Incidental Mutation 'IGL01472:Ism1'
ID 88323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ism1
Ensembl Gene ENSMUSG00000074766
Gene Name isthmin 1, angiogenesis inhibitor
Synonyms 5430433G21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.660) question?
Stock # IGL01472
Quality Score
Status
Chromosome 2
Chromosomal Location 139520098-139600501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139599223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 392 (T392S)
Ref Sequence ENSEMBL: ENSMUSP00000096910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099307] [ENSMUST00000184404]
AlphaFold A2ATD1
Predicted Effect probably damaging
Transcript: ENSMUST00000099307
AA Change: T392S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: T392S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 165 177 N/A INTRINSIC
TSP1 210 252 3.69e-8 SMART
AMOP 279 442 5.38e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184404
AA Change: T399S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: T399S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 172 184 N/A INTRINSIC
TSP1 217 259 3.69e-8 SMART
AMOP 286 449 5.38e-91 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,153,759 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,419 (GRCm39) F324S probably damaging Het
Alg10b T A 15: 90,111,900 (GRCm39) L248Q possibly damaging Het
Antxr2 T A 5: 98,175,358 (GRCm39) T90S probably benign Het
Arhgap21 C T 2: 20,854,392 (GRCm39) E1657K probably damaging Het
Atp13a5 T G 16: 29,094,175 (GRCm39) D803A probably damaging Het
Bzw2 T C 12: 36,159,795 (GRCm39) D185G probably damaging Het
Camta2 A G 11: 70,574,950 (GRCm39) S62P probably damaging Het
Cep85 T C 4: 133,861,477 (GRCm39) Q599R possibly damaging Het
Chsy3 G A 18: 59,309,439 (GRCm39) V231I probably damaging Het
Cnbd2 C T 2: 156,217,268 (GRCm39) R457W probably damaging Het
Col20a1 A G 2: 180,649,625 (GRCm39) T1036A probably benign Het
Colgalt2 T C 1: 152,382,629 (GRCm39) Y494H probably damaging Het
Cox15 G T 19: 43,732,104 (GRCm39) Y237* probably null Het
Cpne9 C A 6: 113,269,983 (GRCm39) S281Y possibly damaging Het
D830013O20Rik G A 12: 73,411,090 (GRCm39) noncoding transcript Het
Dnah5 C T 15: 28,331,872 (GRCm39) R2153C probably damaging Het
Fam228a A G 12: 4,765,610 (GRCm39) I267T possibly damaging Het
Fat4 G A 3: 38,942,219 (GRCm39) A371T probably damaging Het
Gm1818 T C 12: 48,603,072 (GRCm39) noncoding transcript Het
Gm5592 T C 7: 40,935,498 (GRCm39) probably benign Het
Golga4 C A 9: 118,361,642 (GRCm39) L207I probably damaging Het
Gtf3c1 A G 7: 125,250,226 (GRCm39) probably benign Het
Hao1 C T 2: 134,396,150 (GRCm39) E35K probably benign Het
Iqch T C 9: 63,455,216 (GRCm39) I194V probably benign Het
Lcmt1 A G 7: 123,027,376 (GRCm39) Y313C probably damaging Het
Loxl4 A G 19: 42,585,988 (GRCm39) C718R probably damaging Het
Lyar T G 5: 38,382,066 (GRCm39) I16R possibly damaging Het
Map3k20 T C 2: 72,185,897 (GRCm39) probably benign Het
Mtus1 T C 8: 41,455,449 (GRCm39) T941A probably benign Het
Myh8 A G 11: 67,179,205 (GRCm39) probably benign Het
Myof T C 19: 37,911,524 (GRCm39) D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 (GRCm39) A534D probably damaging Het
Oas1c A G 5: 120,940,986 (GRCm39) V269A probably damaging Het
Odf2 T A 2: 29,783,071 (GRCm39) S5T probably damaging Het
Or5d36 T A 2: 87,901,322 (GRCm39) T135S possibly damaging Het
Or5p4 T C 7: 107,680,411 (GRCm39) S137P probably benign Het
Or9s27 T A 1: 92,516,694 (GRCm39) M214K possibly damaging Het
Pbk A G 14: 66,054,159 (GRCm39) T235A probably benign Het
Phrf1 T C 7: 140,836,403 (GRCm39) probably benign Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Prom2 T A 2: 127,374,802 (GRCm39) Y578F probably benign Het
Prph T C 15: 98,956,474 (GRCm39) probably benign Het
Ryr3 A G 2: 112,502,593 (GRCm39) V3527A probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Slc10a2 A G 8: 5,141,652 (GRCm39) L244P probably damaging Het
Tardbp A G 4: 148,706,521 (GRCm39) V96A probably benign Het
Tbc1d4 C A 14: 101,727,300 (GRCm39) E504* probably null Het
Tmed3 T C 9: 89,584,928 (GRCm39) E109G probably benign Het
Tnc C T 4: 63,924,656 (GRCm39) R1014H probably benign Het
Tpcn2 C T 7: 144,821,115 (GRCm39) R313Q probably damaging Het
Trim45 A G 3: 100,835,381 (GRCm39) T455A probably benign Het
Txlna A G 4: 129,525,908 (GRCm39) I313T probably damaging Het
Vmn1r202 A T 13: 22,686,159 (GRCm39) I86K possibly damaging Het
Vmn2r14 C A 5: 109,364,180 (GRCm39) E579* probably null Het
Wrn T A 8: 33,819,200 (GRCm39) I8F possibly damaging Het
Zc3h18 A G 8: 123,143,396 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,323,117 (GRCm39) H876Q probably benign Het
Znrf2 C T 6: 54,840,957 (GRCm39) T177I probably damaging Het
Other mutations in Ism1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Ism1 APN 2 139,599,121 (GRCm39) missense probably damaging 1.00
IGL03349:Ism1 APN 2 139,573,895 (GRCm39) nonsense probably null
R0212:Ism1 UTSW 2 139,582,177 (GRCm39) missense probably benign 0.00
R0312:Ism1 UTSW 2 139,520,592 (GRCm39) start codon destroyed probably null 0.88
R1355:Ism1 UTSW 2 139,573,994 (GRCm39) missense possibly damaging 0.93
R1370:Ism1 UTSW 2 139,573,994 (GRCm39) missense possibly damaging 0.93
R1775:Ism1 UTSW 2 139,587,963 (GRCm39) missense probably damaging 1.00
R1992:Ism1 UTSW 2 139,587,937 (GRCm39) missense probably benign 0.01
R2021:Ism1 UTSW 2 139,582,047 (GRCm39) splice site probably null
R2035:Ism1 UTSW 2 139,599,075 (GRCm39) missense probably damaging 1.00
R2270:Ism1 UTSW 2 139,599,293 (GRCm39) missense probably damaging 1.00
R2271:Ism1 UTSW 2 139,599,293 (GRCm39) missense probably damaging 1.00
R3722:Ism1 UTSW 2 139,573,931 (GRCm39) nonsense probably null
R3792:Ism1 UTSW 2 139,582,173 (GRCm39) missense probably damaging 0.99
R4907:Ism1 UTSW 2 139,520,672 (GRCm39) missense probably benign 0.27
R5621:Ism1 UTSW 2 139,520,641 (GRCm39) missense probably damaging 0.99
R5964:Ism1 UTSW 2 139,520,677 (GRCm39) missense probably benign
R6255:Ism1 UTSW 2 139,587,962 (GRCm39) small deletion probably benign
R7009:Ism1 UTSW 2 139,599,199 (GRCm39) missense probably damaging 1.00
R7325:Ism1 UTSW 2 139,598,963 (GRCm39) missense probably damaging 1.00
R7851:Ism1 UTSW 2 139,599,185 (GRCm39) missense probably damaging 1.00
R8851:Ism1 UTSW 2 139,591,465 (GRCm39) missense probably damaging 1.00
R8958:Ism1 UTSW 2 139,573,995 (GRCm39) missense possibly damaging 0.93
R9365:Ism1 UTSW 2 139,582,321 (GRCm39) missense probably damaging 1.00
Z1176:Ism1 UTSW 2 139,573,794 (GRCm39) missense probably benign 0.01
Posted On 2013-11-18