Incidental Mutation 'IGL01567:Spata48'
ID91019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata48
Ensembl Gene ENSMUSG00000020191
Gene Namespermatogenesis associated 48
Synonyms4930415F15Rik, post meiotic spermatogenesis 1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01567
Quality Score
Status
Chromosome11
Chromosomal Location11462094-11515192 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11515015 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 122 (H122R)
Ref Sequence ENSEMBL: ENSMUSP00000105300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020410] [ENSMUST00000109678]
Predicted Effect unknown
Transcript: ENSMUST00000020410
AA Change: H418R
SMART Domains Protein: ENSMUSP00000020410
Gene: ENSMUSG00000020191
AA Change: H418R

DomainStartEndE-ValueType
Pfam:DUF4540 90 217 2.5e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109678
AA Change: H122R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105300
Gene: ENSMUSG00000020191
AA Change: H122R

DomainStartEndE-ValueType
Pfam:DUF4540 17 146 4.6e-70 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Spata48
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1618:Spata48 UTSW 11 11488641 unclassified probably benign
R1625:Spata48 UTSW 11 11488644 unclassified probably benign
R2113:Spata48 UTSW 11 11490293 splice site probably null
R4788:Spata48 UTSW 11 11488652 splice site probably null
R5439:Spata48 UTSW 11 11490244 missense possibly damaging 0.53
R5932:Spata48 UTSW 11 11488513 unclassified probably benign
R6529:Spata48 UTSW 11 11515009 missense possibly damaging 0.71
Posted On2013-12-09