Incidental Mutation 'IGL01090:Clec4g'
ID 51747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec4g
Ensembl Gene ENSMUSG00000074491
Gene Name C-type lectin domain family 4, member g
Synonyms 4930572L20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01090
Quality Score
Status
Chromosome 8
Chromosomal Location 3707064-3720651 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3719482 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000059574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058040] [ENSMUST00000062037]
AlphaFold Q8BNX1
Predicted Effect probably benign
Transcript: ENSMUST00000058040
Predicted Effect probably damaging
Transcript: ENSMUST00000062037
AA Change: S54P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059574
Gene: ENSMUSG00000074491
AA Change: S54P

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
coiled coil region 98 153 N/A INTRINSIC
CLECT 165 288 8.85e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160490
Predicted Effect probably benign
Transcript: ENSMUST00000160527
SMART Domains Protein: ENSMUSP00000124493
Gene: ENSMUSG00000074491

DomainStartEndE-ValueType
CLECT 2 97 7.75e-8 SMART
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 glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased intrahepatic T cell immunity, enhanced immune-mediated liver injury during Con A-induced experimental acute hepatitis, and accelerated CTL-dependent adenovirus clearance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,919,118 S316P possibly damaging Het
Actn1 A T 12: 80,199,072 probably null Het
Agbl3 T C 6: 34,799,887 Y443H probably benign Het
Akap13 T A 7: 75,666,531 D578E probably benign Het
Aldoa A T 7: 126,796,035 H292Q probably benign Het
Als2 T C 1: 59,215,616 K194R possibly damaging Het
Bivm C A 1: 44,129,291 H244N probably damaging Het
Cabp5 G A 7: 13,405,487 E146K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clcn4 A G 7: 7,294,036 V129A probably benign Het
Crim1 G T 17: 78,347,229 V645L probably damaging Het
Csta1 T C 16: 36,125,051 T31A probably damaging Het
D930048N14Rik T C 11: 51,653,783 probably benign Het
Dhx34 G T 7: 16,216,256 P329Q probably damaging Het
Dusp16 T C 6: 134,725,949 N193S probably benign Het
Fbn1 A G 2: 125,394,776 probably benign Het
Fbxo46 A G 7: 19,136,803 Y449C probably damaging Het
Fmo4 C A 1: 162,809,785 probably null Het
Foxi3 C A 6: 70,960,745 N320K probably damaging Het
Gm9964 A G 11: 79,296,384 L79P unknown Het
Gpr161 T C 1: 165,306,580 I137T probably damaging Het
Herc1 C T 9: 66,469,175 Q3426* probably null Het
Hps5 C T 7: 46,788,327 R108H probably benign Het
Itch T A 2: 155,206,336 V540E probably damaging Het
L3mbtl1 C A 2: 162,966,005 P520H probably damaging Het
Mvp A G 7: 126,989,687 V636A probably benign Het
Odf4 A G 11: 68,921,952 probably benign Het
Olfr830 A G 9: 18,876,242 K305R probably benign Het
Pld1 T C 3: 28,088,667 S675P probably benign Het
Plod3 A G 5: 136,990,236 D325G probably benign Het
Prss12 T C 3: 123,482,739 V339A possibly damaging Het
Ptpn13 T A 5: 103,541,314 L991Q probably null Het
Ptpn3 T A 4: 57,240,833 I261F probably damaging Het
Rab3gap1 T C 1: 127,930,387 probably benign Het
Rasa4 A G 5: 136,101,993 R373G possibly damaging Het
Rmi1 T C 13: 58,409,394 S486P probably damaging Het
Slc25a23 A G 17: 57,047,233 I139T probably benign Het
Sspo T A 6: 48,490,125 S4017T probably benign Het
Tcaf1 C A 6: 42,686,622 C108F probably benign Het
Tnc T C 4: 64,000,080 Q1198R probably damaging Het
Tnni3k G T 3: 154,939,683 Q522K possibly damaging Het
Trio T A 15: 27,773,007 E713V probably damaging Het
Ugt2b34 C A 5: 86,893,820 V338F probably damaging Het
Usp40 T A 1: 87,962,465 M892L probably benign Het
Usp54 A T 14: 20,586,157 probably benign Het
Vmn2r53 T C 7: 12,600,908 E275G possibly damaging Het
Vmn2r87 A G 10: 130,497,378 M1T probably null Het
Wdr66 A C 5: 123,279,989 probably benign Het
Wdr83os A T 8: 85,081,847 D76V probably damaging Het
Other mutations in Clec4g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Clec4g APN 8 3716410 intron probably benign
IGL01331:Clec4g APN 8 3717190 splice site probably benign
IGL01593:Clec4g APN 8 3719474 critical splice donor site probably null
IGL02942:Clec4g APN 8 3718356 missense probably damaging 0.96
IGL03176:Clec4g APN 8 3718441 missense possibly damaging 0.90
bluedog UTSW 8 3718766 critical splice donor site probably null
R0071:Clec4g UTSW 8 3717489 start gained probably benign
R0379:Clec4g UTSW 8 3718440 missense probably benign 0.00
R4571:Clec4g UTSW 8 3718766 critical splice donor site probably null
R4854:Clec4g UTSW 8 3716534 missense probably damaging 1.00
R4856:Clec4g UTSW 8 3716419 intron probably benign
R4886:Clec4g UTSW 8 3716419 intron probably benign
R5370:Clec4g UTSW 8 3718344 missense probably benign 0.13
R5390:Clec4g UTSW 8 3718441 missense probably benign 0.02
R6522:Clec4g UTSW 8 3718803 missense probably benign 0.11
R6737:Clec4g UTSW 8 3707716 utr 3 prime probably benign
R7097:Clec4g UTSW 8 3719518 missense possibly damaging 0.58
R7834:Clec4g UTSW 8 3716500 missense probably damaging 1.00
R8372:Clec4g UTSW 8 3707990 utr 3 prime probably benign
R9297:Clec4g UTSW 8 3716500 missense probably damaging 1.00
R9312:Clec4g UTSW 8 3718371 missense probably null 1.00
R9318:Clec4g UTSW 8 3716500 missense probably damaging 1.00
Z1088:Clec4g UTSW 8 3707796 utr 3 prime probably benign
Z1088:Clec4g UTSW 8 3716548 missense probably damaging 1.00
Posted On 2013-06-21