Incidental Mutation 'IGL01924:Spindoc'
ID180192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spindoc
Ensembl Gene ENSMUSG00000024970
Gene Namespindlin interactor and repressor of chromatin binding
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL01924
Quality Score
Status
Chromosome19
Chromosomal Location7356464-7383026 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7382677 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 42 (L42P)
Ref Sequence ENSEMBL: ENSMUSP00000025924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025924]
Predicted Effect probably damaging
Transcript: ENSMUST00000025924
AA Change: L42P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025924
Gene: ENSMUSG00000024970
AA Change: L42P

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Blast:ZnF_C2H2 91 115 1e-6 BLAST
low complexity region 186 203 N/A INTRINSIC
low complexity region 243 256 N/A INTRINSIC
low complexity region 304 315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186160
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Spindoc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02288:Spindoc APN 19 7358302 nonsense probably null
R0513:Spindoc UTSW 19 7374144 missense probably benign
R0831:Spindoc UTSW 19 7374735 missense probably benign 0.45
R1444:Spindoc UTSW 19 7382721 missense probably benign
R1636:Spindoc UTSW 19 7374557 missense probably damaging 1.00
R3732:Spindoc UTSW 19 7374301 missense probably damaging 1.00
R3732:Spindoc UTSW 19 7374301 missense probably damaging 1.00
R3733:Spindoc UTSW 19 7374301 missense probably damaging 1.00
R4365:Spindoc UTSW 19 7373854 missense possibly damaging 0.56
R4785:Spindoc UTSW 19 7374091 missense probably benign
R5227:Spindoc UTSW 19 7374147 missense probably benign 0.00
R5982:Spindoc UTSW 19 7374595 missense probably damaging 1.00
R5987:Spindoc UTSW 19 7373659 missense probably benign 0.19
R6538:Spindoc UTSW 19 7382699 missense probably benign 0.17
R6718:Spindoc UTSW 19 7358416 missense probably damaging 0.99
R7102:Spindoc UTSW 19 7358442 missense probably benign 0.00
R7272:Spindoc UTSW 19 7382720 missense possibly damaging 0.77
R8348:Spindoc UTSW 19 7358404 missense possibly damaging 0.64
R8448:Spindoc UTSW 19 7358404 missense possibly damaging 0.64
Posted On2014-05-07