Incidental Mutation 'R1980:Mei1'
ID 222205
Institutional Source Beutler Lab
Gene Symbol Mei1
Ensembl Gene ENSMUSG00000068117
Gene Name meiotic double-stranded break formation protein 1
Synonyms mei1
MMRRC Submission 039992-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R1980 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81954275-82011018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81987513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 859 (N859S)
Ref Sequence ENSEMBL: ENSMUSP00000154974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119]
AlphaFold Q9D4I2
Predicted Effect probably benign
Transcript: ENSMUST00000089178
AA Change: N809S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: N809S

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
SCOP:d1gw5a_ 123 498 1e-3 SMART
low complexity region 956 966 N/A INTRINSIC
low complexity region 1025 1045 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186125
Predicted Effect probably benign
Transcript: ENSMUST00000188048
AA Change: N435S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: N435S

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189540
AA Change: N435S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: N435S

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229119
AA Change: N859S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,386,702 (GRCm39) I620S possibly damaging Het
Acot8 A G 2: 164,636,964 (GRCm39) F262S probably damaging Het
Adgb C T 10: 10,309,242 (GRCm39) V246I probably benign Het
Akap9 T A 5: 4,022,771 (GRCm39) M1200K probably damaging Het
Alg11 T A 8: 22,551,903 (GRCm39) F16I possibly damaging Het
Apol7c A G 15: 77,410,244 (GRCm39) V234A probably benign Het
Arhgap19 T G 19: 41,776,784 (GRCm39) I122L possibly damaging Het
Arhgef37 A G 18: 61,641,767 (GRCm39) S201P probably damaging Het
Asgr1 A T 11: 69,945,772 (GRCm39) D16V probably damaging Het
Camta2 A T 11: 70,573,308 (GRCm39) C227S probably benign Het
Cd22 A T 7: 30,572,658 (GRCm39) L317Q probably damaging Het
Cenpf A T 1: 189,386,112 (GRCm39) I2056K probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Ciapin1 C T 8: 95,559,161 (GRCm39) V43I probably benign Het
Cox5b-ps T G 13: 21,685,294 (GRCm39) T99P possibly damaging Het
Dach1 A G 14: 98,068,777 (GRCm39) L601P probably damaging Het
Ddx11 T A 17: 66,455,734 (GRCm39) L711Q probably damaging Het
Dsg1a A T 18: 20,471,707 (GRCm39) N653I probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Galnt5 T C 2: 57,914,735 (GRCm39) probably null Het
Gemin5 A G 11: 58,027,743 (GRCm39) L935P probably damaging Het
Gm9507 A T 10: 77,647,519 (GRCm39) C53* probably null Het
Irgm2 A G 11: 58,110,902 (GRCm39) I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 A C 14: 100,387,162 (GRCm39) probably null Het
Lpp C T 16: 24,480,451 (GRCm39) P73L probably damaging Het
Lrrc34 G A 3: 30,696,890 (GRCm39) H127Y probably benign Het
Lyar T C 5: 38,382,053 (GRCm39) S12P probably damaging Het
Maml3 A G 3: 52,011,473 (GRCm39) I31T unknown Het
Minar2 T A 18: 59,208,739 (GRCm39) M129K probably damaging Het
Mysm1 A T 4: 94,840,450 (GRCm39) N655K probably benign Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrxn1 A G 17: 91,395,746 (GRCm39) W137R probably benign Het
Numb C T 12: 83,844,118 (GRCm39) probably null Het
Obsl1 A G 1: 75,482,480 (GRCm39) F130S probably damaging Het
Or2h1 T G 17: 37,404,295 (GRCm39) Q157P probably damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Pbx4 T C 8: 70,322,776 (GRCm39) V294A probably benign Het
Pde4dip A C 3: 97,664,312 (GRCm39) L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 (GRCm39) A319T probably benign Het
Ppid A T 3: 79,500,925 (GRCm39) I32F probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr27 A G 5: 87,991,261 (GRCm39) E291G probably benign Het
Psme4 A T 11: 30,782,615 (GRCm39) K923N possibly damaging Het
Rab25 T C 3: 88,450,765 (GRCm39) T45A probably damaging Het
Rapgef1 C T 2: 29,612,239 (GRCm39) P630S probably benign Het
Rasa2 T C 9: 96,452,821 (GRCm39) D355G probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rtn4 A T 11: 29,658,634 (GRCm39) E929D probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Slk T G 19: 47,600,428 (GRCm39) I151S probably damaging Het
Spin1 T A 13: 51,298,506 (GRCm39) V175D probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tmem151b G C 17: 45,856,387 (GRCm39) P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 (GRCm39) Y10S probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 T C 7: 63,858,182 (GRCm39) Y225H possibly damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Tyro3 A G 2: 119,639,298 (GRCm39) D335G probably benign Het
Unc79 C A 12: 102,977,538 (GRCm39) Y180* probably null Het
Upp1 A T 11: 9,084,872 (GRCm39) D197V possibly damaging Het
Vmn1r226 T A 17: 20,908,308 (GRCm39) M180K possibly damaging Het
Vtn T A 11: 78,392,724 (GRCm39) I434N probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp819 A G 7: 43,265,885 (GRCm39) T47A probably benign Het
Zyg11b G A 4: 108,123,127 (GRCm39) T280I probably damaging Het
Other mutations in Mei1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Mei1 APN 15 81,973,753 (GRCm39) missense probably damaging 0.99
IGL01776:Mei1 APN 15 81,980,133 (GRCm39) critical splice donor site probably null
IGL01864:Mei1 APN 15 81,997,218 (GRCm39) splice site probably benign
IGL02030:Mei1 APN 15 81,999,944 (GRCm39) missense probably benign
IGL02148:Mei1 APN 15 81,976,912 (GRCm39) nonsense probably null
R0135:Mei1 UTSW 15 81,956,170 (GRCm39) nonsense probably null
R0212:Mei1 UTSW 15 81,980,132 (GRCm39) critical splice donor site probably null
R0537:Mei1 UTSW 15 81,975,562 (GRCm39) missense possibly damaging 0.93
R0605:Mei1 UTSW 15 81,954,351 (GRCm39) missense probably benign
R0727:Mei1 UTSW 15 81,954,350 (GRCm39) missense probably benign 0.01
R1118:Mei1 UTSW 15 82,000,068 (GRCm39) splice site probably benign
R1226:Mei1 UTSW 15 81,964,285 (GRCm39) missense possibly damaging 0.92
R1339:Mei1 UTSW 15 81,966,196 (GRCm39) missense possibly damaging 0.66
R1558:Mei1 UTSW 15 81,991,334 (GRCm39) missense probably damaging 1.00
R1769:Mei1 UTSW 15 81,996,771 (GRCm39) splice site probably null
R1868:Mei1 UTSW 15 82,009,154 (GRCm39) missense probably damaging 1.00
R1981:Mei1 UTSW 15 81,987,513 (GRCm39) missense probably benign 0.00
R1982:Mei1 UTSW 15 81,987,513 (GRCm39) missense probably benign 0.00
R2103:Mei1 UTSW 15 81,991,237 (GRCm39) missense probably damaging 0.99
R2103:Mei1 UTSW 15 81,987,405 (GRCm39) missense possibly damaging 0.91
R2207:Mei1 UTSW 15 81,987,450 (GRCm39) missense probably benign 0.08
R2444:Mei1 UTSW 15 81,997,142 (GRCm39) missense probably damaging 1.00
R3009:Mei1 UTSW 15 81,996,726 (GRCm39) missense probably damaging 0.97
R3114:Mei1 UTSW 15 82,009,160 (GRCm39) missense probably benign 0.31
R3546:Mei1 UTSW 15 81,982,243 (GRCm39) missense probably damaging 0.97
R3720:Mei1 UTSW 15 81,987,405 (GRCm39) missense possibly damaging 0.91
R3721:Mei1 UTSW 15 81,987,405 (GRCm39) missense possibly damaging 0.91
R3722:Mei1 UTSW 15 81,987,405 (GRCm39) missense possibly damaging 0.91
R3752:Mei1 UTSW 15 81,970,383 (GRCm39) missense probably damaging 0.97
R3778:Mei1 UTSW 15 81,966,209 (GRCm39) missense probably damaging 1.00
R3848:Mei1 UTSW 15 81,997,218 (GRCm39) splice site probably benign
R3933:Mei1 UTSW 15 81,967,353 (GRCm39) missense possibly damaging 0.75
R4274:Mei1 UTSW 15 82,009,064 (GRCm39) missense possibly damaging 0.66
R4765:Mei1 UTSW 15 81,996,686 (GRCm39) missense possibly damaging 0.96
R5070:Mei1 UTSW 15 81,961,804 (GRCm39) missense possibly damaging 0.66
R5394:Mei1 UTSW 15 81,976,957 (GRCm39) missense possibly damaging 0.83
R6108:Mei1 UTSW 15 81,959,389 (GRCm39) missense possibly damaging 0.66
R6302:Mei1 UTSW 15 81,987,439 (GRCm39) nonsense probably null
R6849:Mei1 UTSW 15 81,964,146 (GRCm39) missense possibly damaging 0.92
R6913:Mei1 UTSW 15 81,973,810 (GRCm39) missense probably benign 0.06
R6919:Mei1 UTSW 15 81,966,131 (GRCm39) missense probably damaging 0.98
R6959:Mei1 UTSW 15 82,009,076 (GRCm39) missense probably benign 0.01
R7007:Mei1 UTSW 15 81,978,200 (GRCm39) missense probably damaging 0.99
R7202:Mei1 UTSW 15 81,976,843 (GRCm39) missense
R7374:Mei1 UTSW 15 81,980,109 (GRCm39) missense
R7438:Mei1 UTSW 15 81,999,682 (GRCm39) missense
R7757:Mei1 UTSW 15 81,966,824 (GRCm39) intron probably benign
R7857:Mei1 UTSW 15 81,976,918 (GRCm39) missense not run
R8265:Mei1 UTSW 15 81,987,508 (GRCm39) nonsense probably null
R8728:Mei1 UTSW 15 81,966,182 (GRCm39) missense
R8902:Mei1 UTSW 15 81,954,212 (GRCm39) missense unknown
R9048:Mei1 UTSW 15 81,969,036 (GRCm39) nonsense probably null
R9233:Mei1 UTSW 15 81,973,752 (GRCm39) missense
R9285:Mei1 UTSW 15 81,985,170 (GRCm39) missense
R9660:Mei1 UTSW 15 81,966,098 (GRCm39) missense
R9689:Mei1 UTSW 15 81,997,129 (GRCm39) missense
R9728:Mei1 UTSW 15 81,966,098 (GRCm39) missense
RF051:Mei1 UTSW 15 81,954,211 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCCGTGATCAGTGCAATCAG -3'
(R):5'- TTAGCAGGGCCTACACTCAC -3'

Sequencing Primer
(F):5'- CGTGATCAGTGCAATCAGAAAGTTCC -3'
(R):5'- CTGGGATACTGGTATGCATCACC -3'
Posted On 2014-08-25