Incidental Mutation 'IGL01017:Nlrp4e'
ID 53676
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 # IGL01017
Quality Score
Status
Chromosome 7
Chromosomal Location 23000617-23061702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23021092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 526 (K526N)
Ref Sequence ENSEMBL: ENSMUSP00000075794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076470]
AlphaFold Q66X19
Predicted Effect possibly damaging
Transcript: ENSMUST00000076470
AA Change: K526N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: K526N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,607,218 (GRCm39) A29T probably damaging Het
Ankrd11 T C 8: 123,621,467 (GRCm39) K795R probably damaging Het
Atg3 T C 16: 45,004,174 (GRCm39) probably null Het
Ccdc169 T C 3: 55,078,739 (GRCm39) V200A possibly damaging Het
Cdr2l C A 11: 115,283,564 (GRCm39) Q141K probably damaging Het
Cts3 T A 13: 61,715,988 (GRCm39) I93F probably damaging Het
Eif2ak2 A G 17: 79,171,287 (GRCm39) L372S probably damaging Het
Elovl5 T C 9: 77,888,853 (GRCm39) I240T possibly damaging Het
Farp1 C T 14: 121,510,186 (GRCm39) A728V possibly damaging Het
Fbln1 A G 15: 85,128,390 (GRCm39) D529G possibly damaging Het
Flnb G T 14: 7,917,390 (GRCm38) probably benign Het
Gm14401 A T 2: 176,778,625 (GRCm39) H237L probably damaging Het
Hivep3 T A 4: 119,956,443 (GRCm39) H1586Q probably damaging Het
Igkv12-98 T A 6: 68,548,093 (GRCm39) L74* probably null Het
Iigp1c T A 18: 60,378,508 (GRCm39) D14E possibly damaging Het
Ktn1 T C 14: 47,946,335 (GRCm39) S917P probably benign Het
Lama3 T C 18: 12,574,200 (GRCm39) probably null Het
Lamb1 A G 12: 31,351,063 (GRCm39) D723G possibly damaging Het
Lrrc39 A T 3: 116,364,500 (GRCm39) R130S probably benign Het
Mcm3 A C 1: 20,875,039 (GRCm39) probably null Het
Muc19 T G 15: 91,764,901 (GRCm39) noncoding transcript Het
Necap2 A G 4: 140,794,879 (GRCm39) F266S probably damaging Het
Nfil3 C T 13: 53,122,055 (GRCm39) G283D probably damaging Het
Or13a20 A G 7: 140,232,389 (GRCm39) T166A probably benign Het
Or4p7 T A 2: 88,222,245 (GRCm39) V218E possibly damaging Het
Pelp1 G A 11: 70,287,720 (GRCm39) R401W probably damaging Het
Phldb3 G T 7: 24,328,295 (GRCm39) C613F probably damaging Het
Ppp1ca T C 19: 4,243,110 (GRCm39) Y93H probably damaging Het
Ppp1r3b A G 8: 35,851,476 (GRCm39) E105G probably benign Het
Prb1a G T 6: 132,184,194 (GRCm39) Q480K unknown Het
Ryr1 A T 7: 28,781,968 (GRCm39) I2007N probably damaging Het
Scgb1b27 A G 7: 33,721,228 (GRCm39) T39A probably damaging Het
Serpinb3b T C 1: 107,082,187 (GRCm39) D359G probably benign Het
Sgo2b G T 8: 64,379,557 (GRCm39) R1092S probably benign Het
Sh3pxd2b C A 11: 32,353,993 (GRCm39) S187* probably null Het
Slc11a1 T A 1: 74,418,955 (GRCm39) L92H probably damaging Het
Smc3 T C 19: 53,617,758 (GRCm39) V585A probably damaging Het
Sp6 A G 11: 96,913,429 (GRCm39) probably benign Het
Spata16 A T 3: 26,894,871 (GRCm39) I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 (GRCm39) H33L probably benign Het
Tnxb T A 17: 34,912,782 (GRCm39) D1642E probably damaging Het
Ttc1 T C 11: 43,621,320 (GRCm39) N287S probably damaging Het
Ttc9 G A 12: 81,678,536 (GRCm39) V120I possibly damaging Het
Umps A G 16: 33,787,272 (GRCm39) V27A probably damaging Het
Usp50 C A 2: 126,551,334 (GRCm39) M48I probably damaging Het
Vmn1r76 A T 7: 11,664,309 (GRCm39) C267S possibly damaging Het
Wee1 A T 7: 109,725,055 (GRCm39) D275V possibly damaging Het
Zmym6 C T 4: 126,982,152 (GRCm39) P63L probably benign Het
Other mutations in Nlrp4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Nlrp4e APN 7 23,042,565 (GRCm39) missense probably damaging 1.00
IGL00833:Nlrp4e APN 7 23,039,896 (GRCm39) missense probably benign 0.00
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 2013-06-28