Incidental Mutation 'R5157:Igsf21'
ID 396771
Institutional Source Beutler Lab
Gene Symbol Igsf21
Ensembl Gene ENSMUSG00000040972
Gene Name immunoglobulin superfamily, member 21
Synonyms LOC230868
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5157 (G1)
Quality Score 202
Status Validated
Chromosome 4
Chromosomal Location 139754157-139974095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139755378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 426 (T426A)
Ref Sequence ENSEMBL: ENSMUSP00000046558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039331]
AlphaFold Q7TNR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000039331
AA Change: T426A

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046558
Gene: ENSMUSG00000040972
AA Change: T426A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 141 1.93e-5 SMART
IG 348 431 2.38e0 SMART
Meta Mutation Damage Score 0.2255 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which has two immunoglobulin (Ig) domains 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, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal differentiation of inhibitory synapses with decreased mIPSC frequency and prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Igsf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Igsf21 APN 4 139,755,029 (GRCm39) splice site probably benign
IGL01613:Igsf21 APN 4 139,834,675 (GRCm39) missense possibly damaging 0.75
IGL01618:Igsf21 APN 4 139,834,675 (GRCm39) missense possibly damaging 0.75
R1458:Igsf21 UTSW 4 139,755,435 (GRCm39) missense probably damaging 1.00
R1464:Igsf21 UTSW 4 139,761,836 (GRCm39) missense probably benign
R1464:Igsf21 UTSW 4 139,761,836 (GRCm39) missense probably benign
R1793:Igsf21 UTSW 4 139,761,703 (GRCm39) missense probably damaging 1.00
R1913:Igsf21 UTSW 4 139,834,623 (GRCm39) missense probably benign
R2220:Igsf21 UTSW 4 139,755,425 (GRCm39) missense probably damaging 1.00
R4013:Igsf21 UTSW 4 139,764,780 (GRCm39) missense possibly damaging 0.92
R4721:Igsf21 UTSW 4 139,834,621 (GRCm39) missense probably benign 0.09
R4911:Igsf21 UTSW 4 139,761,934 (GRCm39) missense probably benign 0.01
R5725:Igsf21 UTSW 4 139,762,054 (GRCm39) missense probably benign 0.02
R5778:Igsf21 UTSW 4 139,764,832 (GRCm39) missense probably benign 0.28
R5804:Igsf21 UTSW 4 139,755,385 (GRCm39) missense possibly damaging 0.70
R6140:Igsf21 UTSW 4 139,834,684 (GRCm39) missense probably benign 0.10
R6778:Igsf21 UTSW 4 139,761,959 (GRCm39) missense probably benign 0.05
R6888:Igsf21 UTSW 4 139,762,054 (GRCm39) missense probably benign 0.02
R6963:Igsf21 UTSW 4 139,755,041 (GRCm39) missense probably benign 0.02
R7203:Igsf21 UTSW 4 139,834,648 (GRCm39) missense possibly damaging 0.70
R7485:Igsf21 UTSW 4 139,755,049 (GRCm39) missense probably benign 0.09
R7880:Igsf21 UTSW 4 139,884,819 (GRCm39) missense probably damaging 1.00
R7934:Igsf21 UTSW 4 139,761,755 (GRCm39) missense possibly damaging 0.83
R8175:Igsf21 UTSW 4 139,755,542 (GRCm39) missense probably damaging 1.00
R9035:Igsf21 UTSW 4 139,884,782 (GRCm39) missense probably damaging 1.00
R9190:Igsf21 UTSW 4 139,756,028 (GRCm39) missense probably damaging 1.00
R9197:Igsf21 UTSW 4 139,762,084 (GRCm39) missense probably benign 0.01
R9325:Igsf21 UTSW 4 139,794,466 (GRCm39) missense probably damaging 0.98
R9398:Igsf21 UTSW 4 139,973,762 (GRCm39) start gained probably benign
R9556:Igsf21 UTSW 4 139,762,014 (GRCm39) missense probably damaging 1.00
R9777:Igsf21 UTSW 4 139,755,407 (GRCm39) missense probably damaging 1.00
Z1176:Igsf21 UTSW 4 139,794,526 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAACAATGGGATGGTACGACC -3'
(R):5'- AATGAGGTCTTCCCAGAACCC -3'

Sequencing Primer
(F):5'- TGGTACGACCATGTTACAAATAGG -3'
(R):5'- CATGTTCACGTGGACGAGAG -3'
Posted On 2016-06-21