Incidental Mutation 'R1226:Mei1'
ID 152248
Institutional Source Beutler Lab
Gene Symbol Mei1
Ensembl Gene ENSMUSG00000068117
Gene Name meiotic double-stranded break formation protein 1
Synonyms mei1
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81954275-82011018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81964285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 275 (T275I)
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: T225I

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: T225I

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
SMART Domains Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189540
SMART Domains Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000229119
AA Change: T275I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
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
R1980:Mei1 UTSW 15 81,987,513 (GRCm39) missense probably benign 0.00
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'- TTCTGAACAGGCAACTTGATGGAACA -3'
(R):5'- CACTGGTCTGGAAGACAGGGCTAA -3'

Sequencing Primer
(F):5'- ATGGAACATCTGTTGAGGGGC -3'
(R):5'- Gacacacacacacacacacac -3'
Posted On 2014-01-29