Incidental Mutation 'R3709:Mael'
ID 259468
Institutional Source Beutler Lab
Gene Symbol Mael
Ensembl Gene ENSMUSG00000040629
Gene Name maelstrom spermatogenic transposon silencer
Synonyms 4933405K18Rik
MMRRC Submission 040702-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R3709 (G1)
Quality Score 190
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: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (50/51)
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
9930111J21Rik2 T G 11: 48,910,480 (GRCm39) D651A probably damaging Het
Abcb1a A G 5: 8,788,738 (GRCm39) N1039S probably benign Het
Abcc2 G T 19: 43,786,885 (GRCm39) V169F possibly damaging Het
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Armc8 A G 9: 99,402,550 (GRCm39) I333T probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc92b C A 11: 74,528,933 (GRCm39) R146S probably damaging Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cenpf A G 1: 189,381,009 (GRCm39) S2804P possibly damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Ctdp1 G A 18: 80,493,428 (GRCm39) Q356* probably null Het
Cyp2c69 A G 19: 39,839,667 (GRCm39) probably benign Het
Dhrs3 T C 4: 144,620,281 (GRCm39) probably null Het
Fhod3 T A 18: 25,223,815 (GRCm39) W1054R probably damaging Het
Gfral G A 9: 76,100,725 (GRCm39) R238* probably null Het
Gm10322 C A 10: 59,451,941 (GRCm39) D19E possibly damaging Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Idh3a T C 9: 54,493,810 (GRCm39) S4P possibly damaging Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Iqgap1 G A 7: 80,366,835 (GRCm39) T1595I possibly damaging Het
Kalrn C T 16: 34,212,400 (GRCm39) probably null Het
Klrb1a T C 6: 128,595,466 (GRCm39) D96G probably benign Het
Lrp1b C T 2: 40,587,454 (GRCm39) V165M unknown Het
Lrp4 A C 2: 91,320,811 (GRCm39) T975P possibly damaging Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Map2 C T 1: 66,455,015 (GRCm39) Q1302* probably null Het
Mctp1 T C 13: 76,972,999 (GRCm39) probably null Het
Mlxip T C 5: 123,585,537 (GRCm39) V642A probably benign Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Naa35 T A 13: 59,765,846 (GRCm39) probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Ncapd3 T A 9: 26,963,645 (GRCm39) N499K probably benign Het
Or10ab4 A G 7: 107,655,004 (GRCm39) M272V possibly damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Ptpn21 G T 12: 98,654,800 (GRCm39) S722R probably benign Het
Rab44 C T 17: 29,358,843 (GRCm39) P344S probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Sh3bp2 T C 5: 34,709,002 (GRCm39) Y32H probably damaging Het
Slc6a15 A G 10: 103,229,275 (GRCm39) I105V probably benign Het
Thumpd3 A G 6: 113,032,652 (GRCm39) D130G possibly damaging Het
Trib1 A G 15: 59,526,210 (GRCm39) Y260C probably damaging Het
Tsks G T 7: 44,601,309 (GRCm39) R208L possibly damaging Het
Ttn G T 2: 76,577,585 (GRCm39) S22690* probably null Het
Ttyh2 T G 11: 114,609,958 (GRCm39) S510A possibly damaging Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zfp267 T A 3: 36,213,725 (GRCm39) C20S possibly damaging Het
Zfp472 T A 17: 33,196,685 (GRCm39) Y253* 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
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'- ATCCTCCCTCAAGAGCTTGG -3'
(R):5'- GTGGAATCCAGTTTCAGGCTG -3'

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