Incidental Mutation 'IGL00502:Spata21'
ID6540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata21
Ensembl Gene ENSMUSG00000045004
Gene Namespermatogenesis associated 21
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL00502
Quality Score
Status
Chromosome4
Chromosomal Location141088333-141112760 bp(+) (GRCm38)
Type of Mutationunclassified (1637 bp from exon)
DNA Base Change (assembly) C to A at 141111364 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051907] [ENSMUST00000102487] [ENSMUST00000148204]
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
AA Change: N575K

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000053080
Gene: ENSMUSG00000045004
AA Change: N575K

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 null
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 null
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gm20388 T C 8: 124,328,098 M204T probably damaging Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Ndufb5 T A 3: 32,744,899 V55D probably damaging Het
Nostrin T C 2: 69,183,992 S431P probably benign Het
Papd5 C T 8: 88,252,258 Q63* probably null Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Spata21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Spata21 APN 4 141111265 unclassified probably benign
R1772:Spata21 UTSW 4 141111296 missense possibly damaging 0.79
R1894:Spata21 UTSW 4 141111381 missense possibly damaging 0.53
R1950:Spata21 UTSW 4 141111405 missense probably damaging 0.99
R2015:Spata21 UTSW 4 141107329 nonsense probably null
R2093:Spata21 UTSW 4 141096966 missense probably benign 0.04
R2911:Spata21 UTSW 4 141103082 missense possibly damaging 0.46
R4809:Spata21 UTSW 4 141097120 critical splice donor site probably null
R4897:Spata21 UTSW 4 141104950 missense probably damaging 0.99
R4907:Spata21 UTSW 4 141097121 critical splice donor site probably null
R4921:Spata21 UTSW 4 141112091 missense probably damaging 1.00
R5269:Spata21 UTSW 4 141103021 missense probably damaging 1.00
R5380:Spata21 UTSW 4 141107185 missense probably damaging 1.00
R5602:Spata21 UTSW 4 141096899 missense probably benign
R6982:Spata21 UTSW 4 141096873 missense possibly damaging 0.71
R7503:Spata21 UTSW 4 141095303 missense probably benign 0.05
Posted On2012-04-20