Incidental Mutation 'R3710:Mael'
ID 259522
Institutional Source Beutler Lab
Gene Symbol Mael
Ensembl Gene ENSMUSG00000040629
Gene Name maelstrom spermatogenic transposon silencer
Synonyms 4933405K18Rik
MMRRC Submission 040703-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R3710 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 166028954-166066313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166066135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 34 (D34G)
Ref Sequence ENSEMBL: ENSMUSP00000045828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038782] [ENSMUST00000194057]
AlphaFold Q8BVN9
Predicted Effect probably damaging
Transcript: ENSMUST00000038782
AA Change: D34G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: D34G

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: D34G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: D34G

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
Meta Mutation Damage Score 0.3384 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Agbl2 G A 2: 90,636,152 (GRCm39) D563N probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Ank1 A G 8: 23,577,095 (GRCm39) D200G probably damaging Het
Ankrd28 A G 14: 31,470,808 (GRCm39) probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atrnl1 C A 19: 57,645,546 (GRCm39) H469N probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bud23 A C 5: 135,085,204 (GRCm39) S41A possibly damaging Het
Car12 G T 9: 66,658,260 (GRCm39) A21S probably damaging Het
Cav3 T A 6: 112,436,774 (GRCm39) M1K probably null Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Col2a1 A G 15: 97,888,788 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Csn3 C A 5: 88,077,882 (GRCm39) N129K possibly damaging Het
Diaph1 C A 18: 37,978,537 (GRCm39) G1209W probably damaging Het
Dsg2 A G 18: 20,735,174 (GRCm39) T1051A probably damaging Het
Gm1965 A T 6: 89,122,407 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsto1 T C 19: 47,847,971 (GRCm39) probably null Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Marchf6 A T 15: 31,509,972 (GRCm39) probably benign Het
Mtmr10 C A 7: 63,976,433 (GRCm39) A410D possibly damaging Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Nim1k A G 13: 120,173,635 (GRCm39) S420P probably benign Het
Nlrp4c T A 7: 6,068,627 (GRCm39) V176E probably damaging Het
Ogfod1 A T 8: 94,784,380 (GRCm39) K313* probably null Het
Or5an1 T G 19: 12,260,450 (GRCm39) F13V probably damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Otof A T 5: 30,542,610 (GRCm39) M661K probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Rimbp2 G A 5: 128,866,795 (GRCm39) T508I probably benign Het
Ros1 A T 10: 52,037,991 (GRCm39) C393* probably null Het
Rps17 T A 7: 80,994,672 (GRCm39) T30S probably benign Het
Rps3 T C 7: 99,128,626 (GRCm39) K197R probably benign Het
Samd11 G A 4: 156,334,952 (GRCm39) L109F probably damaging Het
Smarca2 T G 19: 26,646,290 (GRCm39) probably benign Het
Sprr2g C A 3: 92,282,036 (GRCm39) P30Q unknown Het
Spz1 G A 13: 92,711,631 (GRCm39) Q282* probably null Het
Syne3 A G 12: 104,909,697 (GRCm39) L713P possibly damaging Het
Tgm1 C A 14: 55,950,052 (GRCm39) probably benign Het
Tomm22 T C 15: 79,555,419 (GRCm39) F55L probably damaging Het
Tph2 T A 10: 115,009,963 (GRCm39) Y199F probably benign Het
Vmn2r108 A T 17: 20,682,932 (GRCm39) F757L probably benign Het
Vmn2r69 T A 7: 85,055,601 (GRCm39) T846S probably benign Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zc3hav1 A C 6: 38,309,097 (GRCm39) M575R probably benign 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
R3031:Mael UTSW 1 166,032,375 (GRCm39) missense probably damaging 1.00
R3709: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'- ATCCTCCCTCAAGAGCTTGG -3'
(R):5'- TGGAATCCAGTTTCAGGCTG -3'

Sequencing Primer
(F):5'- CGAGCTGTGAGGGTGAGGC -3'
(R):5'- ACCCTGATTGGCCAAGTG -3'
Posted On 2015-01-23