Incidental Mutation 'R8842:Igsf11'
ID 674498
Institutional Source Beutler Lab
Gene Symbol Igsf11
Ensembl Gene ENSMUSG00000022790
Gene Name immunoglobulin superfamily, member 11
Synonyms 1700025L02Rik, BT-IgSF
MMRRC Submission 068669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8842 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38713033-38847521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38829243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 46 (I46V)
Ref Sequence ENSEMBL: ENSMUSP00000110354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023478] [ENSMUST00000114706]
AlphaFold P0C673
Predicted Effect probably benign
Transcript: ENSMUST00000023478
AA Change: I105V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: I105V

DomainStartEndE-ValueType
IG 29 143 4.32e-8 SMART
IGc2 156 222 2.54e-5 SMART
transmembrane domain 240 262 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
low complexity region 301 319 N/A INTRINSIC
Blast:DEXDc 355 425 8e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000114706
AA Change: I46V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: I46V

DomainStartEndE-ValueType
IG_like 11 84 3.12e1 SMART
IGc2 97 163 2.54e-5 SMART
transmembrane domain 181 203 N/A INTRINSIC
low complexity region 212 227 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
Blast:DEXDc 296 366 5e-14 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted synaptic transmission and plasticity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap17 G A 7: 122,893,750 (GRCm39) P557S probably benign Het
Atad5 G T 11: 80,000,910 (GRCm39) D1014Y possibly damaging Het
Bmp6 T A 13: 38,530,359 (GRCm39) S151T probably benign Het
Bmp6 C T 13: 38,682,795 (GRCm39) Q459* probably null Het
Ccdc39 A G 3: 33,880,612 (GRCm39) Y452H probably damaging Het
Cenpj A G 14: 56,780,329 (GRCm39) Y961H probably damaging Het
Col6a6 A T 9: 105,655,166 (GRCm39) Y852N probably damaging Het
Cpne8 A G 15: 90,456,218 (GRCm39) I156T probably benign Het
Cul1 T A 6: 47,492,010 (GRCm39) L430Q probably damaging Het
Dhx30 A G 9: 109,914,296 (GRCm39) S1031P probably benign Het
Dhx9 A T 1: 153,338,335 (GRCm39) F774I possibly damaging Het
Fezf2 A C 14: 12,345,079 (GRCm38) M36R probably damaging Het
Gbp2b A T 3: 142,312,576 (GRCm39) I320L probably benign Het
Gemin6 T A 17: 80,533,115 (GRCm39) V16D possibly damaging Het
Gpr158 T A 2: 21,581,751 (GRCm39) V410D possibly damaging Het
H2-DMb2 C T 17: 34,366,904 (GRCm39) T112M probably damaging Het
Hecw2 T C 1: 53,990,033 (GRCm39) T114A Het
Herc2 G T 7: 55,738,059 (GRCm39) R234L probably damaging Het
Izumo1r C T 9: 14,813,705 (GRCm39) G38S possibly damaging Het
Katna1 A G 10: 7,614,600 (GRCm39) D36G probably benign Het
Kdm1b G T 13: 47,231,832 (GRCm39) R697L probably damaging Het
Kif1b T A 4: 149,338,196 (GRCm39) I483F probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrp1b G A 2: 41,158,417 (GRCm39) T1714I Het
Man2a2 A G 7: 80,003,067 (GRCm39) L1014P probably damaging Het
Marf1 T C 16: 13,935,169 (GRCm39) E1533G probably damaging Het
Mfsd2a A T 4: 122,845,623 (GRCm39) I176N probably damaging Het
Mterf1b T A 5: 4,246,961 (GRCm39) F201I possibly damaging Het
Neurod2 T C 11: 98,218,507 (GRCm39) E219G probably damaging Het
Nln T C 13: 104,209,486 (GRCm39) E29G probably benign Het
Obscn G A 11: 58,892,861 (GRCm39) T6795M possibly damaging Het
Or1e1c G T 11: 73,266,186 (GRCm39) V207F probably benign Het
Or1i2 A G 10: 78,447,635 (GRCm39) V280A possibly damaging Het
Or1n1 C A 2: 36,749,539 (GRCm39) A274S probably benign Het
Or4c118 C T 2: 88,975,074 (GRCm39) V98I probably benign Het
Otog A T 7: 45,895,948 (GRCm39) I138F probably damaging Het
Pdcd2l G A 7: 33,884,192 (GRCm39) Q337* probably null Het
Ptprk A T 10: 28,442,497 (GRCm39) N859I probably damaging Het
Pygl G T 12: 70,274,368 (GRCm39) probably benign Het
Sema4d C T 13: 51,863,018 (GRCm39) A447T probably benign Het
Slc27a6 A T 18: 58,712,888 (GRCm39) S237C probably benign Het
Smarcc1 G A 9: 110,051,199 (GRCm39) M1006I possibly damaging Het
Sult2a2 G T 7: 13,472,192 (GRCm39) G130C probably damaging Het
Trpm7 T A 2: 126,663,131 (GRCm39) H1039L probably benign Het
Wdr64 T G 1: 175,599,893 (GRCm39) N573K probably benign Het
Zbtb48 T C 4: 152,104,496 (GRCm39) I611V probably benign Het
Zer1 T C 2: 30,001,062 (GRCm39) S120G possibly damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging Het
Other mutations in Igsf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Igsf11 APN 16 38,829,279 (GRCm39) missense probably damaging 1.00
R0139:Igsf11 UTSW 16 38,829,240 (GRCm39) missense probably damaging 1.00
R0348:Igsf11 UTSW 16 38,829,179 (GRCm39) missense probably benign 0.01
R1268:Igsf11 UTSW 16 38,845,216 (GRCm39) missense probably benign 0.01
R4494:Igsf11 UTSW 16 38,831,703 (GRCm39) missense possibly damaging 0.46
R4791:Igsf11 UTSW 16 38,845,226 (GRCm39) missense probably damaging 0.99
R5387:Igsf11 UTSW 16 38,842,785 (GRCm39) missense probably damaging 1.00
R5572:Igsf11 UTSW 16 38,845,294 (GRCm39) missense probably damaging 0.97
R6150:Igsf11 UTSW 16 38,843,711 (GRCm39) missense probably damaging 0.96
R6340:Igsf11 UTSW 16 38,829,336 (GRCm39) missense probably benign
R6815:Igsf11 UTSW 16 38,829,243 (GRCm39) missense probably benign 0.02
R7521:Igsf11 UTSW 16 38,829,274 (GRCm39) missense probably damaging 1.00
R7533:Igsf11 UTSW 16 38,829,236 (GRCm39) missense probably benign 0.07
R7732:Igsf11 UTSW 16 38,829,160 (GRCm39) missense probably damaging 0.99
R7838:Igsf11 UTSW 16 38,827,565 (GRCm39) missense possibly damaging 0.65
R8305:Igsf11 UTSW 16 38,827,586 (GRCm39) missense probably damaging 1.00
R9732:Igsf11 UTSW 16 38,843,652 (GRCm39) missense probably benign 0.16
X0026:Igsf11 UTSW 16 38,827,648 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GCTGTCACAAGAAGTTGTCCAC -3'
(R):5'- CTGTGCATGAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- ACCCTGAGGAATTAAAAATTTCATCC -3'
(R):5'- CAGGGAAGGAACTCAGACCC -3'
Posted On 2021-07-15