Incidental Mutation 'R5360:Igsf9b'
ID 424290
Institutional Source Beutler Lab
Gene Symbol Igsf9b
Ensembl Gene ENSMUSG00000034275
Gene Name immunoglobulin superfamily, member 9B
Synonyms AI414108, LOC235086
MMRRC Submission 042939-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R5360 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 27210500-27268842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27222968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 123 (D123G)
Ref Sequence ENSEMBL: ENSMUSP00000149356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115247] [ENSMUST00000133213] [ENSMUST00000214357]
AlphaFold E9PZ19
Predicted Effect possibly damaging
Transcript: ENSMUST00000115247
AA Change: D123G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: D123G

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: D123G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: D123G

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 probably damaging
Transcript: ENSMUST00000214357
AA Change: D123G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,279,592 (GRCm39) Y443* probably null Het
Aox3 C T 1: 58,185,667 (GRCm39) T331M probably damaging Het
Arhgap32 G A 9: 32,170,967 (GRCm39) R1598H probably damaging Het
Atp1a2 A G 1: 172,106,436 (GRCm39) probably null Het
Brpf3 A T 17: 29,029,536 (GRCm39) M499L probably benign Het
Cacnb1 A T 11: 97,909,097 (GRCm39) probably null Het
Cep295 A G 9: 15,238,029 (GRCm39) S1899P probably damaging Het
Cntn2 A G 1: 132,446,595 (GRCm39) Y748H probably damaging Het
Csmd3 T A 15: 47,532,599 (GRCm39) Y2532F probably damaging Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dsg1a A G 18: 20,474,011 (GRCm39) D1028G probably damaging Het
Eif1ad16 A C 12: 87,985,265 (GRCm39) L93V probably benign Het
Elp1 A T 4: 56,800,104 (GRCm39) H7Q probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabra5 C T 7: 57,140,533 (GRCm39) G55R probably damaging Het
Gdf9 T A 11: 53,328,034 (GRCm39) F330Y probably benign Het
Gimap8 T C 6: 48,633,236 (GRCm39) S352P probably damaging Het
Gm4952 A T 19: 12,600,993 (GRCm39) H71L probably benign Het
Gnaq G A 19: 16,110,790 (GRCm39) R34H probably benign Het
Hebp2 T C 10: 18,420,055 (GRCm39) D126G probably benign Het
Hectd4 A G 5: 121,453,464 (GRCm39) D601G possibly damaging Het
Hook2 T C 8: 85,728,033 (GRCm39) Y577H probably damaging Het
Igfals A G 17: 25,099,067 (GRCm39) T53A probably benign Het
Ilrun A T 17: 28,013,020 (GRCm39) I59N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mdm4 A T 1: 132,919,396 (GRCm39) *490K probably null Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Neurl2 C A 2: 164,675,021 (GRCm39) A114S probably damaging Het
Nuggc A G 14: 65,876,075 (GRCm39) T563A probably damaging Het
Or8g32 T G 9: 39,305,698 (GRCm39) F204V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pdlim1 A T 19: 40,218,993 (GRCm39) S213T probably damaging Het
Pitx1 T C 13: 55,976,291 (GRCm39) I123V probably damaging Het
Pkd1l1 T C 11: 8,829,204 (GRCm39) N1013D probably benign Het
Pla2g2c T A 4: 138,461,656 (GRCm39) Y42N possibly damaging Het
Polr2b G A 5: 77,496,993 (GRCm39) A1168T possibly damaging Het
Ppp2r2a G A 14: 67,254,020 (GRCm39) R383* probably null Het
Prl7a2 C T 13: 27,843,143 (GRCm39) R220H probably benign Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rc3h2 A G 2: 37,279,867 (GRCm39) V454A possibly damaging Het
Robo1 A G 16: 72,732,665 (GRCm39) T307A probably damaging Het
Slc22a6 T C 19: 8,596,786 (GRCm39) L188P probably damaging Het
Spag17 A G 3: 100,016,726 (GRCm39) N2167S probably benign Het
Spag5 G A 11: 78,205,588 (GRCm39) E680K probably damaging Het
Spata6 A G 4: 111,680,026 (GRCm39) Y428C possibly damaging Het
Tbc1d5 T C 17: 51,291,660 (GRCm39) D47G probably benign Het
Trp53 T C 11: 69,479,566 (GRCm39) probably null Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttc39b T C 4: 83,180,084 (GRCm39) D103G probably damaging Het
Ttn A C 2: 76,750,322 (GRCm39) W3576G probably benign Het
Yeats2 T A 16: 19,972,912 (GRCm39) M22K probably damaging 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
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
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'- GAGAGCGGATAGATTTGCTCTG -3'
(R):5'- GACCTGCTGCTTTCACACAC -3'

Sequencing Primer
(F):5'- GATGGATTGGTCTGATGGCTCAC -3'
(R):5'- TACTGACCCATAAATTCCAGGAATG -3'
Posted On 2016-08-04