Incidental Mutation 'R4458:Clec18a'
ID330016
Institutional Source Beutler Lab
Gene Symbol Clec18a
Ensembl Gene ENSMUSG00000033633
Gene NameC-type lectin domain family 18, member A
SynonymsMrcl
MMRRC Submission 041718-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #R4458 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location111058920-111092426 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111075470 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 296 (T296S)
Ref Sequence ENSEMBL: ENSMUSP00000139515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039597] [ENSMUST00000186384] [ENSMUST00000188466] [ENSMUST00000190222] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469]
Predicted Effect probably damaging
Transcript: ENSMUST00000039597
AA Change: T296S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: T296S

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 possibly damaging
Transcript: ENSMUST00000188466
AA Change: T235S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: T235S

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 damaging
Transcript: ENSMUST00000190222
AA Change: T235S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: T235S

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 possibly damaging
Transcript: ENSMUST00000191030
AA Change: T266S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: T266S

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: T296S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: T296S

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik G A 3: 107,232,681 probably null Het
Akap13 A G 7: 75,739,465 D2377G probably damaging Het
Ankrd44 A T 1: 54,762,391 I56N possibly damaging Het
Apob T A 12: 8,015,445 I4105N probably damaging Het
Arhgap5 T A 12: 52,517,957 N570K probably benign Het
Arid1b A T 17: 5,242,916 Q703L probably damaging Het
Atp4a G A 7: 30,720,225 R671Q probably benign Het
Cad T A 5: 31,061,226 V499D probably damaging Het
Cdkn2d C G 9: 21,290,889 V21L probably benign Het
Celsr2 A C 3: 108,394,997 I2605S probably damaging Het
Chd6 T A 2: 161,029,876 Y213F possibly damaging Het
Crybg2 C T 4: 134,074,894 P1122S probably benign Het
Cyld G T 8: 88,719,301 S309I probably benign Het
Dctn5 G T 7: 122,135,080 R49L probably damaging Het
Egr2 GAA GA 10: 67,539,903 probably null Het
Erbin C A 13: 103,833,557 V1184F probably damaging Het
Ercc2 G T 7: 19,393,846 R406L probably damaging Het
Eya1 C T 1: 14,183,196 V519M probably damaging Het
Fam46a T C 9: 85,326,474 I99V possibly damaging Het
Flad1 T C 3: 89,408,934 H107R probably benign Het
Fsip2 G T 2: 82,990,776 A5618S possibly damaging Het
Gabbr1 G T 17: 37,067,775 probably null Het
Haghl A T 17: 25,785,020 V30E probably damaging Het
Itga5 C T 15: 103,350,203 E822K probably damaging Het
Klhl26 T A 8: 70,452,692 E108D possibly damaging Het
Kpnb1 A T 11: 97,169,170 L558Q probably damaging Het
Lias T C 5: 65,394,040 probably null Het
Ltbp1 A T 17: 75,276,507 K434M possibly damaging Het
March1 C A 8: 66,456,171 A177E probably damaging Het
Naip2 T A 13: 100,154,911 H1173L probably benign Het
Nol4 T C 18: 22,751,995 I419V probably damaging Het
Nol6 A G 4: 41,115,888 L1068P probably damaging Het
Nrcam T C 12: 44,559,730 S420P probably damaging Het
Olfr95 A T 17: 37,211,313 I180N possibly damaging Het
Pitpnm2 T C 5: 124,121,376 T1299A probably benign Het
Prdm16 A G 4: 154,322,308 V1220A probably benign Het
Saraf T C 8: 34,154,716 S25P unknown Het
Serpine3 C A 14: 62,674,473 L295I probably damaging Het
Sntb2 G A 8: 106,991,607 probably null Het
Surf6 T C 2: 26,892,709 E202G probably benign Het
Th A T 7: 142,896,953 D135E probably benign Het
Traf1 A G 2: 34,945,433 Y326H probably damaging Het
Tshz2 G A 2: 169,885,088 A66T probably benign Het
Ttn T C 2: 76,946,913 M1382V probably benign Het
Ubqlnl A G 7: 104,149,189 V367A probably benign Het
Uspl1 T A 5: 149,214,152 S707T possibly damaging Het
Utp18 A G 11: 93,870,533 S350P possibly damaging Het
Vmn1r177 A G 7: 23,866,220 V77A possibly damaging Het
Vmn1r229 A G 17: 20,814,632 I46M probably damaging Het
Vnn3 T C 10: 23,865,669 Y291H probably benign Het
Vps9d1 A G 8: 123,247,748 S267P probably benign Het
Wrn T A 8: 33,294,998 T692S probably damaging Het
Yeats2 T C 16: 20,213,321 I19T probably damaging Het
Zfp13 G A 17: 23,581,176 A36V probably benign Het
Other mutations in Clec18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Clec18a APN 8 111071613 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGGTGATTCTGAGAAGGGGCC -3'
(R):5'- AGGTGCTAAGGTGACCCATGAG -3'

Sequencing Primer
(F):5'- CTCCTTCCAGCCAGTCAGG -3'
(R):5'- AGGGAGCCAGGAGCCATTC -3'
Posted On2015-07-21