Incidental Mutation 'IGL00925:Slitrk4'
ID29579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk4
Ensembl Gene ENSMUSG00000046699
Gene NameSLIT and NTRK-like family, member 4
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00925
Quality Score
Status
ChromosomeX
Chromosomal Location64264885-64276996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 64272051 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,040 Y325N probably damaging Het
Atoh8 A G 6: 72,234,569 V199A probably benign Het
Celf2 A T 2: 6,721,577 D6E probably benign Het
Cep170 T C 1: 176,793,524 D29G probably damaging Het
Cpb2 T C 14: 75,260,750 Y118H possibly damaging Het
Esf1 A G 2: 140,167,817 S200P probably benign Het
Glmn A T 5: 107,557,327 N474K probably damaging Het
Maea T C 5: 33,372,301 V377A probably benign Het
Npepps A G 11: 97,280,283 V59A probably damaging Het
Ocrl A G X: 47,947,097 E565G probably benign Het
Olfr1043 T C 2: 86,162,920 T10A probably benign Het
Pclo T C 5: 14,766,741 S4544P unknown Het
Per3 T C 4: 151,013,598 Y693C probably benign Het
Prkacb G T 3: 146,748,042 P167H probably benign Het
Ptprt A G 2: 161,656,163 S837P possibly damaging Het
Sema7a G T 9: 57,955,838 C264F probably damaging Het
Tango6 T G 8: 106,695,445 probably benign Het
Tecta T C 9: 42,375,035 D775G probably benign Het
Tmem45a2 T A 16: 57,045,255 N189Y probably damaging Het
Ttc8 A G 12: 98,976,018 N364S probably damaging Het
Uhrf1 A G 17: 56,320,535 D697G probably benign Het
Vmn1r185 G A 7: 26,611,190 L297F probably benign Het
Vmn2r11 T C 5: 109,047,019 T814A probably benign Het
Wdr36 A G 18: 32,845,631 T198A possibly damaging Het
Zfhx2 G A 14: 55,073,061 P676L probably benign Het
Zfp451 A G 1: 33,776,261 probably benign Het
Other mutations in Slitrk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02139:Slitrk4 APN X 64270949 missense probably benign 0.01
IGL02397:Slitrk4 APN X 64272684 missense probably damaging 0.99
IGL02927:Slitrk4 APN X 64271327 missense possibly damaging 0.67
R1909:Slitrk4 UTSW X 64272623 missense probably damaging 0.99
R2006:Slitrk4 UTSW X 64270688 frame shift probably null
R2006:Slitrk4 UTSW X 64270689 frame shift probably null
Z1176:Slitrk4 UTSW X 64271457 missense probably damaging 0.99
Posted On2013-04-17