Incidental Mutation 'IGL02329:Meig1'
ID288588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meig1
Ensembl Gene ENSMUSG00000026650
Gene Namemeiosis expressed gene 1
SynonymsMeg1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL02329
Quality Score
Status
Chromosome2
Chromosomal Location3409043-3422648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3409251 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 71 (K71E)
Ref Sequence ENSEMBL: ENSMUSP00000110736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064685] [ENSMUST00000115081] [ENSMUST00000115082] [ENSMUST00000115083] [ENSMUST00000115084] [ENSMUST00000144584]
Predicted Effect probably damaging
Transcript: ENSMUST00000064685
AA Change: K71E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: K71E

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115081
AA Change: K71E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: K71E

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 86 6.3e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115082
AA Change: K71E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: K71E

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115083
AA Change: K71E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: K71E

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115084
AA Change: K71E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: K71E

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144584
SMART Domains Protein: ENSMUSP00000123118
Gene: ENSMUSG00000026650

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 65 6.1e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in Meig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Meig1 APN 2 3409274 missense probably damaging 1.00
IGL01311:Meig1 APN 2 3409208 missense possibly damaging 0.78
IGL02730:Meig1 APN 2 3411910 missense probably damaging 1.00
R1119:Meig1 UTSW 2 3409274 missense probably damaging 1.00
R1681:Meig1 UTSW 2 3409274 missense probably damaging 1.00
R2155:Meig1 UTSW 2 3409253 missense probably benign 0.08
R4387:Meig1 UTSW 2 3409241 missense probably damaging 1.00
R4787:Meig1 UTSW 2 3409214 missense possibly damaging 0.95
R4814:Meig1 UTSW 2 3411922 missense probably benign 0.14
R5145:Meig1 UTSW 2 3409226 missense probably damaging 0.98
R5694:Meig1 UTSW 2 3411962 missense probably damaging 0.99
R7843:Meig1 UTSW 2 3409211 missense probably damaging 1.00
R7926:Meig1 UTSW 2 3409211 missense probably damaging 1.00
R8061:Meig1 UTSW 2 3409203 missense not run
Posted On2015-04-16