
Protein: ENSMUSP00000122648
Gene: ENSMUSG00000046699
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
Pfam:LRR_8
|
59 |
110 |
6e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,498,190 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,737 (GRCm39) |
S200P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,035,974 (GRCm39) |
E565G |
probably benign |
Het |
| Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
| Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
| Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
| Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
| Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,618 (GRCm39) |
N189Y |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,535 (GRCm39) |
D697G |
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slitrk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02139:Slitrk4
|
APN |
X |
63,314,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02397:Slitrk4
|
APN |
X |
63,316,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02927:Slitrk4
|
APN |
X |
63,314,933 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1909:Slitrk4
|
UTSW |
X |
63,316,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2006:Slitrk4
|
UTSW |
X |
63,314,295 (GRCm39) |
frame shift |
probably null |
|
|
R2006:Slitrk4
|
UTSW |
X |
63,314,294 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Slitrk4
|
UTSW |
X |
63,315,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation