Incidental Mutation 'R0050:Spin1'
ID18491
Institutional Source Beutler Lab
Gene Symbol Spin1
Ensembl Gene ENSMUSG00000021395
Gene Namespindlin 1
SynonymsSpin
MMRRC Submission 038344-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0050 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location51100880-51152546 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 51150418 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095797]
Predicted Effect probably benign
Transcript: ENSMUST00000095797
SMART Domains Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395

DomainStartEndE-ValueType
Pfam:Spin-Ssty 54 103 7.3e-30 PFAM
Pfam:Spin-Ssty 133 182 1.2e-26 PFAM
Pfam:Spin-Ssty 214 259 1.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223152
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.4%
  • 10x: 76.7%
  • 20x: 62.7%
Validation Efficiency 90% (86/96)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele display complete postnatal lethality. Although mutant female mice exhibit normal follicular development and oocyte growth, fully grown oocytes are defective in resuming meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,069,910 probably benign Het
Abca9 C T 11: 110,145,591 C564Y probably damaging Het
Abhd14a A T 9: 106,440,883 probably benign Het
Acnat2 G A 4: 49,380,586 T264I probably benign Het
Adamts2 T C 11: 50,775,395 V406A probably damaging Het
Adcy5 A G 16: 35,304,303 probably benign Het
Akr1c13 T C 13: 4,194,670 probably benign Het
Ankar T A 1: 72,656,164 E1093D probably damaging Het
Arhgef38 C A 3: 133,132,196 D75Y probably damaging Het
Asns T C 6: 7,676,019 I484V probably benign Het
Astn1 T C 1: 158,579,724 probably benign Het
Atg4b T A 1: 93,787,718 probably benign Het
Cadm2 A G 16: 66,953,266 probably benign Het
Ces2c T A 8: 104,848,199 M96K probably benign Het
Cpd T A 11: 76,792,859 T1025S possibly damaging Het
Daw1 T C 1: 83,180,365 V45A probably benign Het
Dmrt3 C A 19: 25,622,589 P266H probably damaging Het
Dnah10 A G 5: 124,830,744 T4416A probably benign Het
Dock9 A G 14: 121,607,225 V1124A probably benign Het
Ermp1 C A 19: 29,628,784 A190S probably damaging Het
Gm10267 T A 18: 44,156,453 probably benign Het
Golga2 T A 2: 32,292,127 V29D probably damaging Het
Gprc6a T A 10: 51,615,389 M755L probably damaging Het
H1foo G T 6: 115,947,768 K78N probably damaging Het
Lama1 A T 17: 67,782,056 D1574V possibly damaging Het
Lama3 T A 18: 12,404,103 H268Q probably damaging Het
Lmntd1 T C 6: 145,417,476 D107G probably damaging Het
Lrriq1 A G 10: 103,068,931 V1614A probably damaging Het
Mmp12 A G 9: 7,350,152 probably benign Het
Mre11a A G 9: 14,830,973 probably benign Het
Mtrf1l T C 10: 5,815,553 silent Het
Oaz2 A G 9: 65,687,802 E61G probably damaging Het
Parp3 A T 9: 106,471,401 D473E possibly damaging Het
Pear1 G T 3: 87,755,987 Y441* probably null Het
Pkhd1l1 A T 15: 44,573,807 T3493S possibly damaging Het
Ppp3cb A G 14: 20,531,752 V65A possibly damaging Het
Rheb A T 5: 24,817,834 probably benign Het
Ros1 G A 10: 52,101,803 T1449M probably damaging Het
Scn4a C G 11: 106,320,856 R1445P probably damaging Het
Sema3d T A 5: 12,584,953 M662K probably benign Het
Skp2 A G 15: 9,125,091 F134L probably benign Het
Slc6a12 T C 6: 121,360,419 probably benign Het
Slc8a3 T C 12: 81,315,265 Y260C probably damaging Het
Stx2 A G 5: 128,999,508 probably null Het
Sycp2 A T 2: 178,364,711 V863D probably damaging Het
Tgfb3 T A 12: 86,069,884 I127F possibly damaging Het
Tgif1 T G 17: 70,850,884 K2Q probably damaging Het
Trmt2a A T 16: 18,250,843 E234D probably damaging Het
Trps1 A T 15: 50,765,525 S696T probably benign Het
Ucp1 A G 8: 83,294,228 E191G probably damaging Het
Usp48 C A 4: 137,613,803 D371E probably damaging Het
Usp54 A T 14: 20,573,755 probably benign Het
Other mutations in Spin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Spin1 APN 13 51144541 splice site probably null
IGL02825:Spin1 APN 13 51123296 splice site probably benign
IGL03366:Spin1 APN 13 51127937 missense probably benign 0.03
R0139:Spin1 UTSW 13 51149012 missense probably benign 0.01
R0745:Spin1 UTSW 13 51139515 missense probably damaging 0.96
R1394:Spin1 UTSW 13 51144481 missense probably damaging 1.00
R1674:Spin1 UTSW 13 51149099 missense probably damaging 1.00
R1980:Spin1 UTSW 13 51144470 missense probably damaging 1.00
R2070:Spin1 UTSW 13 51144537 critical splice donor site probably null
R5326:Spin1 UTSW 13 51139527 missense probably damaging 1.00
R5741:Spin1 UTSW 13 51149135 missense possibly damaging 0.81
R6030:Spin1 UTSW 13 51139516 nonsense probably null
R6030:Spin1 UTSW 13 51139516 nonsense probably null
R6182:Spin1 UTSW 13 51144338 missense probably benign
R7423:Spin1 UTSW 13 51123290 critical splice donor site probably null
R7555:Spin1 UTSW 13 51149049 missense probably benign 0.02
Posted On2013-03-25