Incidental Mutation 'IGL02584:Gm21698'
ID 299463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21698
Ensembl Gene ENSMUSG00000096045
Gene Name predicted gene, 21698
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02584
Quality Score
Status
Chromosome 5
Chromosomal Location 26187028-26193648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26192391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 65 (E65V)
Ref Sequence ENSEMBL: ENSMUSP00000140294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178487] [ENSMUST00000191203]
AlphaFold A0A087WQP8
Predicted Effect probably damaging
Transcript: ENSMUST00000178487
AA Change: E19V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137405
Gene: ENSMUSG00000096045
AA Change: E19V

DomainStartEndE-ValueType
Pfam:Takusan 3 89 5.1e-18 PFAM
coiled coil region 150 177 N/A INTRINSIC
low complexity region 201 215 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191203
AA Change: E65V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140294
Gene: ENSMUSG00000096045
AA Change: E65V

DomainStartEndE-ValueType
Pfam:Takusan 49 135 4.8e-19 PFAM
coiled coil region 196 223 N/A INTRINSIC
low complexity region 247 261 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Cryga T A 1: 65,142,175 (GRCm39) S73C probably benign Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Ighv1-22 T C 12: 114,709,942 (GRCm39) E101G probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Or5m11b C T 2: 85,806,219 (GRCm39) L211F probably damaging Het
Pdlim1 A G 19: 40,231,844 (GRCm39) probably null Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Vax2 A G 6: 83,688,495 (GRCm39) T73A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Gm21698
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4581001:Gm21698 UTSW 5 26,192,350 (GRCm39) missense probably benign 0.08
R6172:Gm21698 UTSW 5 26,192,371 (GRCm39) missense probably benign 0.25
R7110:Gm21698 UTSW 5 26,190,175 (GRCm39) missense probably damaging 1.00
R7904:Gm21698 UTSW 5 26,189,256 (GRCm39) missense probably benign 0.16
R9084:Gm21698 UTSW 5 26,190,244 (GRCm39) missense probably damaging 1.00
R9798:Gm21698 UTSW 5 26,189,184 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16