Incidental Mutation 'IGL01537:Nlrp4b'
ID89992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp4b
Ensembl Gene ENSMUSG00000034087
Gene NameNLR family, pyrin domain containing 4B
SynonymsNalp4b, Nalp-gamma
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01537
Quality Score
Status
Chromosome7
Chromosomal Location10687789-10730168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10714991 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 7 (F7L)
Ref Sequence ENSEMBL: ENSMUSP00000115831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990] [ENSMUST00000211069]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047809
AA Change: F374L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: F374L

DomainStartEndE-ValueType
PYRIN 6 89 1.4e-20 SMART
Pfam:NACHT 143 312 7.9e-40 PFAM
low complexity region 520 535 N/A INTRINSIC
LRR 683 710 4.9e0 SMART
LRR 712 739 1.97e0 SMART
LRR 740 767 1.13e-4 SMART
LRR 769 796 1.93e1 SMART
LRR 797 824 1.73e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117413
AA Change: F374L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: F374L

DomainStartEndE-ValueType
PYRIN 6 89 1.4e-20 SMART
Pfam:NACHT 143 312 3.3e-39 PFAM
low complexity region 520 535 N/A INTRINSIC
LRR 683 710 4.9e0 SMART
LRR 712 739 1.97e0 SMART
LRR 740 767 1.13e-4 SMART
LRR 769 796 1.93e1 SMART
LRR 797 824 1.73e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000132990
AA Change: F7L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: F7L

DomainStartEndE-ValueType
low complexity region 153 168 N/A INTRINSIC
LRR 316 343 4.9e0 SMART
LRR 345 372 1.97e0 SMART
LRR 373 400 1.13e-4 SMART
LRR 402 429 1.93e1 SMART
LRR 430 457 1.73e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211069
Predicted Effect probably benign
Transcript: ENSMUST00000211258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211772
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Nlrp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Nlrp4b APN 7 10714955 missense possibly damaging 0.68
IGL01456:Nlrp4b APN 7 10714223 missense probably benign 0.26
IGL02539:Nlrp4b APN 7 10714428 missense probably damaging 0.96
IGL02730:Nlrp4b APN 7 10714758 missense probably damaging 1.00
IGL02871:Nlrp4b APN 7 10715265 missense probably benign 0.26
IGL03008:Nlrp4b APN 7 10714589 missense probably benign 0.00
IGL03109:Nlrp4b APN 7 10714946 missense probably damaging 1.00
IGL03251:Nlrp4b APN 7 10714500 missense probably benign 0.01
IGL03354:Nlrp4b APN 7 10714538 missense probably damaging 0.99
R0052:Nlrp4b UTSW 7 10725962 nonsense probably null
R0348:Nlrp4b UTSW 7 10715181 missense possibly damaging 0.60
R0564:Nlrp4b UTSW 7 10714658 missense probably benign 0.15
R0573:Nlrp4b UTSW 7 10714215 missense probably benign 0.01
R0581:Nlrp4b UTSW 7 10714530 missense probably damaging 1.00
R1201:Nlrp4b UTSW 7 10715436 missense possibly damaging 0.64
R1541:Nlrp4b UTSW 7 10725052 missense possibly damaging 0.91
R1771:Nlrp4b UTSW 7 10718593 missense probably damaging 0.96
R1781:Nlrp4b UTSW 7 10715339 missense probably benign 0.13
R1833:Nlrp4b UTSW 7 10725936 missense probably benign 0.00
R2405:Nlrp4b UTSW 7 10714728 missense probably benign 0.08
R2871:Nlrp4b UTSW 7 10710243 nonsense probably null
R2871:Nlrp4b UTSW 7 10710243 nonsense probably null
R2873:Nlrp4b UTSW 7 10710243 nonsense probably null
R2904:Nlrp4b UTSW 7 10714367 missense probably damaging 1.00
R3410:Nlrp4b UTSW 7 10715529 missense probably damaging 1.00
R3714:Nlrp4b UTSW 7 10714881 missense probably benign 0.04
R3982:Nlrp4b UTSW 7 10714431 missense possibly damaging 0.95
R4668:Nlrp4b UTSW 7 10714733 missense possibly damaging 0.66
R4690:Nlrp4b UTSW 7 10719203 missense probably benign 0.00
R4857:Nlrp4b UTSW 7 10715298 missense probably benign 0.05
R5247:Nlrp4b UTSW 7 10714218 missense probably benign 0.21
R5381:Nlrp4b UTSW 7 10715245 nonsense probably null
R5529:Nlrp4b UTSW 7 10714946 missense possibly damaging 0.91
R5589:Nlrp4b UTSW 7 10715585 missense probably benign 0.34
R5770:Nlrp4b UTSW 7 10715487 missense probably benign 0.00
R5990:Nlrp4b UTSW 7 10714491 missense possibly damaging 0.61
R6049:Nlrp4b UTSW 7 10714713 nonsense probably null
R6329:Nlrp4b UTSW 7 10724920 missense probably benign 0.16
R6377:Nlrp4b UTSW 7 10715412 missense probably benign 0.00
R7107:Nlrp4b UTSW 7 10715217 missense probably damaging 0.96
R7209:Nlrp4b UTSW 7 10710370 missense probably benign 0.01
R7237:Nlrp4b UTSW 7 10715216 missense probably benign 0.12
R7537:Nlrp4b UTSW 7 10714889 missense probably benign 0.05
R7793:Nlrp4b UTSW 7 10725074 missense probably benign 0.00
R8138:Nlrp4b UTSW 7 10715531 missense probably benign 0.01
R8190:Nlrp4b UTSW 7 10714392 missense probably damaging 0.96
R8326:Nlrp4b UTSW 7 10718544 missense probably benign 0.05
R8353:Nlrp4b UTSW 7 10715601 missense probably damaging 0.99
R8417:Nlrp4b UTSW 7 10725953 nonsense probably null
R8453:Nlrp4b UTSW 7 10715601 missense probably damaging 0.99
X0063:Nlrp4b UTSW 7 10729587 missense probably benign 0.01
Posted On2013-12-03