Incidental Mutation 'P0016:Slain1'
ID7586
Institutional Source Beutler Lab
Gene Symbol Slain1
Ensembl Gene ENSMUSG00000055717
Gene NameSLAIN motif family, member 1
Synonyms9630044O09Rik
MMRRC Submission 038269-MU
Accession Numbers

NCBI RefSeq: NM_198014.2; MGI:2145578

Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #P0016 (G1)
Quality Score
Status Validated
Chromosome14
Chromosomal Location103650228-103704907 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103685674 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000125128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069443] [ENSMUST00000160805] [ENSMUST00000162818]
Predicted Effect probably benign
Transcript: ENSMUST00000069443
AA Change: T234A

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000070592
Gene: ENSMUSG00000055717
AA Change: T234A

DomainStartEndE-ValueType
SCOP:d1gw5a_ 13 72 2e-3 SMART
low complexity region 91 102 N/A INTRINSIC
low complexity region 105 120 N/A INTRINSIC
low complexity region 129 173 N/A INTRINSIC
Pfam:SLAIN 185 237 6.7e-19 PFAM
Pfam:SLAIN 230 579 1.7e-138 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159456
AA Change: T74A
SMART Domains Protein: ENSMUSP00000125685
Gene: ENSMUSG00000055717
AA Change: T74A

DomainStartEndE-ValueType
Pfam:SLAIN 15 420 4e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160805
AA Change: T187A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125128
Gene: ENSMUSG00000055717
AA Change: T187A

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 32 76 N/A INTRINSIC
Pfam:SLAIN 88 532 2.6e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162818
AA Change: T68A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123742
Gene: ENSMUSG00000055717
AA Change: T68A

DomainStartEndE-ValueType
Pfam:SLAIN 19 212 2e-86 PFAM
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 81.0%
  • 10x: 66.8%
  • 20x: 50.1%
Validation Efficiency 96% (97/101)
Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,938 L154* probably null Het
4930432E11Rik T C 7: 29,563,112 noncoding transcript Het
Arap3 T A 18: 37,984,348 T892S probably benign Het
Ctnnd2 G A 15: 30,966,938 V987I probably benign Het
Dennd6b T C 15: 89,186,977 I351V probably benign Het
Kif27 G A 13: 58,303,452 Q1021* probably null Het
Klb G A 5: 65,379,923 W865* probably null Het
Mbd1 C T 18: 74,274,538 R130* probably null Het
Mroh7 T A 4: 106,707,857 probably null Het
Myo16 C T 8: 10,400,596 probably benign Het
Rbm22 T A 18: 60,570,770 probably benign Het
Rnaseh2a C G 8: 84,959,800 D206H probably damaging Het
Slamf6 A G 1: 171,936,501 T154A probably damaging Het
Traip A G 9: 107,968,656 D316G possibly damaging Het
Ttn T C 2: 76,811,183 D5196G probably damaging Het
Ubr5 C T 15: 38,000,578 V1569M probably damaging Het
Zfp750 T A 11: 121,513,978 K24* probably null Het
Zfp799 T C 17: 32,819,357 E645G possibly damaging Het
Other mutations in Slain1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Slain1 APN 14 103685777 missense probably damaging 1.00
R0113:Slain1 UTSW 14 103685825 splice site probably benign
R0547:Slain1 UTSW 14 103695275 missense probably damaging 1.00
R2113:Slain1 UTSW 14 103650846 missense possibly damaging 0.81
R4986:Slain1 UTSW 14 103688105 missense probably damaging 1.00
R6368:Slain1 UTSW 14 103656955 missense probably benign 0.03
R6899:Slain1 UTSW 14 103650779 missense possibly damaging 0.93
R7355:Slain1 UTSW 14 103702576 frame shift probably null
R7442:Slain1 UTSW 14 103685714 missense probably damaging 1.00
R7498:Slain1 UTSW 14 103655993 splice site probably null
R7910:Slain1 UTSW 14 103685764 missense probably damaging 1.00
R8043:Slain1 UTSW 14 103688346 missense possibly damaging 0.95
Z1177:Slain1 UTSW 14 103684234 missense probably damaging 0.97
Protein Function and Prediction

SLAIN1, along with SLAIN2, have been identified as microtubule plus-end tracking proteins (1).  Further studies determined that SLAIN1 promotes axonal development (2;3).

Expression/Localization

Northern blot and semiquantitative RT-PCR analyses detected Slain1 expression in mouse thymus, bone marrow, brain, heart, kidney, lung, and testis (4).  High Slain1 expression was observed at the stem cell and epiblast stages of mouse embryonic stem cell development (4). In situ hybridization found that Slain1 is expressed in the neural tube and optic vesicles at day 8.5, and then at sites of imminent neural tube closure in the midbrain, hindbrain, and tailbud and in the dorsal aspects of somites (4).

References
Posted On2012-10-05
Science WriterAnne Murray