Incidental Mutation 'R2239:Spin2c'
ID 240588
Institutional Source Beutler Lab
Gene Symbol Spin2c
Ensembl Gene ENSMUSG00000046550
Gene Name spindlin family, member 2C
Synonyms Spin2
MMRRC Submission 040239-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R2239 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 152615246-152617239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152616672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 162 (I162V)
Ref Sequence ENSEMBL: ENSMUSP00000059499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049999] [ENSMUST00000123264] [ENSMUST00000148708]
AlphaFold Q6NVE3
Predicted Effect probably damaging
Transcript: ENSMUST00000049999
AA Change: I162V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059499
Gene: ENSMUSG00000046550
AA Change: I162V

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
Pfam:Spin-Ssty 48 97 1.6e-30 PFAM
Pfam:Spin-Ssty 127 176 6.5e-27 PFAM
Pfam:Spin-Ssty 208 253 7.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123264
SMART Domains Protein: ENSMUSP00000115368
Gene: ENSMUSG00000046550

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
Pfam:Spin-Ssty 48 97 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148708
SMART Domains Protein: ENSMUSP00000120680
Gene: ENSMUSG00000046550

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
Pfam:Spin-Ssty 48 97 1.1e-29 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 94% (68/72)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm T A 1: 139,384,584 (GRCm39) I127K possibly damaging Het
Atp8b3 A G 10: 80,366,822 (GRCm39) C259R probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Ccdc47 G T 11: 106,092,960 (GRCm39) N100K possibly damaging Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Cnnm4 T A 1: 36,544,759 (GRCm39) S673T probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Dars2 T C 1: 160,890,852 (GRCm39) T120A possibly damaging Het
Dnah7b C A 1: 46,240,344 (GRCm39) probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Exoc1 T C 5: 76,707,557 (GRCm39) probably benign Het
Fam186a C T 15: 99,852,745 (GRCm39) V158M unknown Het
Fryl A G 5: 73,265,890 (GRCm39) L477P probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ift88 A G 14: 57,692,961 (GRCm39) I387V probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Map3k1 A C 13: 111,885,478 (GRCm39) S1480A probably benign Het
Map7 A T 10: 20,154,028 (GRCm39) N715Y unknown Het
Morn4 A G 19: 42,066,471 (GRCm39) Y39H possibly damaging Het
Myh14 A T 7: 44,314,607 (GRCm39) D105E probably damaging Het
Nfasc T C 1: 132,510,760 (GRCm39) probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or2aa1 A G 11: 59,480,097 (GRCm39) S273P possibly damaging Het
Or5ac23 T A 16: 59,149,738 (GRCm39) I45F probably damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
P4hb A G 11: 120,454,108 (GRCm39) Y329H probably damaging Het
Papolg A G 11: 23,826,378 (GRCm39) Y259H probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Pde4a G A 9: 21,122,564 (GRCm39) C820Y probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Phrf1 A G 7: 140,817,605 (GRCm39) E138G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc16a8 T C 15: 79,137,147 (GRCm39) M88V probably damaging Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tet1 T C 10: 62,715,513 (GRCm39) D94G probably benign Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C A 1: 188,308,411 (GRCm39) T2020K probably benign Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown Het
Other mutations in Spin2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Spin2c APN X 152,616,621 (GRCm39) missense probably damaging 1.00
R2237:Spin2c UTSW X 152,616,672 (GRCm39) missense probably damaging 0.99
R2238:Spin2c UTSW X 152,616,672 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGACTGGAACTTCACAGAGATG -3'
(R):5'- GTGAATGACCTTGCCTGTCCTC -3'

Sequencing Primer
(F):5'- TCACAGAGATGAAAGGATTTTAAAGC -3'
(R):5'- GACCTTGCCTGTCCTCTTGGAG -3'
Posted On 2014-10-15