Incidental Mutation 'R3031:Mael'
ID 264715
Institutional Source Beutler Lab
Gene Symbol Mael
Ensembl Gene ENSMUSG00000040629
Gene Name maelstrom spermatogenic transposon silencer
Synonyms 4933405K18Rik
MMRRC Submission 040547-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R3031 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 166028954-166066313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166032375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 328 (D328G)
Ref Sequence ENSEMBL: ENSMUSP00000141652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038782] [ENSMUST00000194057]
AlphaFold Q8BVN9
Predicted Effect probably damaging
Transcript: ENSMUST00000038782
AA Change: D342G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: D342G

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: D328G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: D328G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,193,863 (GRCm39) V753L probably damaging Het
Ap3b1 T C 13: 94,702,151 (GRCm39) L1068P unknown Het
Cacna1h C A 17: 25,652,108 (GRCm39) R12L probably damaging Het
Cbln4 A G 2: 171,884,100 (GRCm39) V40A probably damaging Het
Ccdc170 T C 10: 4,468,931 (GRCm39) S160P probably damaging Het
Cdc37 T C 9: 21,054,487 (GRCm39) E46G possibly damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Dsg1a A T 18: 20,473,549 (GRCm39) D874V probably damaging Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hydin A G 8: 111,329,848 (GRCm39) R4861G possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lipe T C 7: 25,084,320 (GRCm39) E588G possibly damaging Het
Mboat7 A G 7: 3,681,687 (GRCm39) V398A probably benign Het
Slc35e1 A G 8: 73,238,735 (GRCm39) W258R probably benign Het
Slc9a8 A G 2: 167,293,201 (GRCm39) D183G probably damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sult3a1 G A 10: 33,753,345 (GRCm39) D214N possibly damaging Het
Traf3ip1 T C 1: 91,447,822 (GRCm39) V433A probably damaging Het
Ubxn7 T A 16: 32,194,125 (GRCm39) D232E probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vps13c T C 9: 67,831,052 (GRCm39) S1561P probably benign Het
Wdr48 T C 9: 119,753,176 (GRCm39) V593A probably benign Het
Zfp58 A G 13: 67,640,231 (GRCm39) F87L probably benign Het
Zfp663 A T 2: 165,195,616 (GRCm39) L201* probably null Het
Other mutations in Mael
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Mael APN 1 166,032,418 (GRCm39) missense probably damaging 1.00
IGL01153:Mael APN 1 166,029,919 (GRCm39) missense possibly damaging 0.89
D4043:Mael UTSW 1 166,064,455 (GRCm39) missense probably benign 0.00
R0218:Mael UTSW 1 166,066,159 (GRCm39) missense probably damaging 1.00
R0811:Mael UTSW 1 166,062,968 (GRCm39) critical splice donor site probably null
R0812:Mael UTSW 1 166,062,968 (GRCm39) critical splice donor site probably null
R1544:Mael UTSW 1 166,029,859 (GRCm39) missense probably benign 0.28
R2096:Mael UTSW 1 166,053,244 (GRCm39) missense probably benign 0.41
R2914:Mael UTSW 1 166,054,179 (GRCm39) missense probably damaging 1.00
R3709:Mael UTSW 1 166,066,135 (GRCm39) missense probably damaging 0.99
R3710:Mael UTSW 1 166,066,135 (GRCm39) missense probably damaging 0.99
R3880:Mael UTSW 1 166,064,437 (GRCm39) splice site probably benign
R4594:Mael UTSW 1 166,063,056 (GRCm39) missense probably damaging 1.00
R4669:Mael UTSW 1 166,063,077 (GRCm39) missense probably damaging 1.00
R7382:Mael UTSW 1 166,029,167 (GRCm39) missense probably benign 0.00
R8024:Mael UTSW 1 166,054,196 (GRCm39) missense probably damaging 0.99
R8519:Mael UTSW 1 166,063,127 (GRCm39) critical splice acceptor site probably null
R8793:Mael UTSW 1 166,029,257 (GRCm39) missense probably benign 0.41
R9090:Mael UTSW 1 166,032,424 (GRCm39) missense probably benign 0.01
R9147:Mael UTSW 1 166,029,259 (GRCm39) missense probably benign 0.08
R9148:Mael UTSW 1 166,029,259 (GRCm39) missense probably benign 0.08
R9271:Mael UTSW 1 166,032,424 (GRCm39) missense probably benign 0.01
R9382:Mael UTSW 1 166,053,282 (GRCm39) missense probably damaging 0.97
X0018:Mael UTSW 1 166,029,137 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGATTGCCCAGTTGACTTGC -3'
(R):5'- ACCTGAATGCTTTAGAGTGAACC -3'

Sequencing Primer
(F):5'- CCTGGATGGCATGGATTTCAAAAC -3'
(R):5'- GAGTGAACCAAATCAAGTTGCTC -3'
Posted On 2015-02-05