Incidental Mutation 'IGL00907:Mael'
ID26614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mael
Ensembl Gene ENSMUSG00000040629
Gene Namemaelstrom spermatogenic transposon silencer
Synonyms4933405K18Rik
Accession Numbers

Genbank: NM_175296; MGI: 2138453

Is this an essential gene? Possibly essential (E-score: 0.605) question?
Stock #IGL00907
Quality Score
Status
Chromosome1
Chromosomal Location166201201-166238747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 166204849 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 314 (Y314H)
Ref Sequence ENSEMBL: ENSMUSP00000141652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038782] [ENSMUST00000194057]
Predicted Effect probably damaging
Transcript: ENSMUST00000038782
AA Change: Y328H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: Y328H

DomainStartEndE-ValueType
Pfam:HMG_box_2 2 73 4.4e-27 PFAM
Pfam:Maelstrom 128 329 1.6e-58 PFAM
low complexity region 399 407 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194057
AA Change: Y314H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: Y314H

DomainStartEndE-ValueType
Pfam:HMG_box_2 2 73 1.6e-24 PFAM
Pfam:Maelstrom 128 314 2.6e-43 PFAM
low complexity region 385 393 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Mael
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Mael APN 1 166202350 missense possibly damaging 0.89
D4043:Mael UTSW 1 166236886 missense probably benign 0.00
R0218:Mael UTSW 1 166238590 missense probably damaging 1.00
R0811:Mael UTSW 1 166235399 critical splice donor site probably null
R0812:Mael UTSW 1 166235399 critical splice donor site probably null
R1544:Mael UTSW 1 166202290 missense probably benign 0.28
R2096:Mael UTSW 1 166225675 missense probably benign 0.41
R2914:Mael UTSW 1 166226610 missense probably damaging 1.00
R3031:Mael UTSW 1 166204806 missense probably damaging 1.00
R3709:Mael UTSW 1 166238566 missense probably damaging 0.99
R3710:Mael UTSW 1 166238566 missense probably damaging 0.99
R3880:Mael UTSW 1 166236868 splice site probably benign
R4594:Mael UTSW 1 166235487 missense probably damaging 1.00
R4669:Mael UTSW 1 166235508 missense probably damaging 1.00
R7382:Mael UTSW 1 166201598 missense probably benign 0.00
R8024:Mael UTSW 1 166226627 missense probably damaging 0.99
R8519:Mael UTSW 1 166235558 critical splice acceptor site probably null
X0018:Mael UTSW 1 166201568 missense probably benign
Posted On2013-04-17