Incidental Mutation 'R0520:Igsf9b'
ID 48460
Institutional Source Beutler Lab
Gene Symbol Igsf9b
Ensembl Gene ENSMUSG00000034275
Gene Name immunoglobulin superfamily, member 9B
Synonyms AI414108, LOC235086
MMRRC Submission 038713-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R0520 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 27210500-27268842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27234546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 470 (S470R)
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: S470R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: S470R

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: S470R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: S470R

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: S470R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,288,952 (GRCm39) I154T possibly damaging Het
Acr G T 15: 89,457,430 (GRCm39) C226F probably damaging Het
Aff1 C T 5: 103,995,617 (GRCm39) R1070* probably null Het
Aldh9a1 C T 1: 167,188,960 (GRCm39) probably benign Het
Apaf1 A T 10: 90,915,851 (GRCm39) H12Q probably damaging Het
Asic1 A T 15: 99,593,416 (GRCm39) I291F probably damaging Het
Aspm T A 1: 139,406,558 (GRCm39) M1815K possibly damaging Het
Asxl3 A T 18: 22,656,043 (GRCm39) D1351V probably damaging Het
Atg9a C T 1: 75,163,178 (GRCm39) W299* probably null Het
B3gntl1 C A 11: 121,514,314 (GRCm39) V313F possibly damaging Het
B4galnt4 T A 7: 140,647,286 (GRCm39) C345* probably null Het
Bicc1 A T 10: 70,793,020 (GRCm39) F211L probably damaging Het
Cachd1 T G 4: 100,754,900 (GRCm39) V117G probably damaging Het
Cdc16 G A 8: 13,810,569 (GRCm39) probably null Het
Cers6 C T 2: 68,935,435 (GRCm39) Q312* probably null Het
Csta2 A G 16: 36,073,461 (GRCm39) I16V probably benign Het
Dclre1c A G 2: 3,437,512 (GRCm39) H115R probably damaging Het
Ddx20 T C 3: 105,594,692 (GRCm39) T18A probably benign Het
Dhx57 A G 17: 80,565,604 (GRCm39) V816A possibly damaging Het
Dlgap1 C T 17: 70,823,989 (GRCm39) Q325* probably null Het
Dnaja1 A T 4: 40,728,072 (GRCm39) M178L probably benign Het
Ecd A T 14: 20,378,732 (GRCm39) S454T probably benign Het
Efcab6 G A 15: 83,834,247 (GRCm39) H454Y probably benign Het
Exo1 T A 1: 175,727,031 (GRCm39) D447E probably benign Het
F5 T G 1: 164,037,156 (GRCm39) I1965S probably benign Het
Fbn2 A G 18: 58,146,821 (GRCm39) C2692R probably damaging Het
Fggy T A 4: 95,489,340 (GRCm39) L152Q probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9871 A G 6: 101,778,540 (GRCm39) noncoding transcript Het
Gnai2 A T 9: 107,497,372 (GRCm39) D7E probably benign Het
Gon7 C T 12: 102,724,047 (GRCm39) probably benign Het
H2-K2 A T 17: 34,216,390 (GRCm39) V272E probably damaging Het
Hectd4 G T 5: 121,469,770 (GRCm39) R2555L possibly damaging Het
Hexb T C 13: 97,317,618 (GRCm39) R360G probably benign Het
Inpp5d T C 1: 87,633,642 (GRCm39) probably benign Het
Inpp5k C A 11: 75,530,356 (GRCm39) Y265* probably null Het
Klhl33 T G 14: 51,129,140 (GRCm39) E436D probably damaging Het
Krt80 A G 15: 101,267,898 (GRCm39) L13P probably benign Het
Krtap19-2 C T 16: 88,670,749 (GRCm39) probably benign Het
Marchf10 T C 11: 105,280,708 (GRCm39) T526A probably benign Het
Mcrs1 A G 15: 99,146,336 (GRCm39) probably null Het
Msh2 G T 17: 88,024,972 (GRCm39) V617F possibly damaging Het
Nckap1 A C 2: 80,371,874 (GRCm39) probably benign Het
Nek4 T A 14: 30,681,263 (GRCm39) probably benign Het
Or7h8 G A 9: 20,123,791 (GRCm39) V49I probably benign Het
Or8b12b T C 9: 37,684,849 (GRCm39) V298A probably benign Het
Or8k22 G T 2: 86,163,475 (GRCm39) T75K probably damaging Het
Or9s14 T A 1: 92,536,471 (GRCm39) V304E probably damaging Het
Osgin1 A G 8: 120,169,247 (GRCm39) H48R probably damaging Het
Pam T A 1: 97,811,920 (GRCm39) T369S probably benign Het
Pclo C T 5: 14,763,844 (GRCm39) Q821* probably null Het
Plekhm1 T C 11: 103,285,770 (GRCm39) I222V probably benign Het
Ptprg T G 14: 12,199,783 (GRCm38) N65K possibly damaging Het
Pum2 T A 12: 8,771,710 (GRCm39) V351E probably damaging Het
Slc25a54 T A 3: 109,014,546 (GRCm39) probably benign Het
Smchd1 A T 17: 71,736,538 (GRCm39) D587E possibly damaging Het
Stap1 A G 5: 86,238,823 (GRCm39) M164V probably benign Het
Stat5a T C 11: 100,752,252 (GRCm39) V30A probably damaging Het
Stk36 T G 1: 74,641,365 (GRCm39) probably benign Het
Tiam1 G T 16: 89,614,839 (GRCm39) probably benign Het
Tmc5 T C 7: 118,265,799 (GRCm39) M553T probably damaging Het
Tmem14a T A 1: 21,299,636 (GRCm39) Y89N possibly damaging Het
Tpp2 A G 1: 44,029,690 (GRCm39) Y991C probably damaging Het
Ttc7 A G 17: 87,666,579 (GRCm39) K615E possibly damaging Het
Ubac2 C T 14: 122,231,754 (GRCm39) P227S probably damaging Het
Vit A C 17: 78,932,588 (GRCm39) K565T probably damaging Het
Vps13c T C 9: 67,853,133 (GRCm39) F2409L possibly damaging Het
Wdr64 A G 1: 175,553,958 (GRCm39) T173A probably damaging Het
Zfp759 T C 13: 67,285,419 (GRCm39) I60T probably benign Het
Zfp81 A G 17: 33,553,351 (GRCm39) S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCCCTGTCATCACCTGGAGGAAG -3'
(R):5'- GGTTCAAGTTGTCATCCCTGGCAC -3'

Sequencing Primer
(F):5'- CTACTTGGACCAGTGTGGACAG -3'
(R):5'- TCATCCCTGGCACGACTG -3'
Posted On 2013-06-12