Incidental Mutation 'IGL02679:Spata21'
ID 303316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata21
Ensembl Gene ENSMUSG00000045004
Gene Name spermatogenesis associated 21
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02679
Quality Score
Status
Chromosome 4
Chromosomal Location 140815644-140840071 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 140838576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051907] [ENSMUST00000102487] [ENSMUST00000148204]
AlphaFold Q8BHW6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000039939
SMART Domains Protein: ENSMUSP00000035712
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 36 87 7.7e-19 PFAM
Pfam:SUZ-C 99 132 2.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051907
SMART Domains Protein: ENSMUSP00000053080
Gene: ENSMUSG00000045004

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 245 251 N/A INTRINSIC
low complexity region 319 335 N/A INTRINSIC
SCOP:d1mr8a_ 428 494 7e-13 SMART
PDB:2RRT|A 432 494 2e-7 PDB
low complexity region 524 540 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094549
SMART Domains Protein: ENSMUSP00000092128
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 37 88 7.9e-19 PFAM
Pfam:SUZ-C 100 133 2.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102487
SMART Domains Protein: ENSMUSP00000099545
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:SUZ 56 107 1.4e-17 PFAM
Pfam:SUZ-C 120 151 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148204
SMART Domains Protein: ENSMUSP00000115949
Gene: ENSMUSG00000040842

DomainStartEndE-ValueType
Pfam:SUZ 50 101 1.7e-18 PFAM
Pfam:SUZ-C 113 146 1.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181450
SMART Domains Protein: ENSMUSP00000138075
Gene: ENSMUSG00000097620

DomainStartEndE-ValueType
low complexity region 22 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187076
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,018,813 (GRCm39) probably benign Het
Adam5 A T 8: 25,296,542 (GRCm39) Y302N probably damaging Het
Ankrd34c A T 9: 89,612,132 (GRCm39) Y70N probably damaging Het
Asph G A 4: 9,601,349 (GRCm39) P190S possibly damaging Het
Atp6v1h T C 1: 5,194,525 (GRCm39) C235R probably damaging Het
Brwd1 A G 16: 95,804,023 (GRCm39) L2049P probably benign Het
Capn2 T A 1: 182,300,149 (GRCm39) I614F probably benign Het
Ccdc126 T A 6: 49,310,995 (GRCm39) M1K probably null Het
Cdh9 T C 15: 16,832,316 (GRCm39) I401T probably damaging Het
Cep57l1 T C 10: 41,605,382 (GRCm39) E121G probably damaging Het
Cfap46 A G 7: 139,194,386 (GRCm39) I2276T probably damaging Het
Cnnm3 T C 1: 36,559,239 (GRCm39) S490P probably benign Het
D430041D05Rik C T 2: 104,060,650 (GRCm39) V731I possibly damaging Het
Dynlt2b T C 16: 32,244,125 (GRCm39) V107A possibly damaging Het
Fgf3 C A 7: 144,394,487 (GRCm39) N100K probably damaging Het
Gas7 G A 11: 67,566,553 (GRCm39) probably null Het
Gfm1 C T 3: 67,382,100 (GRCm39) P725S possibly damaging Het
Gimap4 T A 6: 48,667,429 (GRCm39) C61* probably null Het
Greb1 C T 12: 16,758,724 (GRCm39) R664Q probably damaging Het
Kpnb1 T A 11: 97,068,086 (GRCm39) I295F possibly damaging Het
Lamc3 A G 2: 31,835,410 (GRCm39) E1577G probably benign Het
Lrrk1 C T 7: 65,924,620 (GRCm39) V235M probably damaging Het
Meak7 A T 8: 120,499,149 (GRCm39) D114E probably benign Het
Mipol1 T A 12: 57,352,829 (GRCm39) V56E possibly damaging Het
Mycbp2 T C 14: 103,442,621 (GRCm39) I1927V probably benign Het
Ncaph A T 2: 126,966,784 (GRCm39) N223K possibly damaging Het
Nipbl A G 15: 8,325,037 (GRCm39) M2542T probably benign Het
Nolc1 C A 19: 46,071,468 (GRCm39) probably benign Het
Or10j5 G A 1: 172,784,743 (GRCm39) C127Y probably damaging Het
Or51h1 A G 7: 102,308,384 (GRCm39) M119V possibly damaging Het
Pkhd1l1 T C 15: 44,393,441 (GRCm39) probably null Het
Ppat A T 5: 77,067,316 (GRCm39) C306S probably benign Het
Ptpn13 A T 5: 103,717,320 (GRCm39) M1821L possibly damaging Het
Rabl3 C T 16: 37,362,287 (GRCm39) S42L probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfx3 G A 19: 27,827,137 (GRCm39) H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 (GRCm39) M312V possibly damaging Het
Slc10a2 T A 8: 5,148,499 (GRCm39) T149S probably damaging Het
Stx8 G T 11: 67,860,598 (GRCm39) W6C probably damaging Het
Tcn2 T C 11: 3,877,504 (GRCm39) E48G possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tmem255b G A 8: 13,507,055 (GRCm39) M240I probably benign Het
Ubr4 G A 4: 139,186,445 (GRCm39) E651K probably damaging Het
Ubr5 T C 15: 38,002,558 (GRCm39) T1498A probably benign Het
Vmn2r95 G A 17: 18,664,116 (GRCm39) C445Y probably damaging Het
Zfp429 T A 13: 67,547,855 (GRCm39) probably benign Het
Zfp804b T G 5: 6,821,392 (GRCm39) D557A possibly damaging Het
Other mutations in Spata21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Spata21 APN 4 140,838,675 (GRCm39) splice site probably null
R1772:Spata21 UTSW 4 140,838,607 (GRCm39) missense possibly damaging 0.79
R1894:Spata21 UTSW 4 140,838,692 (GRCm39) missense possibly damaging 0.53
R1950:Spata21 UTSW 4 140,838,716 (GRCm39) missense probably damaging 0.99
R2015:Spata21 UTSW 4 140,834,640 (GRCm39) nonsense probably null
R2093:Spata21 UTSW 4 140,824,277 (GRCm39) missense probably benign 0.04
R2911:Spata21 UTSW 4 140,830,393 (GRCm39) missense possibly damaging 0.46
R4809:Spata21 UTSW 4 140,824,431 (GRCm39) critical splice donor site probably null
R4897:Spata21 UTSW 4 140,832,261 (GRCm39) missense probably damaging 0.99
R4907:Spata21 UTSW 4 140,824,432 (GRCm39) critical splice donor site probably null
R4921:Spata21 UTSW 4 140,839,402 (GRCm39) missense probably damaging 1.00
R5269:Spata21 UTSW 4 140,830,332 (GRCm39) missense probably damaging 1.00
R5380:Spata21 UTSW 4 140,834,496 (GRCm39) missense probably damaging 1.00
R5602:Spata21 UTSW 4 140,824,210 (GRCm39) missense probably benign
R6982:Spata21 UTSW 4 140,824,184 (GRCm39) missense possibly damaging 0.71
R7503:Spata21 UTSW 4 140,822,614 (GRCm39) missense probably benign 0.05
R7809:Spata21 UTSW 4 140,831,354 (GRCm39) missense probably null 0.83
R8072:Spata21 UTSW 4 140,839,317 (GRCm39) nonsense probably null
R8695:Spata21 UTSW 4 140,838,755 (GRCm39) critical splice donor site probably null
R8703:Spata21 UTSW 4 140,832,218 (GRCm39) missense probably benign 0.01
R8940:Spata21 UTSW 4 140,832,216 (GRCm39) missense probably damaging 1.00
R9462:Spata21 UTSW 4 140,831,316 (GRCm39) missense probably damaging 1.00
R9601:Spata21 UTSW 4 140,822,467 (GRCm39) missense possibly damaging 0.93
Z1177:Spata21 UTSW 4 140,825,313 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16