Incidental Mutation 'R2872:Igsf9b'
ID 266677
Institutional Source Beutler Lab
Gene Symbol Igsf9b
Ensembl Gene ENSMUSG00000034275
Gene Name immunoglobulin superfamily, member 9B
Synonyms AI414108, LOC235086
MMRRC Submission 040460-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R2872 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 27210500-27268842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27233519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 340 (I340V)
Ref Sequence ENSEMBL: ENSMUSP00000149356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115247] [ENSMUST00000133213] [ENSMUST00000214357]
AlphaFold E9PZ19
Predicted Effect probably benign
Transcript: ENSMUST00000115247
AA Change: I340V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: I340V

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 probably benign
Transcript: ENSMUST00000133213
AA Change: I340V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: I340V

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 probably benign
Transcript: ENSMUST00000214357
AA Change: I340V

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,201,530 (GRCm39) probably benign Het
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Ak8 T C 2: 28,632,732 (GRCm39) I317T possibly damaging Het
Akr1e1 G A 13: 4,652,683 (GRCm39) silent Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Carmil1 G A 13: 24,229,051 (GRCm39) silent Het
Cilk1 A T 9: 78,047,382 (GRCm39) probably null Het
Col12a1 A T 9: 79,606,831 (GRCm39) F531I probably damaging Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Ctnnd1 C T 2: 84,451,232 (GRCm39) V123I possibly damaging Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Gm21759 T A 5: 8,230,863 (GRCm39) probably benign Het
Gm37340 G A 2: 6,955,739 (GRCm39) probably benign Het
Gpr156 T A 16: 37,812,585 (GRCm39) V307D probably damaging Het
Gpr35 G A 1: 92,910,848 (GRCm39) V187I probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Hdac10 G T 15: 89,010,059 (GRCm39) Q300K possibly damaging Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Knop1 T C 7: 118,455,186 (GRCm39) probably null Het
Mapk7 C A 11: 61,381,038 (GRCm39) probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b T C 8: 71,743,610 (GRCm39) Y224H probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Ndufs1 A G 1: 63,203,882 (GRCm39) probably benign Het
Nlrc3 T C 16: 3,775,190 (GRCm39) D774G possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nsun2 A G 13: 69,777,801 (GRCm39) T425A probably damaging Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or1o4 A G 17: 37,590,867 (GRCm39) V148A possibly damaging Het
Or52u1 T C 7: 104,237,700 (GRCm39) S230P possibly damaging Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Paqr5 A T 9: 61,876,061 (GRCm39) probably null Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pkd1l2 C T 8: 117,764,903 (GRCm39) V1332I probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg1 T G 10: 3,913,982 (GRCm39) S1235A probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Plxna3 T A X: 73,383,002 (GRCm39) probably benign Homo
Polg2 A G 11: 106,666,251 (GRCm39) probably null Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Prps1 C T X: 139,372,743 (GRCm39) probably benign Homo
Rapgef6 T A 11: 54,552,001 (GRCm39) F956L probably damaging Het
Rasl12 A G 9: 65,315,605 (GRCm39) N83S probably benign Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Sel1l3 C T 5: 53,295,225 (GRCm39) W792* probably null Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc6a9 T A 4: 117,706,578 (GRCm39) M1K probably null Het
Smpdl3a T A 10: 57,678,626 (GRCm39) F143Y possibly damaging Het
Son A G 16: 91,461,205 (GRCm39) probably null Het
Spsb4 G T 9: 96,878,071 (GRCm39) T84K probably damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tdpoz3 T A 3: 93,733,735 (GRCm39) F137I probably benign Het
Tgm7 G A 2: 120,940,174 (GRCm39) probably benign Het
Tmem161a C T 8: 70,631,565 (GRCm39) probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Ttn A G 2: 76,581,195 (GRCm39) S23233P probably damaging Het
Uevld T C 7: 46,597,693 (GRCm39) D154G probably null Het
Zfp292 G A 4: 34,808,595 (GRCm39) T1483M probably damaging Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
IGL02398:Igsf9b APN 9 27,244,426 (GRCm39) missense possibly damaging 0.54
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
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
Predicted Primers PCR Primer
(F):5'- CTGAGAATCTTAGCTAGGAGGTG -3'
(R):5'- TGCCAGATCGTTGCTCTTTG -3'

Sequencing Primer
(F):5'- ATCTTAGCTAGGAGGTGGAAAGGTTC -3'
(R):5'- CAGATCGTTGCTCTTTGTTTGCCTAG -3'
Posted On 2015-02-18