Incidental Mutation 'R6736:Mei4'
ID528436
Institutional Source Beutler Lab
Gene Symbol Mei4
Ensembl Gene ENSMUSG00000043289
Gene Namemeiotic double-stranded break formation protein 4
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #R6736 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location81863670-82206007 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82025624 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 237 (M237L)
Ref Sequence ENSEMBL: ENSMUSP00000139589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057067] [ENSMUST00000189391] [ENSMUST00000189832]
Predicted Effect probably benign
Transcript: ENSMUST00000057067
AA Change: M336L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061341
Gene: ENSMUSG00000043289
AA Change: M336L

DomainStartEndE-ValueType
Pfam:Mei4 1 378 9.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189391
AA Change: M237L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139589
Gene: ENSMUSG00000043289
AA Change: M237L

DomainStartEndE-ValueType
Pfam:Mei4 1 280 2.5e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189832
SMART Domains Protein: ENSMUSP00000140647
Gene: ENSMUSG00000043289

DomainStartEndE-ValueType
Pfam:Mei4 1 306 3.8e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191743
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show meiotic defects including failure of double strand break formation and homologous synapsis. Mutant spermatocytes appear to arrest at a zygotene-like stage and undergo apoptosis while mutant ovaries show a nearly complete loss of follicles at adulthood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 8,992,268 I83T probably benign Het
Aadacl4 T G 4: 144,623,339 S389A possibly damaging Het
Abca13 A T 11: 9,465,058 S4042C probably damaging Het
Acaca G A 11: 84,238,838 V340I probably benign Het
Acox3 T A 5: 35,588,854 probably null Het
Acsl6 A C 11: 54,325,166 E124A probably damaging Het
Adamtsl1 T A 4: 86,342,247 H898Q probably damaging Het
Agl A G 3: 116,781,680 S603P probably damaging Het
Apobec1 A T 6: 122,581,675 M31K probably null Het
Armc4 C A 18: 7,223,586 V486F probably damaging Het
Astn1 T C 1: 158,511,148 probably null Het
Atp8a1 G T 5: 67,667,617 D790E probably damaging Het
Bahd1 T G 2: 118,915,975 M25R possibly damaging Het
BC034090 A T 1: 155,241,930 N147K possibly damaging Het
Bfsp2 G T 9: 103,480,204 A8E possibly damaging Het
Brwd1 A T 16: 96,068,572 I85N probably damaging Het
Ccdc24 T A 4: 117,870,535 N145I possibly damaging Het
Cdhr5 G T 7: 141,272,531 Q141K probably damaging Het
Cfap46 A G 7: 139,619,971 V1998A possibly damaging Het
Csmd1 T A 8: 16,002,626 Y2166F probably damaging Het
Cul4a T G 8: 13,136,219 S474A probably benign Het
Cutal A G 2: 34,888,137 T112A probably benign Het
Dcaf6 A C 1: 165,399,785 S258A possibly damaging Het
Dek C T 13: 47,099,390 V180M probably damaging Het
Dspp C A 5: 104,178,175 D801E unknown Het
Egflam T C 15: 7,219,725 T871A probably damaging Het
Erbin A T 13: 103,834,766 S781T possibly damaging Het
Erich6 A T 3: 58,625,054 H377Q probably damaging Het
Exo5 C A 4: 120,921,756 G304V probably damaging Het
Eya2 C A 2: 165,716,037 S184R possibly damaging Het
Fhod1 G A 8: 105,337,890 probably benign Het
G6pc3 A G 11: 102,193,670 Y302C possibly damaging Het
Gart T C 16: 91,636,107 D318G probably benign Het
Gm10300 T C 4: 132,074,935 probably benign Het
Gm11937 A G 11: 99,610,074 V39A probably damaging Het
Gm16432 T A 1: 178,017,712 Y99* probably null Het
Gm21994 T A 2: 150,255,278 Y77F possibly damaging Het
Gnas T C 2: 174,334,251 M60T probably damaging Het
Grk5 G T 19: 60,890,626 R16L probably damaging Het
Hcn3 A G 3: 89,152,674 L221P probably damaging Het
Hddc3 G A 7: 80,343,196 R20Q possibly damaging Het
Hectd4 T C 5: 121,277,725 Y530H possibly damaging Het
Igf2bp1 A T 11: 95,973,122 H247Q probably benign Het
Igkv4-70 T A 6: 69,267,928 D103V probably damaging Het
Itpr2 T A 6: 146,325,170 M1359L probably damaging Het
Kalrn A G 16: 34,217,923 L1013S probably damaging Het
Kctd21 C T 7: 97,348,084 R255W probably damaging Het
Krt18 T A 15: 102,030,769 Y263N probably benign Het
Lamp5 C G 2: 136,059,563 N102K possibly damaging Het
Larp1 G A 11: 58,042,647 probably null Het
Lmnb1 A G 18: 56,728,469 N144S probably damaging Het
Lrp2 T A 2: 69,448,211 T3933S probably benign Het
Lrrc34 T C 3: 30,624,859 N363S probably benign Het
Lrriq1 T C 10: 103,181,889 probably null Het
Mafa C A 15: 75,747,780 G48V unknown Het
Mboat4 T C 8: 34,124,521 S371P possibly damaging Het
Mfsd2a T C 4: 122,951,261 D219G probably benign Het
Msl2 A G 9: 101,101,002 N192D probably damaging Het
Mycbp2 C A 14: 103,191,567 R2358M probably null Het
Myh10 A G 11: 68,745,339 T185A probably damaging Het
Nipsnap2 T C 5: 129,745,288 probably null Het
Notch1 T C 2: 26,460,286 T2281A probably benign Het
Olfr1165-ps C A 2: 88,101,603 C128F probably benign Het
Olfr1436 G A 19: 12,298,572 Q187* probably null Het
Olfr376 G T 11: 73,375,576 V276F probably benign Het
Olfr533 T C 7: 140,466,887 S229P probably damaging Het
Olfr533 G T 7: 140,466,921 C240F probably damaging Het
Olfr735 A T 14: 50,345,448 N300K probably damaging Het
Olfr895 T A 9: 38,268,570 I19N probably damaging Het
Olfr948 A G 9: 39,318,793 S274P probably damaging Het
Oxct1 T A 15: 4,092,417 S283T probably benign Het
Pcnx2 G T 8: 125,752,317 probably null Het
Piwil4 A G 9: 14,715,823 F424L probably benign Het
Pkhd1l1 T C 15: 44,557,940 S3035P probably damaging Het
Psmc2 T A 5: 21,800,576 D218E probably damaging Het
Ptpn7 C T 1: 135,139,236 P277L probably benign Het
Rgs12 A G 5: 35,023,092 K27E probably damaging Het
Rp1l1 G T 14: 64,029,724 A920S possibly damaging Het
Rsbn1l A T 5: 20,908,224 H433Q probably benign Het
Safb C A 17: 56,606,023 P913Q possibly damaging Het
Sema7a G A 9: 57,960,571 V477M probably damaging Het
Serpina16 T A 12: 103,668,932 T408S possibly damaging Het
Six5 G A 7: 19,094,991 V119M possibly damaging Het
Slc6a16 C T 7: 45,259,028 P11S possibly damaging Het
Smg1 A G 7: 118,157,166 probably benign Het
Sntg1 T A 1: 8,445,050 I420F probably benign Het
Sptb T C 12: 76,613,180 D982G possibly damaging Het
Stag3 T A 5: 138,301,499 F891I probably damaging Het
Sugp1 A G 8: 70,059,303 E183G probably benign Het
Taf1d T C 9: 15,307,823 probably null Het
Tapbp T C 17: 33,919,957 S33P possibly damaging Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 probably benign Het
Ubap2 CT CTTGCCCCGGT 4: 41,227,224 probably benign Het
Ubash3a A G 17: 31,231,415 T355A probably benign Het
Usp16 T G 16: 87,470,397 V225G probably damaging Het
Utrn A G 10: 12,621,303 V2454A probably benign Het
Vmn1r191 G T 13: 22,179,550 F11L probably benign Het
Vmn2r117 A T 17: 23,478,308 C137S probably damaging Het
Zfp143 T C 7: 110,091,814 M524T probably damaging Het
Zfp599 A G 9: 22,249,844 C342R probably damaging Het
Zfp777 T G 6: 48,024,856 K811Q probably damaging Het
Zfp870 T A 17: 32,883,596 H254L probably benign Het
Other mutations in Mei4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Mei4 APN 9 81890182 missense probably damaging 1.00
LCD18:Mei4 UTSW 9 82186959 intron probably benign
R0069:Mei4 UTSW 9 82025582 nonsense probably null
R1525:Mei4 UTSW 9 81890199 missense probably damaging 1.00
R1605:Mei4 UTSW 9 81927586 missense possibly damaging 0.80
R1779:Mei4 UTSW 9 81927142 missense probably damaging 1.00
R3913:Mei4 UTSW 9 81890263 missense probably benign 0.04
R3941:Mei4 UTSW 9 81927283 missense probably benign
R4687:Mei4 UTSW 9 81927317 missense probably damaging 1.00
R4917:Mei4 UTSW 9 81890163 missense probably benign 0.02
R4918:Mei4 UTSW 9 81890163 missense probably benign 0.02
R5785:Mei4 UTSW 9 82025547 missense probably damaging 1.00
R6158:Mei4 UTSW 9 81927576 missense probably damaging 1.00
R6818:Mei4 UTSW 9 82025521 missense probably benign 0.00
R7147:Mei4 UTSW 9 81927596 missense probably damaging 1.00
R7445:Mei4 UTSW 9 81890239 missense possibly damaging 0.78
R7509:Mei4 UTSW 9 82025577 missense probably damaging 1.00
R8164:Mei4 UTSW 9 81927589 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTCCACCAATCAAAGATGCAGG -3'
(R):5'- AACCGCTAAGGCAACGATTC -3'

Sequencing Primer
(F):5'- TGACAATGTAGCCCTATGTAGTC -3'
(R):5'- CGCTAAGGCAACGATTCATTCTTAAC -3'
Posted On2018-07-24