Incidental Mutation 'R3752:Mei1'
ID 271274
Institutional Source Beutler Lab
Gene Symbol Mei1
Ensembl Gene ENSMUSG00000068117
Gene Name meiotic double-stranded break formation protein 1
Synonyms mei1
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R3752 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81954275-82011018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81970383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 428 (T428M)
Ref Sequence ENSEMBL: ENSMUSP00000154974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119]
AlphaFold Q9D4I2
Predicted Effect possibly damaging
Transcript: ENSMUST00000089178
AA Change: T378M

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: T378M

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 possibly damaging
Transcript: ENSMUST00000186125
AA Change: T4M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000188048
AA Change: T4M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: T4M

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189540
AA Change: T4M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: T4M

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229119
AA Change: T428M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Or6a2 A T 7: 106,600,682 (GRCm39) Y128* probably null Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Snx1 A T 9: 66,012,933 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Vps35 A G 8: 86,001,460 (GRCm39) S453P probably benign Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A 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
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
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
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'- ATAGCCCCAGTCTCATGGCATC -3'
(R):5'- GTGAACAGCCTGATCTCCTCTG -3'

Sequencing Primer
(F):5'- ATCAGTTCAGGAGTTCAGCC -3'
(R):5'- CCTTTGCTTACCGAGTCA -3'
Posted On 2015-03-18