Incidental Mutation 'IGL01348:Clec18a'
ID75155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec18a
Ensembl Gene ENSMUSG00000033633
Gene NameC-type lectin domain family 18, member A
SynonymsMrcl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL01348
Quality Score
Status
Chromosome8
Chromosomal Location111058920-111092426 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 111071613 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 423 (A423V)
Ref Sequence ENSEMBL: ENSMUSP00000141073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039597] [ENSMUST00000186384] [ENSMUST00000188466] [ENSMUST00000190222] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469]
Predicted Effect probably damaging
Transcript: ENSMUST00000039597
AA Change: A484V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: A484V

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186384
Predicted Effect probably damaging
Transcript: ENSMUST00000188466
AA Change: A423V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: A423V

DomainStartEndE-ValueType
signal peptide 1 53 N/A INTRINSIC
SCP 69 217 2.8e-21 SMART
EGF 251 288 2.6e-3 SMART
EGF_like 290 319 2.4e-1 SMART
CLECT 324 460 2.3e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190222
SMART Domains Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
signal peptide 1 53 N/A INTRINSIC
SCP 69 217 2.8e-21 SMART
EGF 251 288 2.6e-3 SMART
EGF_like 290 319 2.4e-1 SMART
Pfam:Lectin_C 343 418 1.7e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190778
SMART Domains Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191030
AA Change: A454V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: A454V

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
SCP 100 248 5.76e-19 SMART
EGF 282 319 5.32e-1 SMART
EGF_like 321 350 4.83e1 SMART
CLECT 355 491 4.65e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191469
AA Change: A484V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: A484V

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,213 E140G probably null Het
8030462N17Rik A G 18: 77,673,917 I233T possibly damaging Het
Adgrl3 A G 5: 81,726,723 T956A probably damaging Het
Aff4 G A 11: 53,402,500 S772N probably benign Het
Atad5 A G 11: 80,095,564 I492M probably benign Het
Atf4 T C 15: 80,256,527 probably benign Het
Atrip A G 9: 109,069,295 S219P probably damaging Het
Axl G A 7: 25,763,309 R656W probably damaging Het
B3gnt3 T A 8: 71,693,004 Q240L possibly damaging Het
Baz2b A G 2: 59,933,687 V915A possibly damaging Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Cacna1s T C 1: 136,075,152 V329A possibly damaging Het
Celf3 C A 3: 94,488,228 Q388K possibly damaging Het
Ciita T C 16: 10,510,727 S292P probably damaging Het
Clnk T C 5: 38,713,207 D336G probably damaging Het
Csmd1 T G 8: 15,910,596 H3273P probably damaging Het
Cyp3a11 A T 5: 145,869,007 V157E possibly damaging Het
Dcp1b T C 6: 119,183,718 I87T probably damaging Het
Ell3 A G 2: 121,441,796 S66P probably damaging Het
Ercc4 T C 16: 13,132,934 F631L probably damaging Het
Etl4 T A 2: 20,806,973 V1289D probably damaging Het
Gm16372 T C 12: 24,493,607 probably benign Het
Gm4553 C T 7: 142,165,172 C173Y unknown Het
Gm8989 T A 7: 106,329,835 H285L unknown Het
Gykl1 A T 18: 52,694,736 I339F possibly damaging Het
H60b A C 10: 22,286,179 N101T possibly damaging Het
Inpp4a C T 1: 37,388,905 T407I probably damaging Het
Itga11 A G 9: 62,744,579 N331S possibly damaging Het
Kbtbd6 T A 14: 79,453,343 C430S probably damaging Het
Mfsd4a T C 1: 132,067,826 S1G probably null Het
Mybpc2 C A 7: 44,515,928 M372I probably benign Het
Myh10 A T 11: 68,811,803 T1768S probably benign Het
Myh8 A G 11: 67,297,780 K1063E probably damaging Het
Nat8f5 A T 6: 85,817,880 F33I probably damaging Het
Nbeal2 T G 9: 110,629,146 N2119T probably damaging Het
Nek11 C T 9: 105,392,913 G37S probably damaging Het
Npc1l1 T C 11: 6,227,974 N479D probably damaging Het
Nup160 A G 2: 90,700,428 T477A probably benign Het
Olfr121 A T 17: 37,752,286 H144L probably benign Het
Olfr186 T A 16: 59,027,794 T38S probably damaging Het
Pcgf2 A G 11: 97,690,240 V259A probably benign Het
Pmm1 A G 15: 81,952,018 V131A probably damaging Het
Polr3a A T 14: 24,461,763 D908E probably damaging Het
Psg29 A C 7: 17,210,673 R369S probably benign Het
Ptprq T A 10: 107,711,904 D211V probably damaging Het
Rdh9 A G 10: 127,776,792 N103S probably benign Het
Riok3 T C 18: 12,152,963 probably benign Het
Serpinb1b A T 13: 33,091,415 Q174H probably benign Het
Sgip1 G T 4: 102,915,156 probably null Het
Sgpp1 A T 12: 75,734,993 Y191N probably damaging Het
Slc12a1 A G 2: 125,194,131 N641S probably damaging Het
Slc5a4b T C 10: 76,070,588 N399S probably damaging Het
Snx16 C T 3: 10,419,159 A335T probably damaging Het
Sos2 C T 12: 69,618,092 R355H probably damaging Het
Szt2 A G 4: 118,393,624 probably benign Het
Tbcd T A 11: 121,497,076 D344E probably benign Het
Tek C A 4: 94,859,658 Q988K probably damaging Het
Tgm6 A G 2: 130,137,379 D143G probably damaging Het
Tpx2 A G 2: 152,893,591 K713R probably damaging Het
Trappc9 T A 15: 72,937,009 E556V possibly damaging Het
Trpm6 A T 19: 18,877,651 K1891N probably damaging Het
Trpv1 G A 11: 73,238,252 probably null Het
Usp37 T C 1: 74,461,702 S567G probably damaging Het
Zfp773 A T 7: 7,135,315 V107D possibly damaging Het
Other mutations in Clec18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
LCD18:Clec18a UTSW 8 111076136 splice site probably benign
R1251:Clec18a UTSW 8 111081638 missense possibly damaging 0.46
R1528:Clec18a UTSW 8 111078866 missense probably benign 0.00
R1994:Clec18a UTSW 8 111081602 missense possibly damaging 0.90
R2283:Clec18a UTSW 8 111075508 missense probably benign 0.33
R4458:Clec18a UTSW 8 111075470 missense probably damaging 1.00
R4790:Clec18a UTSW 8 111072085 missense probably damaging 1.00
R5249:Clec18a UTSW 8 111073736 missense probably damaging 1.00
R5848:Clec18a UTSW 8 111075461 missense probably benign 0.24
R5862:Clec18a UTSW 8 111081558 missense possibly damaging 0.46
R6052:Clec18a UTSW 8 111078816 nonsense probably null
R6361:Clec18a UTSW 8 111081029 intron probably benign
R6786:Clec18a UTSW 8 111080940 missense probably benign 0.00
R7220:Clec18a UTSW 8 111081572 missense probably benign 0.00
R8074:Clec18a UTSW 8 111071598 missense probably damaging 0.99
R8157:Clec18a UTSW 8 111072051 missense probably damaging 1.00
R8170:Clec18a UTSW 8 111080919 missense probably damaging 0.98
R8309:Clec18a UTSW 8 111082057 missense probably benign 0.08
Posted On2013-10-07