Incidental Mutation 'IGL02523:Igsf8'
ID 296968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf8
Ensembl Gene ENSMUSG00000038034
Gene Name immunoglobulin superfamily, member 8
Synonyms PGRL, KCT-4, ESTM34, EWI-2, PG regulatory-like protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02523
Quality Score
Status
Chromosome 1
Chromosomal Location 172261641-172319841 bp(+) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 172319413 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039506] [ENSMUST00000062387] [ENSMUST00000085912] [ENSMUST00000128508] [ENSMUST00000139528] [ENSMUST00000194204] [ENSMUST00000195659]
AlphaFold no structure available at present
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: ENSMUST00000062387
SMART Domains Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:IRK 25 350 3.1e-142 PFAM
low complexity region 362 377 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192957
Predicted Effect probably benign
Transcript: ENSMUST00000194204
SMART Domains Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:IRK 25 361 7.4e-165 PFAM
low complexity region 362 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194505
Predicted Effect probably benign
Transcript: ENSMUST00000195659
SMART Domains Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
Blast:IG 1 67 2e-42 BLAST
SCOP:d1nkr_1 6 64 1e-3 SMART
transmembrane domain 74 96 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Csl G A 10: 99,758,813 T130I probably benign Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr214 A T 6: 116,557,093 I223L probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Ralbp1 T C 17: 65,859,091 E366G probably damaging Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Ufsp2 T A 8: 45,983,548 M112K probably damaging Het
Wipi2 T A 5: 142,661,032 V208E probably damaging Het
Xkr9 A G 1: 13,684,250 E156G probably benign 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
IGL03092:Igsf8 APN 1 172312529 intron 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
R9515:Igsf8 UTSW 1 172318958 missense
R9667:Igsf8 UTSW 1 172317752 missense possibly damaging 0.95
Z1176:Igsf8 UTSW 1 172318354 missense probably damaging 1.00
Posted On 2015-04-16