Incidental Mutation 'IGL01921:Gm21976'
ID180110
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: 0.074) question?
Stock #IGL01921
Quality Score
Status
Chromosome13
Chromosomal Location98279887-98307154 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 98305321 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 45 (Y45*)
Ref Sequence ENSEMBL: ENSMUSP00000139945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022163] [ENSMUST00000134542] [ENSMUST00000152704] [ENSMUST00000180066] [ENSMUST00000180188] [ENSMUST00000186911]
Predicted Effect probably benign
Transcript: ENSMUST00000022163
SMART Domains Protein: ENSMUSP00000022163
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:NAC 83 139 6.2e-30 PFAM
low complexity region 182 193 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133461
Predicted Effect probably benign
Transcript: ENSMUST00000134542
SMART Domains Protein: ENSMUSP00000115500
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152704
SMART Domains Protein: ENSMUSP00000118093
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000180066
AA Change: Y119*
Predicted Effect probably benign
Transcript: ENSMUST00000180188
Predicted Effect probably null
Transcript: ENSMUST00000186911
AA Change: Y45*
SMART Domains Protein: ENSMUSP00000139945
Gene: ENSMUSG00000096330
AA Change: Y45*

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Gm21976
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Gm21976 APN 13 98302561 missense probably benign 0.15
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 On2014-05-07