Incidental Mutation 'IGL01524:Spats2'
ID89510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spats2
Ensembl Gene ENSMUSG00000051934
Gene Namespermatogenesis associated, serine-rich 2
SynonymsScr59, 59kDa, 2700012F11Rik, p59
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.481) question?
Stock #IGL01524
Quality Score
Status
Chromosome15
Chromosomal Location99125916-99213215 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99212246 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 508 (A508V)
Ref Sequence ENSEMBL: ENSMUSP00000070549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063517]
Predicted Effect probably benign
Transcript: ENSMUST00000063517
AA Change: A508V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: A508V

DomainStartEndE-ValueType
Pfam:DUF1387 81 385 8.1e-125 PFAM
low complexity region 391 413 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Spats2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Spats2 APN 15 99180593 missense possibly damaging 0.88
IGL00696:Spats2 APN 15 99210894 missense probably damaging 1.00
IGL02496:Spats2 APN 15 99173448 missense probably damaging 1.00
IGL03031:Spats2 APN 15 99180688 missense probably benign 0.00
R0067:Spats2 UTSW 15 99212287 missense possibly damaging 0.64
R0067:Spats2 UTSW 15 99212287 missense possibly damaging 0.64
R0630:Spats2 UTSW 15 99186028 unclassified probably null
R1577:Spats2 UTSW 15 99178452 missense possibly damaging 0.94
R2012:Spats2 UTSW 15 99178494 missense probably damaging 0.97
R2229:Spats2 UTSW 15 99174453 critical splice donor site probably null
R2982:Spats2 UTSW 15 99211046 missense probably benign
R3743:Spats2 UTSW 15 99210914 missense probably benign 0.09
R4679:Spats2 UTSW 15 99180722 missense possibly damaging 0.62
R4857:Spats2 UTSW 15 99174420 missense probably damaging 1.00
R4962:Spats2 UTSW 15 99212276 missense probably benign 0.00
R5291:Spats2 UTSW 15 99178541 missense probably benign 0.16
R6879:Spats2 UTSW 15 99173412 missense probably damaging 1.00
R7187:Spats2 UTSW 15 99212173 missense probably benign 0.02
R7476:Spats2 UTSW 15 99212141 missense probably benign 0.00
R8084:Spats2 UTSW 15 99167080 missense possibly damaging 0.94
R8239:Spats2 UTSW 15 99208895 missense probably damaging 1.00
X0062:Spats2 UTSW 15 99178532 nonsense probably null
Posted On2013-12-03