Incidental Mutation 'IGL02398:Igsf9b'
ID 291774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf9b
Ensembl Gene ENSMUSG00000034275
Gene Name immunoglobulin superfamily, member 9B
Synonyms AI414108, LOC235086
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # IGL02398
Quality Score
Status
Chromosome 9
Chromosomal Location 27210500-27268842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27244426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 794 (S794P)
Ref Sequence ENSEMBL: ENSMUSP00000117017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115247] [ENSMUST00000133213] [ENSMUST00000214357]
AlphaFold E9PZ19
Predicted Effect probably benign
Transcript: ENSMUST00000115247
SMART Domains Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 30 134 9.41e-9 SMART
IGc2 152 215 1.82e-15 SMART
FN3 232 302 7.02e1 SMART
IGc2 241 310 3.01e-7 SMART
IG 331 417 2.79e-2 SMART
IGc2 433 495 5.48e-10 SMART
FN3 510 591 1.35e-7 SMART
FN3 615 695 3.08e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133213
AA Change: S794P

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: S794P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 30 134 9.41e-9 SMART
IGc2 152 215 1.82e-15 SMART
FN3 232 302 7.02e1 SMART
IGc2 241 310 3.01e-7 SMART
IG 331 417 2.79e-2 SMART
IGc2 433 495 5.48e-10 SMART
FN3 510 591 1.35e-7 SMART
FN3 615 695 3.08e-2 SMART
transmembrane domain 727 749 N/A INTRINSIC
low complexity region 750 760 N/A INTRINSIC
low complexity region 835 843 N/A INTRINSIC
low complexity region 971 982 N/A INTRINSIC
low complexity region 990 1001 N/A INTRINSIC
low complexity region 1148 1161 N/A INTRINSIC
low complexity region 1172 1190 N/A INTRINSIC
low complexity region 1246 1273 N/A INTRINSIC
low complexity region 1284 1296 N/A INTRINSIC
low complexity region 1313 1326 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214187
Predicted Effect possibly damaging
Transcript: ENSMUST00000214357
AA Change: S798P

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,709,824 (GRCm39) C160* probably null Het
Alkbh8 C T 9: 3,345,870 (GRCm39) P197S possibly damaging Het
Ankef1 A C 2: 136,397,702 (GRCm39) N761T probably damaging Het
Ankrd7 A G 6: 18,866,696 (GRCm39) Y72C probably damaging Het
Cfap36 T G 11: 29,172,833 (GRCm39) M231L probably benign Het
Cog7 A G 7: 121,563,432 (GRCm39) C227R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspg4 A T 9: 56,793,970 (GRCm39) E568D probably benign Het
Cwc27 G A 13: 104,940,762 (GRCm39) T199I possibly damaging Het
Cyp26a1 A G 19: 37,688,467 (GRCm39) I330V probably benign Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dhrs7 G A 12: 72,711,466 (GRCm39) R24C probably damaging Het
Ehmt2 T A 17: 35,127,455 (GRCm39) C838S probably damaging Het
Fn1 A T 1: 71,657,829 (GRCm39) probably null Het
Gjb3 T A 4: 127,219,855 (GRCm39) S226C probably benign Het
Gm14496 A G 2: 181,637,963 (GRCm39) I346V probably benign Het
Gm8050 T C 14: 17,930,894 (GRCm39) E172G probably damaging Het
Higd1a G A 9: 121,681,590 (GRCm39) R22W probably damaging Het
Hmcn1 A G 1: 150,678,648 (GRCm39) L491S possibly damaging Het
Irgm2 A T 11: 58,110,755 (GRCm39) I161F probably damaging Het
Lrp8 G T 4: 107,704,691 (GRCm39) V304F probably damaging Het
Lrp8 C A 4: 107,726,245 (GRCm39) S850R probably damaging Het
Lrrc9 A T 12: 72,513,677 (GRCm39) M513L probably benign Het
Myo18b A T 5: 112,978,178 (GRCm39) V1248E possibly damaging Het
Myo1b A T 1: 51,797,050 (GRCm39) N945K probably damaging Het
Nipbl A G 15: 8,356,574 (GRCm39) L1604P probably damaging Het
Oas1f A T 5: 120,989,568 (GRCm39) Y169F probably benign Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or2a56 A T 6: 42,933,046 (GRCm39) I205F probably benign Het
Or52r1c G A 7: 102,735,313 (GRCm39) C191Y probably damaging Het
Or8k22 A T 2: 86,162,868 (GRCm39) Y277* probably null Het
Parp8 A G 13: 117,047,399 (GRCm39) probably null Het
Pde4dip T C 3: 97,674,097 (GRCm39) Y273C probably benign Het
Pgbd5 C T 8: 125,111,257 (GRCm39) A54T probably damaging Het
Pglyrp4 G A 3: 90,646,424 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,302 (GRCm39) S1819R probably benign Het
Polr1a T C 6: 71,913,540 (GRCm39) probably benign Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prlhr G T 19: 60,455,753 (GRCm39) A271E probably damaging Het
Rad23b C T 4: 55,350,360 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,905,114 (GRCm39) S132R probably damaging Het
Ros1 T A 10: 52,020,980 (GRCm39) probably benign Het
Ryr3 T C 2: 112,677,767 (GRCm39) D1327G probably benign Het
Slit1 A C 19: 41,590,676 (GRCm39) V1332G probably damaging Het
Spin2h A G X: 32,162,153 (GRCm39) D224G probably damaging Het
Tmem178b A G 6: 40,184,461 (GRCm39) M120V probably damaging Het
Trim25 T C 11: 88,890,630 (GRCm39) C106R probably damaging Het
Trim35 A G 14: 66,546,697 (GRCm39) Y488C probably damaging Het
Tsc2 A T 17: 24,840,703 (GRCm39) H326Q probably damaging Het
Yap1 A T 9: 7,950,536 (GRCm39) I315K probably benign Het
Zfp654 A G 16: 64,606,381 (GRCm39) V607A probably benign Het
Other mutations in Igsf9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Igsf9b APN 9 27,230,951 (GRCm39) missense probably damaging 1.00
IGL01013:Igsf9b APN 9 27,245,600 (GRCm39) missense probably damaging 1.00
IGL01960:Igsf9b APN 9 27,239,902 (GRCm39) missense possibly damaging 0.93
IGL03007:Igsf9b APN 9 27,244,378 (GRCm39) missense probably damaging 0.98
G1Funyon:Igsf9b UTSW 9 27,246,035 (GRCm39) utr 3 prime probably benign
IGL03014:Igsf9b UTSW 9 27,233,932 (GRCm39) missense probably benign 0.00
R0127:Igsf9b UTSW 9 27,245,681 (GRCm39) missense possibly damaging 0.65
R0376:Igsf9b UTSW 9 27,245,878 (GRCm39) missense probably benign 0.01
R0520:Igsf9b UTSW 9 27,234,546 (GRCm39) missense probably benign 0.00
R0534:Igsf9b UTSW 9 27,244,358 (GRCm39) splice site probably null
R0613:Igsf9b UTSW 9 27,238,216 (GRCm39) missense probably damaging 1.00
R0718:Igsf9b UTSW 9 27,234,657 (GRCm39) critical splice donor site probably null
R0828:Igsf9b UTSW 9 27,230,901 (GRCm39) nonsense probably null
R0879:Igsf9b UTSW 9 27,245,038 (GRCm39) missense probably damaging 1.00
R0882:Igsf9b UTSW 9 27,230,612 (GRCm39) missense probably damaging 0.98
R0987:Igsf9b UTSW 9 27,243,849 (GRCm39) splice site probably null
R1162:Igsf9b UTSW 9 27,238,185 (GRCm39) missense probably benign
R1758:Igsf9b UTSW 9 27,245,548 (GRCm39) missense possibly damaging 0.50
R1760:Igsf9b UTSW 9 27,229,123 (GRCm39) missense possibly damaging 0.82
R1819:Igsf9b UTSW 9 27,222,889 (GRCm39) missense probably damaging 0.98
R1823:Igsf9b UTSW 9 27,243,028 (GRCm39) missense probably damaging 0.96
R1982:Igsf9b UTSW 9 27,233,535 (GRCm39) missense possibly damaging 0.82
R2150:Igsf9b UTSW 9 27,245,633 (GRCm39) missense probably damaging 1.00
R2228:Igsf9b UTSW 9 27,244,792 (GRCm39) missense probably damaging 1.00
R2229:Igsf9b UTSW 9 27,244,792 (GRCm39) missense probably damaging 1.00
R2250:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R2872:Igsf9b UTSW 9 27,233,519 (GRCm39) missense probably benign 0.11
R2872:Igsf9b UTSW 9 27,233,519 (GRCm39) missense probably benign 0.11
R3415:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R3416:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R3417:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R3427:Igsf9b UTSW 9 27,245,873 (GRCm39) missense probably damaging 0.99
R4356:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R4357:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R4358:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R4359:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R4379:Igsf9b UTSW 9 27,220,774 (GRCm39) missense possibly damaging 0.95
R4416:Igsf9b UTSW 9 27,234,213 (GRCm39) missense probably damaging 1.00
R4445:Igsf9b UTSW 9 27,245,548 (GRCm39) missense probably benign 0.13
R4446:Igsf9b UTSW 9 27,245,548 (GRCm39) missense probably benign 0.13
R4787:Igsf9b UTSW 9 27,228,752 (GRCm39) missense probably benign 0.26
R4887:Igsf9b UTSW 9 27,233,946 (GRCm39) missense probably benign 0.45
R5085:Igsf9b UTSW 9 27,228,733 (GRCm39) missense probably benign 0.03
R5360:Igsf9b UTSW 9 27,222,968 (GRCm39) missense probably damaging 0.98
R5417:Igsf9b UTSW 9 27,245,572 (GRCm39) small insertion probably benign
R5686:Igsf9b UTSW 9 27,235,475 (GRCm39) missense probably damaging 0.99
R5738:Igsf9b UTSW 9 27,239,826 (GRCm39) missense probably damaging 0.98
R5869:Igsf9b UTSW 9 27,234,531 (GRCm39) missense probably benign 0.44
R6304:Igsf9b UTSW 9 27,253,871 (GRCm39) missense probably benign 0.19
R6359:Igsf9b UTSW 9 27,220,895 (GRCm39) missense probably benign 0.25
R6367:Igsf9b UTSW 9 27,220,821 (GRCm39) nonsense probably null
R6556:Igsf9b UTSW 9 27,240,851 (GRCm39) missense probably damaging 1.00
R7058:Igsf9b UTSW 9 27,234,150 (GRCm39) missense probably damaging 0.99
R7165:Igsf9b UTSW 9 27,245,536 (GRCm39) missense probably benign
R7180:Igsf9b UTSW 9 27,233,964 (GRCm39) missense possibly damaging 0.95
R7212:Igsf9b UTSW 9 27,242,992 (GRCm39) missense probably damaging 0.98
R7461:Igsf9b UTSW 9 27,245,418 (GRCm39) missense probably benign 0.10
R7605:Igsf9b UTSW 9 27,234,608 (GRCm39) missense probably damaging 0.98
R7609:Igsf9b UTSW 9 27,257,186 (GRCm39) missense probably benign
R7613:Igsf9b UTSW 9 27,245,418 (GRCm39) missense probably benign 0.10
R8072:Igsf9b UTSW 9 27,228,660 (GRCm39) missense possibly damaging 0.94
R8163:Igsf9b UTSW 9 27,233,907 (GRCm39) splice site probably null
R8301:Igsf9b UTSW 9 27,246,035 (GRCm39) utr 3 prime probably benign
R8546:Igsf9b UTSW 9 27,244,426 (GRCm39) missense possibly damaging 0.54
R8553:Igsf9b UTSW 9 27,244,739 (GRCm39) missense probably damaging 0.96
R9438:Igsf9b UTSW 9 27,243,839 (GRCm39) missense probably benign 0.03
R9585:Igsf9b UTSW 9 27,233,532 (GRCm39) missense probably damaging 1.00
R9720:Igsf9b UTSW 9 27,220,810 (GRCm39) missense probably damaging 0.99
X0013:Igsf9b UTSW 9 27,243,021 (GRCm39) missense possibly damaging 0.89
X0025:Igsf9b UTSW 9 27,220,757 (GRCm39) missense probably damaging 1.00
X0028:Igsf9b UTSW 9 27,245,668 (GRCm39) missense probably damaging 1.00
Z1176:Igsf9b UTSW 9 27,228,649 (GRCm39) critical splice acceptor site probably null
Z1177:Igsf9b UTSW 9 27,245,588 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16