Incidental Mutation 'R2227:Spin2g'
ID 239820
Institutional Source Beutler Lab
Gene Symbol Spin2g
Ensembl Gene ENSMUSG00000095659
Gene Name spindlin family, member 2G
Synonyms Spin2-ps5, Gm21582
MMRRC Submission 040228-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2227 (G1)
Quality Score 107
Status Not validated
Chromosome X
Chromosomal Location 33656424-33657916 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33656599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 171 (I171N)
Ref Sequence ENSEMBL: ENSMUSP00000137578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178425] [ENSMUST00000203586]
AlphaFold A0A0N4SW15
Predicted Effect possibly damaging
Transcript: ENSMUST00000178425
AA Change: I171N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137578
Gene: ENSMUSG00000095659
AA Change: I171N

DomainStartEndE-ValueType
Pfam:Spin-Ssty 21 70 1.8e-27 PFAM
Pfam:Spin-Ssty 100 149 7.2e-21 PFAM
Pfam:Spin-Ssty 180 225 6.9e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203586
AA Change: I179N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145332
Gene: ENSMUSG00000095659
AA Change: I179N

DomainStartEndE-ValueType
Pfam:Spin-Ssty 29 78 2.4e-24 PFAM
Pfam:Spin-Ssty 108 157 9.5e-18 PFAM
Pfam:Spin-Ssty 188 233 9.1e-16 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik T A 14: 60,325,668 (GRCm39) probably benign Het
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Agl A T 3: 116,581,961 (GRCm39) V306D possibly damaging Het
Alpk2 T A 18: 65,511,147 (GRCm39) T17S probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
BB014433 C A 8: 15,091,717 (GRCm39) A379S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Ccl2 G T 11: 81,927,427 (GRCm39) probably null Het
Cct2 T C 10: 116,888,922 (GRCm39) R526G probably null Het
Cep55 T C 19: 38,051,082 (GRCm39) M164T probably benign Het
Clec2d G A 6: 129,161,214 (GRCm39) A104T probably benign Het
Cyp3a11 A G 5: 145,805,357 (GRCm39) L220P possibly damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exoc2 T A 13: 31,048,867 (GRCm39) I729L probably benign Het
Fbxl20 T C 11: 97,981,675 (GRCm39) I338V probably benign Het
Gucy2c G A 6: 136,679,758 (GRCm39) T943I probably damaging Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17rb A T 14: 29,728,038 (GRCm39) S56R probably benign Het
Knl1 A G 2: 118,902,481 (GRCm39) D1394G probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt6b A G 15: 101,587,557 (GRCm39) V179A probably damaging Het
Lpar5 A T 6: 125,058,098 (GRCm39) probably null Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Myl1 T C 1: 66,983,974 (GRCm39) K31E possibly damaging Het
Myt1l T A 12: 29,876,969 (GRCm39) L207I unknown Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Rc3h1 T C 1: 160,791,112 (GRCm39) I932T probably benign Het
Rubcnl G A 14: 75,279,832 (GRCm39) R405Q probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slco1a8 T G 6: 141,938,087 (GRCm39) E277D possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r86 T C 7: 12,836,847 (GRCm39) I10V probably benign Het
Xpot T C 10: 121,458,765 (GRCm39) R20G probably damaging Het
Zfp735 T A 11: 73,602,222 (GRCm39) L389I possibly damaging Het
Zfp735 T G 11: 73,602,223 (GRCm39) L389* probably null Het
Other mutations in Spin2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2224:Spin2g UTSW X 33,656,599 (GRCm39) missense possibly damaging 0.85
R2226:Spin2g UTSW X 33,656,599 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TCTACATTTGTGACAATGCCGTG -3'
(R):5'- ATCATCTATTTGAGGGTGAGCATG -3'

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