Incidental Mutation 'IGL00704:Nlrp4e'
ID 12388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4e
Ensembl Gene ENSMUSG00000045693
Gene Name NLR family, pyrin domain containing 4E
Synonyms 4930406H16Rik, Nalp4e, Nalp-epsilon
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00704
Quality Score
Status
Chromosome 7
Chromosomal Location 23000617-23061702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23042565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 817 (D817V)
Ref Sequence ENSEMBL: ENSMUSP00000075794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076470]
AlphaFold Q66X19
Predicted Effect probably damaging
Transcript: ENSMUST00000076470
AA Change: D817V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: D817V

DomainStartEndE-ValueType
PYRIN 6 89 1.43e-35 SMART
Pfam:NACHT 148 317 1.3e-39 PFAM
LRR 689 716 1.87e1 SMART
LRR 718 745 7.74e0 SMART
LRR 746 772 2.5e1 SMART
LRR 774 801 2.67e1 SMART
LRR 802 829 6.48e-1 SMART
LRR 831 858 2.03e0 SMART
LRR 859 886 2.88e-6 SMART
LRR 888 915 9.41e0 SMART
LRR 916 943 1.02e2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,736,257 (GRCm39) I217F probably benign Het
Agfg1 C T 1: 82,836,124 (GRCm39) T3I probably damaging Het
Anapc1 A T 2: 128,505,904 (GRCm39) V644E possibly damaging Het
Casd1 A T 6: 4,607,979 (GRCm39) probably benign Het
Chd1 T C 17: 15,952,827 (GRCm39) V369A probably benign Het
Cul2 T C 18: 3,423,487 (GRCm39) V299A probably benign Het
Helz2 A G 2: 180,876,178 (GRCm39) C1439R probably damaging Het
Mfsd11 T C 11: 116,749,322 (GRCm39) F59L probably benign Het
Phf3 C T 1: 30,843,919 (GRCm39) G1680D probably benign Het
Pip4k2a G T 2: 18,877,147 (GRCm39) T196K probably benign Het
Plxna2 T A 1: 194,433,769 (GRCm39) V606E probably damaging Het
Slc4a2 A C 5: 24,644,066 (GRCm39) I931L probably damaging Het
Stk32a T C 18: 43,394,314 (GRCm39) Y88H probably damaging Het
Uba2 T C 7: 33,858,294 (GRCm39) N54S probably damaging Het
Other mutations in Nlrp4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nlrp4e APN 7 23,039,896 (GRCm39) missense probably benign 0.00
IGL01017:Nlrp4e APN 7 23,021,092 (GRCm39) missense possibly damaging 0.93
IGL01025:Nlrp4e APN 7 23,052,586 (GRCm39) splice site probably benign
IGL01815:Nlrp4e APN 7 23,020,863 (GRCm39) missense probably benign 0.02
IGL01924:Nlrp4e APN 7 23,020,255 (GRCm39) nonsense probably null
IGL02245:Nlrp4e APN 7 23,020,300 (GRCm39) missense probably damaging 1.00
IGL02745:Nlrp4e APN 7 23,020,716 (GRCm39) missense probably damaging 1.00
IGL02746:Nlrp4e APN 7 23,021,264 (GRCm39) missense probably benign 0.00
IGL02987:Nlrp4e APN 7 23,000,858 (GRCm39) missense probably damaging 1.00
IGL02997:Nlrp4e APN 7 23,000,799 (GRCm39) missense probably benign 0.04
IGL03193:Nlrp4e APN 7 23,020,251 (GRCm39) missense probably damaging 1.00
IGL03304:Nlrp4e APN 7 23,052,768 (GRCm39) critical splice donor site probably null
IGL03352:Nlrp4e APN 7 23,020,251 (GRCm39) missense probably damaging 1.00
R0389:Nlrp4e UTSW 7 23,054,628 (GRCm39) missense probably damaging 0.98
R1028:Nlrp4e UTSW 7 23,021,169 (GRCm39) missense probably damaging 1.00
R1163:Nlrp4e UTSW 7 23,020,397 (GRCm39) missense probably benign 0.03
R1269:Nlrp4e UTSW 7 23,052,763 (GRCm39) missense possibly damaging 0.95
R1400:Nlrp4e UTSW 7 23,021,085 (GRCm39) missense possibly damaging 0.93
R1497:Nlrp4e UTSW 7 23,019,797 (GRCm39) missense probably benign 0.00
R1518:Nlrp4e UTSW 7 23,021,268 (GRCm39) missense probably benign 0.33
R1716:Nlrp4e UTSW 7 23,020,458 (GRCm39) missense possibly damaging 0.56
R1727:Nlrp4e UTSW 7 23,020,420 (GRCm39) missense probably benign 0.01
R1998:Nlrp4e UTSW 7 23,020,671 (GRCm39) missense probably benign 0.00
R2177:Nlrp4e UTSW 7 23,054,686 (GRCm39) missense probably benign 0.00
R3724:Nlrp4e UTSW 7 23,020,802 (GRCm39) missense probably benign 0.28
R3767:Nlrp4e UTSW 7 23,039,988 (GRCm39) missense probably damaging 1.00
R3795:Nlrp4e UTSW 7 23,020,228 (GRCm39) missense probably benign 0.35
R4387:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4387:Nlrp4e UTSW 7 23,000,902 (GRCm39) missense probably benign 0.00
R4388:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4388:Nlrp4e UTSW 7 23,000,902 (GRCm39) missense probably benign 0.00
R4389:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4403:Nlrp4e UTSW 7 23,020,888 (GRCm39) nonsense probably null
R4444:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4486:Nlrp4e UTSW 7 23,020,652 (GRCm39) missense probably benign 0.01
R4547:Nlrp4e UTSW 7 23,036,291 (GRCm39) missense probably benign 0.00
R4553:Nlrp4e UTSW 7 23,020,404 (GRCm39) missense probably benign
R4666:Nlrp4e UTSW 7 23,036,205 (GRCm39) nonsense probably null
R4721:Nlrp4e UTSW 7 23,020,521 (GRCm39) missense possibly damaging 0.84
R4728:Nlrp4e UTSW 7 23,020,989 (GRCm39) missense probably benign
R4758:Nlrp4e UTSW 7 23,020,043 (GRCm39) missense probably benign 0.17
R4775:Nlrp4e UTSW 7 23,042,525 (GRCm39) missense probably benign 0.14
R4830:Nlrp4e UTSW 7 23,036,165 (GRCm39) missense probably benign 0.03
R4954:Nlrp4e UTSW 7 23,061,318 (GRCm39) nonsense probably null
R5277:Nlrp4e UTSW 7 23,020,863 (GRCm39) missense probably benign 0.02
R5352:Nlrp4e UTSW 7 23,052,598 (GRCm39) missense probably benign 0.26
R5521:Nlrp4e UTSW 7 23,021,190 (GRCm39) missense probably benign 0.00
R5528:Nlrp4e UTSW 7 23,036,316 (GRCm39) missense probably benign 0.07
R5537:Nlrp4e UTSW 7 23,019,914 (GRCm39) missense probably benign 0.00
R5584:Nlrp4e UTSW 7 23,020,602 (GRCm39) missense probably benign
R5683:Nlrp4e UTSW 7 23,052,697 (GRCm39) missense probably damaging 0.99
R6160:Nlrp4e UTSW 7 23,020,731 (GRCm39) missense probably damaging 0.99
R6313:Nlrp4e UTSW 7 23,052,597 (GRCm39) missense probably benign
R6427:Nlrp4e UTSW 7 23,020,058 (GRCm39) missense possibly damaging 0.48
R6647:Nlrp4e UTSW 7 23,020,740 (GRCm39) missense probably benign 0.00
R6929:Nlrp4e UTSW 7 23,036,156 (GRCm39) critical splice acceptor site probably null
R7307:Nlrp4e UTSW 7 23,020,953 (GRCm39) missense probably benign 0.07
R7792:Nlrp4e UTSW 7 23,021,182 (GRCm39) missense possibly damaging 0.60
R8169:Nlrp4e UTSW 7 23,019,931 (GRCm39) missense probably benign 0.06
R8445:Nlrp4e UTSW 7 23,039,965 (GRCm39) missense probably benign 0.00
R8487:Nlrp4e UTSW 7 23,020,983 (GRCm39) missense probably benign 0.00
R8906:Nlrp4e UTSW 7 23,020,556 (GRCm39) missense possibly damaging 0.88
R9124:Nlrp4e UTSW 7 23,020,403 (GRCm39) missense probably benign
R9167:Nlrp4e UTSW 7 23,039,951 (GRCm39) missense probably benign 0.00
R9181:Nlrp4e UTSW 7 23,061,270 (GRCm39) nonsense probably null
R9219:Nlrp4e UTSW 7 23,020,941 (GRCm39) missense possibly damaging 0.50
R9229:Nlrp4e UTSW 7 23,020,799 (GRCm39) missense probably benign 0.00
R9321:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9323:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9325:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9379:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9380:Nlrp4e UTSW 7 23,020,755 (GRCm39) missense probably benign
R9448:Nlrp4e UTSW 7 23,000,956 (GRCm39) missense probably benign
R9523:Nlrp4e UTSW 7 23,054,636 (GRCm39) missense probably benign 0.00
R9593:Nlrp4e UTSW 7 23,020,197 (GRCm39) missense probably benign 0.19
X0022:Nlrp4e UTSW 7 23,042,544 (GRCm39) missense probably damaging 1.00
X0025:Nlrp4e UTSW 7 23,042,603 (GRCm39) missense possibly damaging 0.91
X0026:Nlrp4e UTSW 7 23,054,648 (GRCm39) missense possibly damaging 0.87
Posted On 2012-12-06