Incidental Mutation 'IGL02308:Gm960'
ID287702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm960
Ensembl Gene ENSMUSG00000071691
Gene Namepredicted gene 960
SynonymsLOC381196
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02308
Quality Score
Status
Chromosome19
Chromosomal Location4625734-4698668 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4663555 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 132 (K132E)
Ref Sequence ENSEMBL: ENSMUSP00000153439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096325
AA Change: K132E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: K132E

DomainStartEndE-ValueType
Pfam:DUF4554 120 162 1.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177696
AA Change: K286E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: K286E

DomainStartEndE-ValueType
low complexity region 65 79 N/A INTRINSIC
low complexity region 106 122 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF4554 274 719 5.3e-206 PFAM
low complexity region 720 731 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000225896
AA Change: K132E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 S8F probably damaging Het
Alpk1 T A 3: 127,729,282 Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 T1343A probably benign Het
Cmbl C A 15: 31,585,408 P146Q possibly damaging Het
Cog2 A T 8: 124,533,212 probably null Het
Dgkh C A 14: 78,587,576 V880L probably benign Het
Dopey1 T C 9: 86,520,088 S1114P probably damaging Het
Eif5b T A 1: 38,041,747 V723D probably damaging Het
Gdf11 A G 10: 128,885,384 Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 noncoding transcript Het
Gria1 G A 11: 57,236,924 V320I probably benign Het
H2-Q10 T A 17: 35,473,566 *326R probably null Het
Irx6 T A 8: 92,677,031 L128Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lama5 A G 2: 180,190,327 probably benign Het
Mios A G 6: 8,231,269 I718V probably benign Het
Mroh8 A G 2: 157,254,973 V318A probably damaging Het
Nags A G 11: 102,149,071 *528W probably null Het
Nom1 T A 5: 29,437,710 V403D probably damaging Het
Npffr2 C A 5: 89,583,451 N413K probably benign Het
Olfr394 A T 11: 73,888,295 Y26N probably benign Het
Olfr671 T A 7: 104,975,458 I176F possibly damaging Het
Olr1 C T 6: 129,499,897 R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 probably null Het
Ptpro A G 6: 137,454,700 M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 R641L probably damaging Het
Th T C 7: 142,898,057 E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttn G A 2: 76,894,361 R2107* probably null Het
Ubr2 A T 17: 46,934,193 C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 M558V possibly damaging Het
Zzef1 G A 11: 72,886,747 M1801I probably benign Het
Other mutations in Gm960
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Gm960 APN 19 4659482 missense possibly damaging 0.93
IGL01678:Gm960 APN 19 4672165 missense possibly damaging 0.94
IGL02160:Gm960 APN 19 4663584 missense probably damaging 1.00
IGL03375:Gm960 APN 19 4698178 missense probably benign 0.26
R0485:Gm960 UTSW 19 4658414 missense probably damaging 1.00
R0671:Gm960 UTSW 19 4626188 missense probably damaging 0.97
R1583:Gm960 UTSW 19 4652171 missense probably damaging 1.00
R2049:Gm960 UTSW 19 4698605 utr 5 prime probably benign
R3956:Gm960 UTSW 19 4692497 missense probably benign 0.13
R4554:Gm960 UTSW 19 4649819 missense possibly damaging 0.95
R4635:Gm960 UTSW 19 4698496 utr 5 prime probably benign
R4717:Gm960 UTSW 19 4625873 unclassified probably benign
R4996:Gm960 UTSW 19 4626084 missense probably benign 0.09
R5133:Gm960 UTSW 19 4658421 missense probably damaging 1.00
R5752:Gm960 UTSW 19 4626020 missense probably benign 0.28
R6277:Gm960 UTSW 19 4627222 nonsense probably null
R6348:Gm960 UTSW 19 4672078 missense probably damaging 0.96
R7386:Gm960 UTSW 19 4663558 nonsense probably null
R7673:Gm960 UTSW 19 4645633 missense probably damaging 1.00
R7866:Gm960 UTSW 19 4698486 missense unknown
R7874:Gm960 UTSW 19 4658423 missense probably damaging 1.00
Z1176:Gm960 UTSW 19 4625903 missense unknown
Posted On2015-04-16