Incidental Mutation 'IGL02262:Gm21759'
ID 286783
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 # IGL02262
Quality Score
Status
Chromosome 5
Chromosomal Location 8229636-8231463 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 8230747 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G T 10: 14,317,140 (GRCm39) A560E probably benign Het
Apol7c A T 15: 77,410,013 (GRCm39) M311K probably benign Het
Arap2 A C 5: 62,800,184 (GRCm39) V1281G probably damaging Het
Cacna1s C T 1: 136,035,867 (GRCm39) T1388I probably damaging Het
Dcaf13 T C 15: 38,982,102 (GRCm39) probably benign Het
Dscaml1 G A 9: 45,656,414 (GRCm39) G1585S probably benign Het
Dscaml1 G A 9: 45,643,378 (GRCm39) V1266I probably benign Het
Epc1 A G 18: 6,437,278 (GRCm39) L750P probably damaging Het
Fgd6 T A 10: 93,961,490 (GRCm39) M1108K probably damaging Het
Gm14496 T C 2: 181,637,805 (GRCm39) I293T probably damaging Het
Igkv3-10 A T 6: 70,550,154 (GRCm39) D100V possibly damaging Het
Ipo13 A C 4: 117,761,010 (GRCm39) I569M probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Kif26b A G 1: 178,743,633 (GRCm39) Y1243C probably benign Het
Map3k12 T C 15: 102,410,510 (GRCm39) E489G probably damaging Het
Mtcl2 A T 2: 156,872,826 (GRCm39) V895E probably damaging Het
Nrxn1 A G 17: 91,011,636 (GRCm39) V331A probably damaging Het
Ntrk1 G A 3: 87,689,104 (GRCm39) L529F probably damaging Het
Obscn A T 11: 58,919,359 (GRCm39) C6882S possibly damaging Het
Or14j5 A C 17: 38,162,154 (GRCm39) T224P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Ppp1r13b C A 12: 111,801,645 (GRCm39) L346F possibly damaging Het
Psg22 T C 7: 18,458,496 (GRCm39) S396P probably damaging Het
Rbm19 A G 5: 120,281,470 (GRCm39) E797G probably damaging Het
Ros1 T G 10: 52,055,065 (GRCm39) D79A probably damaging Het
Scn10a C T 9: 119,487,499 (GRCm39) V612I possibly damaging Het
Sema4c A G 1: 36,589,422 (GRCm39) V568A probably damaging Het
Traf5 A G 1: 191,729,636 (GRCm39) F472L probably damaging Het
Trim30b C T 7: 104,015,107 (GRCm39) V94M probably damaging Het
Wasl A T 6: 24,619,186 (GRCm39) S445T unknown Het
Zfp541 A G 7: 15,813,620 (GRCm39) K758E probably damaging 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
IGL01984:Gm21759 APN 5 8,230,547 (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 2015-04-16