Incidental Mutation 'R6340:Igsf11'
ID 513898
Institutional Source Beutler Lab
Gene Symbol Igsf11
Ensembl Gene ENSMUSG00000022790
Gene Name immunoglobulin superfamily, member 11
Synonyms 1700025L02Rik, BT-IgSF
MMRRC Submission 044494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6340 (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 38829336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 77 (T77A)
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: T136A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: T136A

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: T77A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: T77A

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
Meta Mutation Damage Score 0.1829 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 98% (41/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,771,304 (GRCm39) L1204F probably damaging Het
Atp9b T C 18: 80,822,115 (GRCm39) D495G probably benign Het
B020011L13Rik G A 1: 117,729,614 (GRCm39) V374I probably benign Het
Babam1 T A 8: 71,855,449 (GRCm39) V214D probably damaging Het
Chpf2 T C 5: 24,796,773 (GRCm39) V573A probably damaging Het
Elmo3 T A 8: 106,033,379 (GRCm39) I115N probably damaging Het
Emc1 T A 4: 139,092,874 (GRCm39) Y564N probably damaging Het
Fam180a A C 6: 35,292,322 (GRCm39) L28R probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Fnip2 A G 3: 79,415,152 (GRCm39) F243L probably damaging Het
Gabra5 A T 7: 57,063,496 (GRCm39) N309K probably damaging Het
Gm17654 A G 14: 43,815,534 (GRCm39) L91P unknown Het
Gm19684 G A 17: 36,438,402 (GRCm39) probably null Het
Gm9376 A T 14: 118,504,669 (GRCm39) M34L unknown Het
Hmgcr A G 13: 96,802,366 (GRCm39) F106S probably damaging Het
Hydin T G 8: 111,081,574 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,191,393 (GRCm39) Y5H probably damaging Het
Il20 A G 1: 130,836,118 (GRCm39) Y142H probably benign Het
Macf1 A T 4: 123,342,042 (GRCm39) D2160E probably benign Het
Melk A G 4: 44,340,633 (GRCm39) Y310C probably damaging Het
Mep1a C T 17: 43,789,949 (GRCm39) V454M probably benign Het
Mep1a A T 17: 43,790,124 (GRCm39) N395K probably benign Het
Mnt A G 11: 74,727,242 (GRCm39) K43E probably damaging Het
Nrap A G 19: 56,335,616 (GRCm39) I853T probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or1j13 T C 2: 36,370,032 (GRCm39) T37A probably benign Het
Or8d1b T G 9: 38,887,062 (GRCm39) L30R probably damaging Het
Pdia4 A G 6: 47,777,952 (GRCm39) S347P probably benign Het
Pkd1l1 T G 11: 8,794,649 (GRCm39) Q1837H probably benign Het
Pramel11 T C 4: 143,623,877 (GRCm39) N99S possibly damaging Het
Pygo1 T A 9: 72,852,711 (GRCm39) N299K probably damaging Het
Sirpb1b A T 3: 15,613,725 (GRCm39) V52E probably damaging Het
Tdrd7 T A 4: 45,994,517 (GRCm39) I305N probably damaging Het
Trav14-1 T C 14: 53,791,955 (GRCm39) S102P probably damaging Het
Tsga10 C A 1: 37,874,266 (GRCm39) probably benign Het
Uso1 T A 5: 92,347,711 (GRCm39) H837Q probably benign Het
Vmn2r82 A T 10: 79,231,727 (GRCm39) R575S probably benign Het
Yae1d1 C A 13: 18,167,861 (GRCm39) A11S probably benign Het
Zfp277 A G 12: 40,368,548 (GRCm39) I459T possibly 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
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
R8842:Igsf11 UTSW 16 38,829,243 (GRCm39) missense probably benign 0.02
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'- GGTGGACAAATGTTTGACGGC -3'
(R):5'- CTGTCAGAAAACAGCATCAAATGGTC -3'

Sequencing Primer
(F):5'- AAATGTTTGACGGCGCCCTC -3'
(R):5'- GCATCAAATGGTCAATTTAAGAGTGG -3'
Posted On 2018-04-27