Incidental Mutation 'IGL00093:Gm21976'
ID306530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21976
Ensembl Gene ENSMUSG00000096330
Gene Namepredicted gene 21976
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL00093
Quality Score
Status
Chromosome13
Chromosomal Location98279887-98307154 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 98302561 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 20 (V20M)
Ref Sequence ENSEMBL: ENSMUSP00000139945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180066] [ENSMUST00000180188] [ENSMUST00000186911]
Predicted Effect probably benign
Transcript: ENSMUST00000180066
AA Change: V94M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000180188
Predicted Effect probably benign
Transcript: ENSMUST00000186911
AA Change: V20M

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139945
Gene: ENSMUSG00000096330
AA Change: V20M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LDLa 52 91 1.4e-9 SMART
LDLa 98 136 3.4e-4 SMART
LDLa 141 175 9.2e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,653,560 D60G probably damaging Het
9230110C19Rik A G 9: 8,022,432 V263A probably benign Het
Abca2 T A 2: 25,445,963 probably null Het
Adamts14 C T 10: 61,229,676 R348H probably damaging Het
Aimp2 A T 5: 143,906,706 I22N probably damaging Het
Cacna1c A G 6: 118,676,444 probably benign Het
Cfap221 A T 1: 119,932,845 Y684N possibly damaging Het
Cldn6 T A 17: 23,681,724 probably benign Het
Copb2 A G 9: 98,568,077 M30V probably benign Het
Cyhr1 A G 15: 76,646,538 I194T probably damaging Het
Dcaf17 G A 2: 71,078,159 E243K probably benign Het
Dhx35 T C 2: 158,827,916 Y257H probably damaging Het
Dzank1 A T 2: 144,481,725 Y600* probably null Het
Fam208a T G 14: 27,448,206 L364R probably damaging Het
Flvcr1 T A 1: 191,015,489 R201* probably null Het
Fstl4 G A 11: 53,186,275 V620I probably benign Het
Ifi208 T C 1: 173,679,038 probably null Het
Kdm4c T C 4: 74,345,501 V674A probably benign Het
Lig1 T A 7: 13,301,452 Y612* probably null Het
Marco A G 1: 120,485,703 V295A probably benign Het
Myo5c T C 9: 75,242,880 probably benign Het
Olfr394 A G 11: 73,888,249 L41P probably damaging Het
Olfr643 T C 7: 104,059,416 Y62C probably damaging Het
Olfr815 T A 10: 129,902,659 D17V possibly damaging Het
Pkd1l1 A G 11: 8,961,971 M245T unknown Het
Pomt1 A G 2: 32,241,772 I158V probably benign Het
Ptpn21 A G 12: 98,680,468 W967R probably damaging Het
Rrp12 A T 19: 41,887,094 M270K possibly damaging Het
Spats2 A G 15: 99,180,593 E179G possibly damaging Het
Tapbp T C 17: 33,919,892 V11A probably benign Het
Tonsl A G 15: 76,638,496 F185S possibly damaging Het
Trpm1 A G 7: 64,243,450 I901V probably damaging Het
Tulp2 A G 7: 45,521,908 N371S probably damaging Het
Unc5d A T 8: 28,719,826 V433D probably damaging Het
Wasf3 G A 5: 146,455,651 R177Q probably damaging Het
Wdr63 C T 3: 146,083,004 G274E probably benign Het
Zfp715 A T 7: 43,299,749 H262Q possibly damaging Het
Other mutations in Gm21976
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Gm21976 APN 13 98305321 nonsense probably null
IGL02971:Gm21976 APN 13 98302549 missense probably null 0.35
PIT4468001:Gm21976 UTSW 13 98307027 nonsense probably null
R2969:Gm21976 UTSW 13 98287282 missense unknown
R4510:Gm21976 UTSW 13 98305331 missense probably benign 0.25
R4511:Gm21976 UTSW 13 98305331 missense probably benign 0.25
R4595:Gm21976 UTSW 13 98305810 missense probably damaging 0.98
R6126:Gm21976 UTSW 13 98287313 missense unknown
Posted On2015-04-16