Incidental Mutation 'IGL01311:Meig1'
ID73671
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: 0.105) question?
Stock #IGL01311
Quality Score
Status
Chromosome2
Chromosomal Location3409043-3422648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3409208 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 85 (V85D)
Ref Sequence ENSEMBL: ENSMUSP00000110736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064685] [ENSMUST00000115081] [ENSMUST00000115082] [ENSMUST00000115083] [ENSMUST00000115084] [ENSMUST00000144584]
Predicted Effect possibly damaging
Transcript: ENSMUST00000064685
AA Change: V85D

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: V85D

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115081
AA Change: V85D

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: V85D

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 86 6.3e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115082
AA Change: V85D

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: V85D

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115083
AA Change: V85D

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: V85D

DomainStartEndE-ValueType
Pfam:Meiosis_expr 11 87 1.4e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115084
AA Change: V85D

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: V85D

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,754,020 V531I probably benign Het
Arap1 A T 7: 101,388,136 K457* probably null Het
Arhgef10 C A 8: 14,991,054 probably null Het
Becn1 C T 11: 101,291,516 G281S probably damaging Het
Borcs8 A G 8: 70,165,168 S59G probably damaging Het
Capn5 C A 7: 98,161,923 R53L probably damaging Het
Cdk5 C T 5: 24,419,595 probably null Het
Cnksr1 A G 4: 134,230,466 L434P probably damaging Het
Col22a1 C T 15: 71,973,637 probably benign Het
Fam208b A G 13: 3,575,885 V1355A possibly damaging Het
Fn1 T C 1: 71,628,140 D811G probably damaging Het
Gm884 T A 11: 103,534,676 R1450S unknown Het
Haus3 G A 5: 34,167,644 Q224* probably null Het
Jakmip2 A G 18: 43,557,324 probably benign Het
Jam3 T G 9: 27,098,723 T296P probably damaging Het
Kcnrg T C 14: 61,611,825 L245P probably damaging Het
Kif1b A G 4: 149,220,602 L909P probably damaging Het
Klrc3 T C 6: 129,641,412 D136G probably damaging Het
Ltf T C 9: 111,031,012 probably benign Het
Mrgprb2 T A 7: 48,551,998 E326D probably benign Het
Nlrp2 T A 7: 5,319,239 D65V possibly damaging Het
Olfr1186 T C 2: 88,525,760 F59S possibly damaging Het
Olfr652 T C 7: 104,564,829 Y203H probably damaging Het
Padi2 G A 4: 140,917,637 V61I probably benign Het
Pkd1l1 T C 11: 8,901,174 S753G possibly damaging Het
Ppp4r3b T C 11: 29,194,591 S314P probably benign Het
Serpina3i T C 12: 104,267,687 S305P probably damaging Het
Slc16a4 G T 3: 107,292,505 V23F possibly damaging Het
Slc25a34 G A 4: 141,621,436 T239I possibly damaging Het
Srebf2 T C 15: 82,192,203 probably benign Het
Tcf12 A T 9: 71,858,656 probably benign Het
Tnpo3 T C 6: 29,586,078 E171G possibly damaging Het
Ubr4 A G 4: 139,479,045 H4864R possibly damaging Het
Vmn2r108 A T 17: 20,462,677 L755* probably null Het
Zfp292 C T 4: 34,807,961 M1699I probably benign Het
Zmynd8 T C 2: 165,805,209 D880G probably damaging Het
Other mutations in Meig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Meig1 APN 2 3409274 missense probably damaging 1.00
IGL02329:Meig1 APN 2 3409251 missense probably damaging 0.97
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 On2013-10-07