Incidental Mutation 'IGL01678:Gm960'
ID103714
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: 0.077) question?
Stock #IGL01678
Quality Score
Status
Chromosome19
Chromosomal Location4625734-4698668 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4672165 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 76 (I76L)
Ref Sequence ENSEMBL: ENSMUSP00000153439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]
Predicted Effect probably benign
Transcript: ENSMUST00000096325
AA Change: I76L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: I76L

DomainStartEndE-ValueType
Pfam:DUF4554 120 162 1.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177696
AA Change: I230L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: I230L

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 possibly damaging
Transcript: ENSMUST00000225896
AA Change: I76L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
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
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Angel1 T C 12: 86,717,026 E500G probably benign Het
Car9 T C 4: 43,512,941 probably benign Het
Colec11 A G 12: 28,594,868 F209S probably damaging Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Ftmt A T 18: 52,332,134 H174L probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Nit1 A G 1: 171,342,694 V270A probably damaging Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Zmat4 T A 8: 23,902,048 C7S probably damaging Het
Other mutations in Gm960
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Gm960 APN 19 4659482 missense possibly damaging 0.93
IGL02160:Gm960 APN 19 4663584 missense probably damaging 1.00
IGL02308:Gm960 APN 19 4663555 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
R7949:Gm960 UTSW 19 4698486 missense unknown
R7957:Gm960 UTSW 19 4658423 missense probably damaging 1.00
Z1176:Gm960 UTSW 19 4625903 missense unknown
Posted On2014-01-21