Incidental Mutation 'R8244:Igsf23'
ID 640867
Institutional Source Beutler Lab
Gene Symbol Igsf23
Ensembl Gene ENSMUSG00000040498
Gene Name immunoglobulin superfamily, member 23
Synonyms 2210010C17Rik
MMRRC Submission 067672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R8244 (G1)
Quality Score 147.008
Status Validated
Chromosome 7
Chromosomal Location 19671230-19684681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19675798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 141 (C141S)
Ref Sequence ENSEMBL: ENSMUSP00000047914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043440] [ENSMUST00000208974]
AlphaFold B2RTN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000043440
AA Change: C141S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047914
Gene: ENSMUSG00000040498
AA Change: C141S

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
IG 107 181 2.71e0 SMART
low complexity region 182 195 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208974
AA Change: C103S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,271,004 (GRCm39) I133T probably damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Alg5 A G 3: 54,646,221 (GRCm39) I29V probably benign Het
Ankar A G 1: 72,690,183 (GRCm39) I1216T probably benign Het
Ap5z1 A T 5: 142,459,735 (GRCm39) T462S possibly damaging Het
Apc2 A T 10: 80,151,166 (GRCm39) R2073S probably damaging Het
Apob A T 12: 8,060,548 (GRCm39) E3010V probably damaging Het
Arid3c T G 4: 41,729,997 (GRCm39) E66A possibly damaging Het
Atf7 A G 15: 102,437,301 (GRCm39) S54P unknown Het
Cbx3 C T 6: 51,452,350 (GRCm39) T55I probably benign Het
Clptm1 A T 7: 19,372,916 (GRCm39) F205I possibly damaging Het
Cramp1 T A 17: 25,190,384 (GRCm39) I1117F probably damaging Het
Dgkq A G 5: 108,796,578 (GRCm39) *935Q probably null Het
Dock2 A T 11: 34,586,280 (GRCm39) F511I probably damaging Het
Efr3a G A 15: 65,687,217 (GRCm39) R15H probably damaging Het
Ehmt2 A G 17: 35,124,238 (GRCm39) D385G probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gfpt1 T A 6: 87,040,613 (GRCm39) probably benign Het
Gm21680 T C 5: 26,173,983 (GRCm39) E207G probably damaging Het
Ktn1 A T 14: 47,912,280 (GRCm39) E349V probably null Het
Lrp1b T C 2: 41,396,794 (GRCm39) D424G Het
Lrrc9 A G 12: 72,546,384 (GRCm39) I1190V probably benign Het
Lztfl1 T A 9: 123,541,514 (GRCm39) I102F probably damaging Het
Mapk11 G T 15: 89,030,007 (GRCm39) T203K possibly damaging Het
Mgam T A 6: 40,727,520 (GRCm39) I1315N probably damaging Het
Nf1 T C 11: 79,331,750 (GRCm39) M695T probably benign Het
Pdcd4 A G 19: 53,895,965 (GRCm39) T8A probably benign Het
Pramel27 T C 4: 143,579,854 (GRCm39) Y480H probably damaging Het
Ptx4 A G 17: 25,341,839 (GRCm39) K105E possibly damaging Het
Pxn C T 5: 115,690,302 (GRCm39) P381L probably damaging Het
Rtn4rl1 T C 11: 75,156,276 (GRCm39) L236P probably damaging Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sh2b2 G T 5: 136,256,291 (GRCm39) S247* probably null Het
Sim2 T A 16: 93,910,222 (GRCm39) V208E probably damaging Het
Slc44a4 T C 17: 35,140,548 (GRCm39) L247P probably damaging Het
Sox1 GGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGG 8: 12,446,468 (GRCm39) probably benign Het
Tacc2 A G 7: 130,330,406 (GRCm39) D1937G probably damaging Het
Tmem131 T C 1: 36,847,974 (GRCm39) N1158S probably benign Het
Tns1 G T 1: 73,976,410 (GRCm39) A1146E probably damaging Het
Tom1l1 T C 11: 90,548,647 (GRCm39) E308G probably benign Het
Ttn T A 2: 76,659,051 (GRCm39) K12262* probably null Het
Vps13b G T 15: 35,917,349 (GRCm39) G3731V probably damaging Het
Wdr20 G A 12: 110,760,076 (GRCm39) E321K probably benign Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Zfp979 A T 4: 147,697,933 (GRCm39) C259S possibly damaging Het
Zscan20 T C 4: 128,479,759 (GRCm39) T911A probably benign Het
Other mutations in Igsf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Igsf23 APN 7 19,672,161 (GRCm39) utr 3 prime probably benign
R0334:Igsf23 UTSW 7 19,675,678 (GRCm39) missense probably benign 0.27
R0831:Igsf23 UTSW 7 19,675,662 (GRCm39) splice site probably benign
R2351:Igsf23 UTSW 7 19,678,723 (GRCm39) nonsense probably null
R4835:Igsf23 UTSW 7 19,675,755 (GRCm39) missense possibly damaging 0.80
R4850:Igsf23 UTSW 7 19,687,859 (GRCm39) unclassified probably benign
R6739:Igsf23 UTSW 7 19,678,673 (GRCm39) missense probably damaging 0.97
R6924:Igsf23 UTSW 7 19,675,684 (GRCm39) missense possibly damaging 0.83
R8285:Igsf23 UTSW 7 19,675,881 (GRCm39) missense possibly damaging 0.90
R9747:Igsf23 UTSW 7 19,675,839 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TACAGGAAGCCAGCTGTAGACC -3'
(R):5'- CATGTAACTGTGTGGGGCAG -3'

Sequencing Primer
(F):5'- AAGCCAGCTGTAGACCCATGTG -3'
(R):5'- CAGAAGAGATGCCAGTGTCTC -3'
Posted On 2020-07-28