Incidental Mutation 'R7363:Il23a'
ID 571487
Institutional Source Beutler Lab
Gene Symbol Il23a
Ensembl Gene ENSMUSG00000025383
Gene Name interleukin 23, alpha subunit p19
Synonyms IL-23p19, p19, IL-23
MMRRC Submission 045448-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7363 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128132009-128133953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128133020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 113 (E113G)
Ref Sequence ENSEMBL: ENSMUSP00000026449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026449] [ENSMUST00000085708] [ENSMUST00000105238]
AlphaFold Q9EQ14
Predicted Effect probably damaging
Transcript: ENSMUST00000026449
AA Change: E113G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026449
Gene: ENSMUSG00000025383
AA Change: E113G

DomainStartEndE-ValueType
Pfam:IL23 28 185 2.4e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085708
SMART Domains Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 138 314 5e-52 PFAM
Pfam:STAT_bind 316 564 1.2e-96 PFAM
SH2 576 652 4.71e-6 SMART
internal_repeat_1 750 778 6.35e-10 PROSPERO
internal_repeat_1 822 850 6.35e-10 PROSPERO
Pfam:STAT2_C 853 907 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105238
SMART Domains Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 141 314 2.6e-49 PFAM
Pfam:STAT_bind 316 564 1.5e-67 PFAM
SH2 577 653 4.71e-6 SMART
internal_repeat_1 751 779 6.69e-10 PROSPERO
internal_repeat_1 823 851 6.69e-10 PROSPERO
Pfam:STAT2_C 854 908 1.7e-27 PFAM
Meta Mutation Damage Score 0.5522 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are resistant to experimental autoimmune encephalomyelitis and have inefficient responses by CD4+ T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,782 (GRCm39) N190I probably damaging Het
Ablim1 G T 19: 57,204,173 (GRCm39) L73I probably benign Het
Adamts4 A T 1: 171,086,608 (GRCm39) Q800L probably benign Het
Atm A T 9: 53,376,598 (GRCm39) I2014N probably damaging Het
Atp2a1 A G 7: 126,062,061 (GRCm39) C12R possibly damaging Het
B3galnt1 A T 3: 69,483,157 (GRCm39) Y35N probably damaging Het
Bnc2 A T 4: 84,210,308 (GRCm39) M687K probably benign Het
Cacna2d4 A G 6: 119,320,939 (GRCm39) Y917C probably damaging Het
Cemip2 T C 19: 21,833,575 (GRCm39) F1338L probably benign Het
Ces2e A G 8: 105,659,632 (GRCm39) probably null Het
Cldn23 A G 8: 36,292,659 (GRCm39) probably null Het
Cntn5 G T 9: 10,172,021 (GRCm39) S54R probably benign Het
Cyria T A 12: 12,390,665 (GRCm39) probably null Het
Dido1 G T 2: 180,304,310 (GRCm39) S1198* probably null Het
Dnah12 A G 14: 26,445,766 (GRCm39) M776V probably benign Het
Dnah14 A G 1: 181,518,089 (GRCm39) probably null Het
Dnttip1 GGGCCGGC GGGC 2: 164,599,605 (GRCm39) probably null Het
Dusp28 A T 1: 92,834,861 (GRCm39) T29S probably benign Het
Erich1 A T 8: 14,083,688 (GRCm39) S127R probably benign Het
Fam151a T A 4: 106,602,681 (GRCm39) L200H probably damaging Het
Fbxw8 A T 5: 118,263,057 (GRCm39) H207Q probably damaging Het
Fgf22 A G 10: 79,592,676 (GRCm39) E116G probably benign Het
Gapvd1 C A 2: 34,602,207 (GRCm39) V647F probably benign Het
Garin4 A T 1: 190,895,910 (GRCm39) S244R probably damaging Het
Gja4 T A 4: 127,206,487 (GRCm39) Y92F probably damaging Het
Gtf3c2 G A 5: 31,327,600 (GRCm39) R288W probably damaging Het
Hira G T 16: 18,716,532 (GRCm39) R99L possibly damaging Het
Ighv16-1 C T 12: 114,032,721 (GRCm39) G27D probably damaging Het
Igkv1-133 C T 6: 67,702,395 (GRCm39) P38S probably benign Het
Igkv4-59 T C 6: 69,415,396 (GRCm39) Y53C probably damaging Het
Kcnip1 A G 11: 33,584,589 (GRCm39) V188A probably benign Het
L3mbtl3 T C 10: 26,216,850 (GRCm39) K155E unknown Het
Lancl2 T G 6: 57,699,664 (GRCm39) C169G probably benign Het
Lrrc26 A G 2: 25,180,581 (GRCm39) D194G probably benign Het
Lrrfip1 C T 1: 91,050,842 (GRCm39) A545V probably benign Het
Lrtm1 T C 14: 28,743,850 (GRCm39) F106S probably damaging Het
Lypd2 A T 15: 74,604,848 (GRCm39) M49K probably damaging Het
Mbd1 A C 18: 74,406,357 (GRCm39) D63A probably damaging Het
Mdn1 T C 4: 32,691,729 (GRCm39) F990L probably damaging Het
Mtfr1l T C 4: 134,256,577 (GRCm39) E196G probably benign Het
Myh10 A G 11: 68,705,874 (GRCm39) T2007A probably benign Het
Nckap1 G A 2: 80,370,512 (GRCm39) R393C probably damaging Het
Nup205 C T 6: 35,209,508 (GRCm39) T1605M probably benign Het
Or1e33 T C 11: 73,738,741 (GRCm39) D70G probably damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Pgap2 T A 7: 101,875,467 (GRCm39) probably null Het
Pitrm1 A G 13: 6,619,387 (GRCm39) S741G probably benign Het
Plcd4 A T 1: 74,590,231 (GRCm39) S155C probably null Het
Poc5 A T 13: 96,540,925 (GRCm39) T365S possibly damaging Het
Ppp2r5c G A 12: 110,489,041 (GRCm39) A71T probably benign Het
Prdm6 T A 18: 53,598,199 (GRCm39) I187N possibly damaging Het
Pxk A G 14: 8,152,118 (GRCm38) Q478R probably benign Het
Rgl1 T C 1: 152,394,914 (GRCm39) Y718C probably damaging Het
Ring1 G T 17: 34,243,336 (GRCm39) T2K possibly damaging Het
Sdk1 A G 5: 142,173,897 (GRCm39) S2022G probably benign Het
Sec61a1 C A 6: 88,492,533 (GRCm39) V32F probably benign Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Syne1 T C 10: 5,090,970 (GRCm39) S795G possibly damaging Het
Tmod2 T C 9: 75,484,023 (GRCm39) E309G probably damaging Het
Tpp2 T G 1: 44,024,582 (GRCm39) S987A probably benign Het
Trim75 G C 8: 65,435,539 (GRCm39) H304D probably damaging Het
Trp53bp2 G T 1: 182,272,231 (GRCm39) D447Y probably damaging Het
Ube3a A G 7: 58,936,751 (GRCm39) K697E probably benign Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r4 G A 3: 64,314,432 (GRCm39) S183F probably damaging Het
Vwa8 T C 14: 79,256,147 (GRCm39) Y721H probably benign Het
Wbp1l C T 19: 46,642,569 (GRCm39) P190L possibly damaging Het
Zcchc4 A T 5: 52,942,510 (GRCm39) Q105L possibly damaging Het
Zfp236 T C 18: 82,639,456 (GRCm39) R1264G probably damaging Het
Zfpm2 T A 15: 40,616,413 (GRCm39) N54K probably damaging Het
Zkscan3 C T 13: 21,571,992 (GRCm39) G547S probably damaging Het
Other mutations in Il23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9159:Il23a UTSW 10 128,133,427 (GRCm39) nonsense probably null
R9322:Il23a UTSW 10 128,132,990 (GRCm39) missense probably benign
R9477:Il23a UTSW 10 128,133,922 (GRCm39) start gained probably benign
R9775:Il23a UTSW 10 128,132,829 (GRCm39) missense probably benign 0.04
R9777:Il23a UTSW 10 128,132,829 (GRCm39) missense probably benign 0.04
R9796:Il23a UTSW 10 128,132,829 (GRCm39) missense probably benign 0.04
R9798:Il23a UTSW 10 128,132,829 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTGGCTGAAAGACACAGGACAC -3'
(R):5'- AGCGTCCATGGCCATTTAGC -3'

Sequencing Primer
(F):5'- GGACACAGTCAGAAAGGACTCC -3'
(R):5'- GCCTAAGGTAGTGAAATGCTGTC -3'
Posted On 2019-09-13