Incidental Mutation 'IGL03092:Igsf8'
ID418437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf8
Ensembl Gene ENSMUSG00000038034
Gene Nameimmunoglobulin superfamily, member 8
SynonymsPGRL, KCT-4, ESTM34, EWI-2, PG regulatory-like protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03092
Quality Score
Status
Chromosome1
Chromosomal Location172261641-172319841 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 172312529 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039506] [ENSMUST00000085912] [ENSMUST00000128508] [ENSMUST00000139528]
Predicted Effect probably benign
Transcript: ENSMUST00000039506
SMART Domains Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 32 147 1.38e-6 SMART
low complexity region 155 166 N/A INTRINSIC
IG 169 285 2.3e-3 SMART
IG 309 433 9.49e-5 SMART
IG 445 571 3.59e-5 SMART
transmembrane domain 578 600 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085912
SMART Domains Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
IG 32 147 1.38e-6 SMART
low complexity region 155 166 N/A INTRINSIC
IG 169 285 2.3e-3 SMART
IG 309 433 9.49e-5 SMART
IG 445 571 3.59e-5 SMART
transmembrane domain 578 600 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128508
SMART Domains Protein: ENSMUSP00000122611
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
IG 32 147 1.38e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139528
SMART Domains Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
IG_like 19 84 3.66e1 SMART
low complexity region 92 103 N/A INTRINSIC
IG 106 222 2.3e-3 SMART
IG 246 370 9.49e-5 SMART
IG 382 508 3.59e-5 SMART
transmembrane domain 515 537 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
BC024978 T C 7: 27,201,136 M180T probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Ctsg T A 14: 56,099,960 *262L probably null Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Dcun1d1 G T 3: 35,920,992 Q52K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Hmgb1 A T 5: 149,050,698 S14T probably benign Het
Klf13 A G 7: 63,891,669 F237L probably damaging Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in Igsf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Igsf8 APN 1 172317544 missense possibly damaging 0.48
IGL02090:Igsf8 APN 1 172312589 intron probably benign
IGL02523:Igsf8 APN 1 172319413 utr 3 prime probably benign
IGL03184:Igsf8 APN 1 172318632 missense probably damaging 0.96
R0398:Igsf8 UTSW 1 172317499 missense probably damaging 1.00
R0468:Igsf8 UTSW 1 172318796 missense probably damaging 1.00
R0494:Igsf8 UTSW 1 172318698 missense probably benign 0.06
R0612:Igsf8 UTSW 1 172319407 makesense probably null
R0613:Igsf8 UTSW 1 172317589 missense probably benign 0.00
R0883:Igsf8 UTSW 1 172316259 missense possibly damaging 0.67
R0941:Igsf8 UTSW 1 172316396 missense probably damaging 1.00
R1689:Igsf8 UTSW 1 172318937 missense probably damaging 0.99
R1706:Igsf8 UTSW 1 172317405 missense probably damaging 1.00
R2050:Igsf8 UTSW 1 172318865 missense probably damaging 1.00
R2182:Igsf8 UTSW 1 172290728 critical splice donor site probably null
R3625:Igsf8 UTSW 1 172317769 missense probably benign 0.18
R3833:Igsf8 UTSW 1 172318270 missense probably benign 0.00
R4674:Igsf8 UTSW 1 172318912 nonsense probably null
R4796:Igsf8 UTSW 1 172316322 missense probably benign 0.07
R6768:Igsf8 UTSW 1 172317532 missense probably damaging 1.00
R7519:Igsf8 UTSW 1 172316307 missense probably benign 0.38
Posted On2016-08-02