Incidental Mutation 'R7382:Mael'
ID 572770
Institutional Source Beutler Lab
Gene Symbol Mael
Ensembl Gene ENSMUSG00000040629
Gene Name maelstrom spermatogenic transposon silencer
Synonyms 4933405K18Rik
MMRRC Submission 045464-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R7382 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 166028954-166066313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 166029167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 419 (P419S)
Ref Sequence ENSEMBL: ENSMUSP00000045828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038782] [ENSMUST00000194057]
AlphaFold Q8BVN9
Predicted Effect probably benign
Transcript: ENSMUST00000038782
AA Change: P419S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: P419S

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 benign
Transcript: ENSMUST00000194057
AA Change: P405S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: P405S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,903,103 (GRCm39) H404Q probably damaging Het
Aadacl2fm2 T A 3: 59,651,037 (GRCm39) M53K probably benign Het
Adam8 T A 7: 139,570,020 (GRCm39) T82S possibly damaging Het
Adgrl2 T G 3: 148,522,919 (GRCm39) Q435P Het
Ahr A T 12: 35,554,514 (GRCm39) M535K probably damaging Het
Akap6 A G 12: 53,188,954 (GRCm39) I2123V probably benign Het
Ankrd2 G T 19: 42,033,411 (GRCm39) G318C Het
Ap4e1 T A 2: 126,850,822 (GRCm39) probably null Het
Atp8a2 G A 14: 59,892,043 (GRCm39) P1102S probably benign Het
Cacna2d4 C T 6: 119,216,048 (GRCm39) S105F probably damaging Het
Cad C A 5: 31,233,173 (GRCm39) P1872T probably benign Het
Catsperg1 A G 7: 28,904,269 (GRCm39) F251L probably benign Het
Ccdc18 C A 5: 108,286,873 (GRCm39) Q136K probably damaging Het
Cd163 A G 6: 124,288,271 (GRCm39) probably null Het
Cd209d A T 8: 3,927,965 (GRCm39) Y46* probably null Het
Cdk5rap2 A T 4: 70,208,262 (GRCm39) M728K probably benign Het
Cdon A G 9: 35,389,944 (GRCm39) D866G probably damaging Het
Cenpl A G 1: 160,906,031 (GRCm39) H135R probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Clstn2 A T 9: 97,681,451 (GRCm39) L63* probably null Het
Cpeb4 A G 11: 31,822,828 (GRCm39) T181A probably damaging Het
Dlgap1 A G 17: 71,094,169 (GRCm39) E830G probably damaging Het
Endou T A 15: 97,616,807 (GRCm39) K239* probably null Het
Ezh2 T C 6: 47,528,770 (GRCm39) N263S possibly damaging Het
Fbxw2 T C 2: 34,697,314 (GRCm39) D351G probably benign Het
Fer1l4 A T 2: 155,862,669 (GRCm39) Y1720* probably null Het
Fmo9 A T 1: 166,491,229 (GRCm39) probably null Het
Frmpd1 T A 4: 45,278,880 (GRCm39) V535E probably benign Het
Fxr2 T C 11: 69,532,382 (GRCm39) V139A probably benign Het
Gpr180 T G 14: 118,400,035 (GRCm39) V401G possibly damaging Het
Heatr5b G T 17: 79,110,936 (GRCm39) R971S possibly damaging Het
Igkv8-34 C A 6: 70,021,103 (GRCm39) A120S probably benign Het
Inpp5b T A 4: 124,645,370 (GRCm39) H219Q probably benign Het
Itprid1 G T 6: 55,955,404 (GRCm39) G1004V probably benign Het
Kremen2 T C 17: 23,962,526 (GRCm39) probably null Het
Map1a A G 2: 121,121,266 (GRCm39) T102A probably damaging Het
Mfsd2a A T 4: 122,845,916 (GRCm39) I119N possibly damaging Het
Muc5b T C 7: 141,412,685 (GRCm39) V1877A unknown Het
Myo5c A C 9: 75,211,332 (GRCm39) S1733R probably damaging Het
Nelfcd T C 2: 174,265,176 (GRCm39) V248A probably benign Het
Npc1 A T 18: 12,334,763 (GRCm39) I663N probably damaging Het
Olig3 T A 10: 19,232,413 (GRCm39) S13T unknown Het
Or1j17 G T 2: 36,578,046 (GRCm39) E11* probably null Het
Or8k39 T C 2: 86,563,129 (GRCm39) I276V probably benign Het
Piezo2 A C 18: 63,150,590 (GRCm39) probably null Het
Pkd1l2 G T 8: 117,781,610 (GRCm39) L812M possibly damaging Het
Plcd1 G A 9: 118,903,759 (GRCm39) T387I probably damaging Het
Ppara C T 15: 85,671,429 (GRCm39) S110L probably damaging Het
Ranbp9 C T 13: 43,578,590 (GRCm39) R161Q probably damaging Het
Rufy2 G T 10: 62,833,748 (GRCm39) R270L probably benign Het
Septin12 C T 16: 4,806,346 (GRCm39) E272K probably damaging Het
Sgms1 T C 19: 32,137,182 (GRCm39) E128G possibly damaging Het
Sh3bgr G A 16: 96,007,093 (GRCm39) S21N probably benign Het
Sil1 A T 18: 35,458,466 (GRCm39) D176E probably benign Het
Slc13a2 A T 11: 78,295,621 (GRCm39) Y82N probably damaging Het
Slc41a1 C T 1: 131,774,370 (GRCm39) P479L probably damaging Het
Smarca4 A G 9: 21,570,229 (GRCm39) K744R probably damaging Het
Stxbp1 T C 2: 32,688,180 (GRCm39) D495G probably damaging Het
Sugp2 T C 8: 70,695,494 (GRCm39) S156P probably benign Het
Syt3 A T 7: 44,042,170 (GRCm39) D343V probably damaging Het
Tbl3 G T 17: 24,924,265 (GRCm39) T164N probably benign Het
Tbpl2 A T 2: 23,977,326 (GRCm39) probably null Het
Tcf7l2 T A 19: 55,915,172 (GRCm39) W461R unknown Het
Tmprss11c A T 5: 86,379,723 (GRCm39) F395Y probably benign Het
Tnc A T 4: 63,932,280 (GRCm39) Y711* probably null Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc41 A G 10: 86,612,374 (GRCm39) K1216E probably damaging Het
Ube2q2 A C 9: 55,070,298 (GRCm39) D80A probably damaging Het
Ube2u A T 4: 100,389,379 (GRCm39) K227* probably null Het
Uhrf2 T C 19: 30,048,788 (GRCm39) Y265H possibly damaging Het
Vmn1r208 T G 13: 22,956,756 (GRCm39) Y247S probably damaging Het
Vmn2r27 A G 6: 124,174,276 (GRCm39) C525R probably damaging Het
Vps13a T C 19: 16,596,849 (GRCm39) T3090A probably damaging Het
Whrn T C 4: 63,336,573 (GRCm39) K674R probably benign Het
Zfp202 G T 9: 40,122,801 (GRCm39) R521I probably damaging Het
Zfp433 T C 10: 81,556,659 (GRCm39) V387A probably benign Het
Zpld1 T C 16: 55,067,046 (GRCm39) 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
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
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
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'- AGTGCCAAGATCTTCTCCAAC -3'
(R):5'- AGTGCCTCGTTATGATGCG -3'

Sequencing Primer
(F):5'- CAAGATCTTCTCCAACCACAATTAC -3'
(R):5'- GCGCATATAAAATCACATGTCTGG -3'
Posted On 2019-09-13