Incidental Mutation 'IGL01017:Nlrp4e'
ID53676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4e
Ensembl Gene ENSMUSG00000045693
Gene NameNLR family, pyrin domain containing 4E
Synonyms4930406H16Rik, Nalp4e, Nalp-epsilon
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01017
Quality Score
Status
Chromosome7
Chromosomal Location23301192-23362277 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23321667 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 526 (K526N)
Ref Sequence ENSEMBL: ENSMUSP00000075794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076470]
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: 88,459,359 A29T probably damaging Het
Ankrd11 T C 8: 122,894,728 K795R probably damaging Het
Atg3 T C 16: 45,183,811 probably null Het
Ccdc169 T C 3: 55,171,318 V200A possibly damaging Het
Cdr2l C A 11: 115,392,738 Q141K probably damaging Het
Cts3 T A 13: 61,568,174 I93F probably damaging Het
Eif2ak2 A G 17: 78,863,858 L372S probably damaging Het
Elovl5 T C 9: 77,981,571 I240T possibly damaging Het
Farp1 C T 14: 121,272,774 A728V possibly damaging Het
Fbln1 A G 15: 85,244,189 D529G possibly damaging Het
Flnb G T 14: 7,917,390 probably benign Het
Gm14401 A T 2: 177,086,832 H237L probably damaging Het
Gm4951 T A 18: 60,245,436 D14E possibly damaging Het
Hivep3 T A 4: 120,099,246 H1586Q probably damaging Het
Igkv12-98 T A 6: 68,571,109 L74* probably null Het
Ktn1 T C 14: 47,708,878 S917P probably benign Het
Lama3 T C 18: 12,441,143 probably null Het
Lamb1 A G 12: 31,301,064 D723G possibly damaging Het
Lrrc39 A T 3: 116,570,851 R130S probably benign Het
Mcm3 A C 1: 20,804,815 probably null Het
Muc19 T G 15: 91,880,707 noncoding transcript Het
Necap2 A G 4: 141,067,568 F266S probably damaging Het
Nfil3 C T 13: 52,968,019 G283D probably damaging Het
Olfr1178 T A 2: 88,391,901 V218E possibly damaging Het
Olfr53 A G 7: 140,652,476 T166A probably benign Het
Pelp1 G A 11: 70,396,894 R401W probably damaging Het
Phldb3 G T 7: 24,628,870 C613F probably damaging Het
Ppp1ca T C 19: 4,193,111 Y93H probably damaging Het
Ppp1r3b A G 8: 35,384,322 E105G probably benign Het
Prb1 G T 6: 132,207,231 Q480K unknown Het
Ryr1 A T 7: 29,082,543 I2007N probably damaging Het
Scgb1b27 A G 7: 34,021,803 T39A probably damaging Het
Serpinb3b T C 1: 107,154,457 D359G probably benign Het
Sgo2b G T 8: 63,926,523 R1092S probably benign Het
Sh3pxd2b C A 11: 32,403,993 S187* probably null Het
Slc11a1 T A 1: 74,379,796 L92H probably damaging Het
Smc3 T C 19: 53,629,327 V585A probably damaging Het
Sp6 A G 11: 97,022,603 probably benign Het
Spata16 A T 3: 26,840,722 I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 H33L probably benign Het
Tnxb T A 17: 34,693,808 D1642E probably damaging Het
Ttc1 T C 11: 43,730,493 N287S probably damaging Het
Ttc9 G A 12: 81,631,762 V120I possibly damaging Het
Umps A G 16: 33,966,902 V27A probably damaging Het
Usp50 C A 2: 126,709,414 M48I probably damaging Het
Vmn1r76 A T 7: 11,930,382 C267S possibly damaging Het
Wee1 A T 7: 110,125,848 D275V possibly damaging Het
Zmym6 C T 4: 127,088,359 P63L probably benign Het
Other mutations in Nlrp4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Nlrp4e APN 7 23343140 missense probably damaging 1.00
IGL00833:Nlrp4e APN 7 23340471 missense probably benign 0.00
IGL01025:Nlrp4e APN 7 23353161 splice site probably benign
IGL01815:Nlrp4e APN 7 23321438 missense probably benign 0.02
IGL01924:Nlrp4e APN 7 23320830 nonsense probably null
IGL02245:Nlrp4e APN 7 23320875 missense probably damaging 1.00
IGL02745:Nlrp4e APN 7 23321291 missense probably damaging 1.00
IGL02746:Nlrp4e APN 7 23321839 missense probably benign 0.00
IGL02987:Nlrp4e APN 7 23301433 missense probably damaging 1.00
IGL02997:Nlrp4e APN 7 23301374 missense probably benign 0.04
IGL03193:Nlrp4e APN 7 23320826 missense probably damaging 1.00
IGL03304:Nlrp4e APN 7 23353343 critical splice donor site probably null
IGL03352:Nlrp4e APN 7 23320826 missense probably damaging 1.00
R0389:Nlrp4e UTSW 7 23355203 missense probably damaging 0.98
R1028:Nlrp4e UTSW 7 23321744 missense probably damaging 1.00
R1163:Nlrp4e UTSW 7 23320972 missense probably benign 0.03
R1269:Nlrp4e UTSW 7 23353338 missense possibly damaging 0.95
R1400:Nlrp4e UTSW 7 23321660 missense possibly damaging 0.93
R1497:Nlrp4e UTSW 7 23320372 missense probably benign 0.00
R1518:Nlrp4e UTSW 7 23321843 missense probably benign 0.33
R1716:Nlrp4e UTSW 7 23321033 missense possibly damaging 0.56
R1727:Nlrp4e UTSW 7 23320995 missense probably benign 0.01
R1998:Nlrp4e UTSW 7 23321246 missense probably benign 0.00
R2177:Nlrp4e UTSW 7 23355261 missense probably benign 0.00
R3724:Nlrp4e UTSW 7 23321377 missense probably benign 0.28
R3767:Nlrp4e UTSW 7 23340563 missense probably damaging 1.00
R3795:Nlrp4e UTSW 7 23320803 missense probably benign 0.35
R4387:Nlrp4e UTSW 7 23301477 missense probably benign 0.00
R4387:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4388:Nlrp4e UTSW 7 23301477 missense probably benign 0.00
R4388:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4389:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4403:Nlrp4e UTSW 7 23321463 nonsense probably null
R4444:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4486:Nlrp4e UTSW 7 23321227 missense probably benign 0.01
R4547:Nlrp4e UTSW 7 23336866 missense probably benign 0.00
R4553:Nlrp4e UTSW 7 23320979 missense probably benign
R4666:Nlrp4e UTSW 7 23336780 nonsense probably null
R4721:Nlrp4e UTSW 7 23321096 missense possibly damaging 0.84
R4728:Nlrp4e UTSW 7 23321564 missense probably benign
R4758:Nlrp4e UTSW 7 23320618 missense probably benign 0.17
R4775:Nlrp4e UTSW 7 23343100 missense probably benign 0.14
R4830:Nlrp4e UTSW 7 23336740 missense probably benign 0.03
R4954:Nlrp4e UTSW 7 23361893 nonsense probably null
R5277:Nlrp4e UTSW 7 23321438 missense probably benign 0.02
R5352:Nlrp4e UTSW 7 23353173 missense probably benign 0.26
R5521:Nlrp4e UTSW 7 23321765 missense probably benign 0.00
R5528:Nlrp4e UTSW 7 23336891 missense probably benign 0.07
R5537:Nlrp4e UTSW 7 23320489 missense probably benign 0.00
R5584:Nlrp4e UTSW 7 23321177 missense probably benign
R5683:Nlrp4e UTSW 7 23353272 missense probably damaging 0.99
R6160:Nlrp4e UTSW 7 23321306 missense probably damaging 0.99
R6313:Nlrp4e UTSW 7 23353172 missense probably benign
R6427:Nlrp4e UTSW 7 23320633 missense possibly damaging 0.48
R6647:Nlrp4e UTSW 7 23321315 missense probably benign 0.00
R6929:Nlrp4e UTSW 7 23336731 critical splice acceptor site probably null
X0022:Nlrp4e UTSW 7 23343119 missense probably damaging 1.00
X0025:Nlrp4e UTSW 7 23343178 missense possibly damaging 0.91
X0026:Nlrp4e UTSW 7 23355223 missense possibly damaging 0.87
Posted On2013-06-28