Incidental Mutation 'IGL01984:Gm21759'
ID 181838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21759
Ensembl Gene ENSMUSG00000094226
Gene Name predicted gene, 21759
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01984
Quality Score
Status
Chromosome 5
Chromosomal Location 8229636-8231463 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 8230547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115385] [ENSMUST00000115386] [ENSMUST00000115388]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046838
SMART Domains Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 7e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 9.3e-9 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050166
SMART Domains Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 7.6e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.1e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.4e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 824 839 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088744
SMART Domains Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 41 186 4.2e-29 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.2e-8 PFAM
Pfam:Reprolysin 237 436 2.9e-65 PFAM
Pfam:Reprolysin_3 261 378 9.2e-13 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 736 758 N/A INTRINSIC
low complexity region 785 800 N/A INTRINSIC
low complexity region 883 898 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088761
SMART Domains Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 8.1e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.2e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.6e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
low complexity region 860 875 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115385
SMART Domains Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 186 5.2e-28 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin 237 333 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115386
SMART Domains Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 3.4e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 5.1e-9 PFAM
Pfam:Reprolysin 237 436 5e-59 PFAM
Pfam:Reprolysin_3 261 379 1.6e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 850 870 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178345
SMART Domains Protein: ENSMUSP00000136133
Gene: ENSMUSG00000094226

DomainStartEndE-ValueType
S_TKc 24 271 1.67e-93 SMART
low complexity region 325 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115388
SMART Domains Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 8e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.1e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.5e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 852 872 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,970,537 (GRCm39) L24F probably benign Het
Adamts16 T C 13: 70,935,266 (GRCm39) D442G probably damaging Het
Ankmy1 T C 1: 92,811,487 (GRCm39) T634A probably damaging Het
Anxa3 A T 5: 96,982,630 (GRCm39) probably benign Het
Ccnh T C 13: 85,354,270 (GRCm39) L202P probably damaging Het
Clcn3 A T 8: 61,382,614 (GRCm39) S325T probably damaging Het
Clec2d A T 6: 129,161,192 (GRCm39) E96D possibly damaging Het
Csn1s1 A T 5: 87,824,369 (GRCm39) probably benign Het
Dcun1d5 T A 9: 7,205,307 (GRCm39) Y189N possibly damaging Het
Dnah7a T C 1: 53,741,174 (GRCm39) probably null Het
Dpcd C T 19: 45,565,469 (GRCm39) H148Y probably benign Het
Efcab3 T A 11: 104,629,134 (GRCm39) D937E probably benign Het
Erg T G 16: 95,210,786 (GRCm39) D15A probably damaging Het
Heatr5b C T 17: 79,103,926 (GRCm39) R1083Q possibly damaging Het
Ints3 A G 3: 90,299,533 (GRCm39) S1012P possibly damaging Het
Klhl3 C T 13: 58,159,057 (GRCm39) probably benign Het
Lama4 T A 10: 38,951,525 (GRCm39) probably null Het
Magi1 A T 6: 93,685,155 (GRCm39) V740D probably damaging Het
Nme8 C A 13: 19,873,150 (GRCm39) V165L probably damaging Het
Odf2l G T 3: 144,845,590 (GRCm39) E5* probably null Het
Or14j4 T C 17: 37,934,552 (GRCm39) probably benign Het
Or4k47 A G 2: 111,451,927 (GRCm39) L164S probably benign Het
Or56a5 A T 7: 104,792,923 (GRCm39) D192E probably benign Het
Pcnx4 T C 12: 72,621,183 (GRCm39) V1001A probably benign Het
Plaa A G 4: 94,459,922 (GRCm39) probably null Het
Prkdc G A 16: 15,526,643 (GRCm39) A1305T probably benign Het
Rnps1 T C 17: 24,643,371 (GRCm39) probably benign Het
St8sia5 T C 18: 77,336,157 (GRCm39) F197L probably benign Het
Sult3a1 G T 10: 33,755,205 (GRCm39) G257* probably null Het
Svep1 A C 4: 58,068,877 (GRCm39) Y2970D possibly damaging Het
Tns3 G T 11: 8,498,992 (GRCm39) Y30* probably null Het
Ubr1 G T 2: 120,751,867 (GRCm39) P791T probably damaging Het
Zfp592 T C 7: 80,688,392 (GRCm39) V1039A probably benign Het
Other mutations in Gm21759
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Gm21759 APN 5 8,229,731 (GRCm39) intron probably benign
IGL01621:Gm21759 APN 5 8,229,775 (GRCm39) intron probably benign
IGL01939:Gm21759 APN 5 8,230,685 (GRCm39) intron probably benign
IGL02262:Gm21759 APN 5 8,230,747 (GRCm39) intron probably benign
IGL02525:Gm21759 APN 5 8,229,967 (GRCm39) intron probably benign
R2870:Gm21759 UTSW 5 8,230,863 (GRCm39) intron probably benign
R2871:Gm21759 UTSW 5 8,230,863 (GRCm39) intron probably benign
R2872:Gm21759 UTSW 5 8,230,863 (GRCm39) intron probably benign
Posted On 2014-05-07