Incidental Mutation 'IGL01470:Nlrp4c'
ID278511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4c
Ensembl Gene ENSMUSG00000034690
Gene NameNLR family, pyrin domain containing 4C
SynonymsNalp-alpha, Rnh2, Nalp4c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01470
Quality Score
Status
Chromosome7
Chromosomal Location6045161-6105150 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6100784 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 906 (C906R)
Ref Sequence ENSEMBL: ENSMUSP00000146613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037728] [ENSMUST00000121583] [ENSMUST00000208360]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037728
AA Change: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: C906R

DomainStartEndE-ValueType
PYRIN 6 89 1.41e-34 SMART
Pfam:NACHT 148 317 4.5e-40 PFAM
LRR 689 716 2.91e0 SMART
LRR 718 745 1.49e1 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 6.24e1 SMART
LRR 802 829 3.07e-1 SMART
LRR 831 858 4.11e-1 SMART
LRR 859 886 3.31e-6 SMART
LRR 888 915 6.16e0 SMART
LRR 916 943 9.24e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121583
AA Change: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: C906R

DomainStartEndE-ValueType
PYRIN 6 89 1.41e-34 SMART
Pfam:NACHT 148 317 1.7e-39 PFAM
LRR 689 716 2.91e0 SMART
LRR 718 745 1.49e1 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 6.24e1 SMART
LRR 802 829 3.07e-1 SMART
LRR 831 858 4.11e-1 SMART
LRR 859 886 3.31e-6 SMART
LRR 888 915 6.16e0 SMART
LRR 916 943 9.24e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000208360
AA Change: C906R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,457 T1184A possibly damaging Het
A2ml1 A G 6: 128,580,412 I106T probably damaging Het
Asic4 C T 1: 75,450,866 A12V probably damaging Het
Cacna1d A T 14: 30,099,142 V1139D probably damaging Het
Edc4 T C 8: 105,889,981 probably benign Het
Eif4h A T 5: 134,625,539 probably null Het
Exog C A 9: 119,462,526 Q290K probably damaging Het
Fam83c A T 2: 155,834,808 I14K possibly damaging Het
Fes A T 7: 80,383,273 Y268N probably benign Het
Fhod1 A G 8: 105,329,649 L1144P probably damaging Het
Frem3 C T 8: 80,614,315 T1079I probably damaging Het
Gbp10 A G 5: 105,221,114 probably benign Het
Herc1 T C 9: 66,497,636 V4496A possibly damaging Het
Lamb1 A G 12: 31,300,262 R729G possibly damaging Het
Lifr T A 15: 7,175,666 C461* probably null Het
Lypd6 T C 2: 50,188,783 V97A probably benign Het
Map3k5 A G 10: 20,118,187 E973G possibly damaging Het
Mep1b A T 18: 21,097,467 N692I probably benign Het
Mrpl15 A G 1: 4,776,531 V274A probably damaging Het
Naaa A G 5: 92,263,648 I264T probably damaging Het
Olfr1047 T C 2: 86,228,284 N229S probably benign Het
Olfr1265 T C 2: 90,037,818 W300R possibly damaging Het
Olfr1443 T C 19: 12,680,671 S188P possibly damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr885 A T 9: 38,062,004 H228L possibly damaging Het
Phc2 C T 4: 128,723,110 T392I probably benign Het
Ptprg G A 14: 12,213,702 W248* probably null Het
Pzp T A 6: 128,521,124 E243D probably benign Het
Rbm33 T A 5: 28,387,848 L542Q probably damaging Het
Recql4 G A 15: 76,708,944 T229I probably benign Het
Ssbp3 T C 4: 107,037,658 probably benign Het
Tfap2d A T 1: 19,148,396 Q373L probably damaging Het
Timmdc1 A G 16: 38,518,540 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vps13c T C 9: 67,912,927 probably benign Het
Zfp551 A G 7: 12,418,541 probably null Het
Other mutations in Nlrp4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Nlrp4c APN 7 6066702 missense possibly damaging 0.80
IGL01458:Nlrp4c APN 7 6100784 missense possibly damaging 0.94
IGL01464:Nlrp4c APN 7 6100784 missense possibly damaging 0.94
IGL01481:Nlrp4c APN 7 6100784 missense possibly damaging 0.94
IGL01531:Nlrp4c APN 7 6060656 missense probably damaging 1.00
IGL01595:Nlrp4c APN 7 6066112 nonsense probably null
IGL02087:Nlrp4c APN 7 6092583 missense probably damaging 1.00
IGL02226:Nlrp4c APN 7 6066829 missense possibly damaging 0.78
IGL02588:Nlrp4c APN 7 6084648 missense probably benign 0.25
IGL02822:Nlrp4c APN 7 6065727 missense probably damaging 1.00
IGL02884:Nlrp4c APN 7 6098952 missense probably damaging 1.00
IGL02943:Nlrp4c APN 7 6065975 missense probably damaging 0.96
IGL03017:Nlrp4c APN 7 6084680 missense probably benign 0.23
R0347:Nlrp4c UTSW 7 6066416 missense possibly damaging 0.69
R0579:Nlrp4c UTSW 7 6060845 missense probably benign 0.05
R1051:Nlrp4c UTSW 7 6065943 missense probably benign 0.01
R1596:Nlrp4c UTSW 7 6066778 missense probably benign
R1636:Nlrp4c UTSW 7 6066738 missense possibly damaging 0.64
R1739:Nlrp4c UTSW 7 6073222 missense probably damaging 1.00
R1766:Nlrp4c UTSW 7 6073114 missense probably benign 0.00
R1824:Nlrp4c UTSW 7 6066956 splice site probably null
R1827:Nlrp4c UTSW 7 6065766 missense probably damaging 1.00
R1858:Nlrp4c UTSW 7 6084656 missense probably benign 0.02
R1902:Nlrp4c UTSW 7 6065819 missense probably damaging 0.98
R2217:Nlrp4c UTSW 7 6073114 missense probably benign
R2415:Nlrp4c UTSW 7 6066048 missense probably damaging 1.00
R3004:Nlrp4c UTSW 7 6065525 missense probably benign 0.28
R3005:Nlrp4c UTSW 7 6065525 missense probably benign 0.28
R3410:Nlrp4c UTSW 7 6092570 missense possibly damaging 0.69
R3411:Nlrp4c UTSW 7 6092570 missense possibly damaging 0.69
R3710:Nlrp4c UTSW 7 6065628 missense probably damaging 0.99
R4072:Nlrp4c UTSW 7 6072710 missense probably benign 0.00
R4073:Nlrp4c UTSW 7 6072710 missense probably benign 0.00
R4075:Nlrp4c UTSW 7 6072710 missense probably benign 0.00
R4076:Nlrp4c UTSW 7 6072710 missense probably benign 0.00
R4542:Nlrp4c UTSW 7 6100827 nonsense probably null
R4709:Nlrp4c UTSW 7 6065425 missense probably benign 0.31
R4776:Nlrp4c UTSW 7 6066126 missense probably benign 0.41
R5043:Nlrp4c UTSW 7 6066825 missense probably benign 0.01
R5258:Nlrp4c UTSW 7 6066623 missense probably benign 0.06
R6164:Nlrp4c UTSW 7 6092508 missense probably damaging 1.00
R6383:Nlrp4c UTSW 7 6066053 missense probably benign
R6650:Nlrp4c UTSW 7 6065949 missense probably damaging 0.99
R6810:Nlrp4c UTSW 7 6066755 missense probably damaging 1.00
R7095:Nlrp4c UTSW 7 6060793 missense probably damaging 0.97
R7102:Nlrp4c UTSW 7 6065709 nonsense probably null
R7104:Nlrp4c UTSW 7 6065709 nonsense probably null
X0060:Nlrp4c UTSW 7 6065918 missense probably damaging 1.00
Z1088:Nlrp4c UTSW 7 6066636 missense probably damaging 1.00
Posted On2015-04-16