Incidental Mutation 'R6739:Igsf23'
ID 530351
Institutional Source Beutler Lab
Gene Symbol Igsf23
Ensembl Gene ENSMUSG00000040498
Gene Name immunoglobulin superfamily, member 23
Synonyms 2210010C17Rik
MMRRC Submission 044857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6739 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19671230-19684681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19678673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000147077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043440] [ENSMUST00000208974]
AlphaFold B2RTN2
Predicted Effect probably damaging
Transcript: ENSMUST00000043440
AA Change: L77P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047914
Gene: ENSMUSG00000040498
AA Change: L77P

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 noncoding transcript
Transcript: ENSMUST00000207343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208210
Predicted Effect probably damaging
Transcript: ENSMUST00000208974
AA Change: L39P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,658 (GRCm39) V14A probably benign Het
Ank2 A T 3: 126,873,643 (GRCm39) N59K probably damaging Het
Ano4 T C 10: 88,863,114 (GRCm39) Y286C probably damaging Het
Arhgap21 G A 2: 20,885,543 (GRCm39) H545Y possibly damaging Het
Arid1a T A 4: 133,414,937 (GRCm39) S1152C unknown Het
Cfap73 T C 5: 120,768,258 (GRCm39) T167A probably benign Het
Ctbs A T 3: 146,165,254 (GRCm39) probably null Het
Dmgdh T A 13: 93,857,123 (GRCm39) N742K probably benign Het
Dmxl1 T C 18: 50,011,313 (GRCm39) S1157P probably benign Het
Dnm3 T C 1: 162,305,352 (GRCm39) N14S probably damaging Het
Dpp4 C T 2: 62,217,439 (GRCm39) V53I probably benign Het
Etl4 A G 2: 20,718,246 (GRCm39) N329S probably damaging Het
Fbxw25 A G 9: 109,480,699 (GRCm39) V327A probably benign Het
Gsg1 T A 6: 135,214,612 (GRCm39) Q299L probably damaging Het
Il17rd A G 14: 26,821,488 (GRCm39) R261G possibly damaging Het
Krt75 C T 15: 101,479,503 (GRCm39) D276N probably benign Het
Lox T C 18: 52,660,031 (GRCm39) T268A possibly damaging Het
Mroh4 T C 15: 74,481,568 (GRCm39) S825G probably benign Het
Nlrp9c T C 7: 26,084,850 (GRCm39) D243G probably damaging Het
Or10a5 T C 7: 106,636,018 (GRCm39) Y219H probably damaging Het
Or1x6 T A 11: 50,939,564 (GRCm39) V210E probably damaging Het
Picalm C A 7: 89,825,916 (GRCm39) T131N probably damaging Het
Pitpnm1 T A 19: 4,160,522 (GRCm39) L781H probably damaging Het
Proz A T 8: 13,123,451 (GRCm39) I241F possibly damaging Het
Rb1cc1 A G 1: 6,304,454 (GRCm39) D67G probably damaging Het
Rnf213 T A 11: 119,333,097 (GRCm39) C2769S probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn8a T C 15: 100,913,836 (GRCm39) I1076T possibly damaging Het
Snrnp70 A T 7: 45,036,843 (GRCm39) D100E probably damaging Het
Triobp T A 15: 78,850,566 (GRCm39) L240Q possibly damaging Het
Vmn2r5 A G 3: 64,398,637 (GRCm39) S781P probably damaging Het
Zfp451 A G 1: 33,842,675 (GRCm39) probably benign Het
Zfta C T 19: 7,398,712 (GRCm39) R243* probably null 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
R6924:Igsf23 UTSW 7 19,675,684 (GRCm39) missense possibly damaging 0.83
R8244:Igsf23 UTSW 7 19,675,798 (GRCm39) missense possibly damaging 0.66
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'- TTTCTGAGAATGGGCCCCAC -3'
(R):5'- AGTATGTCACCTGTGGTCTCAC -3'

Sequencing Primer
(F):5'- ATGGGCCCCACTCACACTTC -3'
(R):5'- ATGTCACCTGTGGTCTCACTTGTC -3'
Posted On 2018-08-01