Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01788:Nlrp4a'

155121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

E330028A19Rik, Nalp-eta, Nalp4a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26454067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 681 (Y681F)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068767] [ENSMUST00000119386] [ENSMUST00000146907]

AlphaFold

Q8BU40

Predicted Effect

probably benign
Transcript: ENSMUST00000068767
AA Change: Y681F

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: Y681F

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	4.9e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119386
AA Change: Y681F

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: Y681F

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	1.3e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146534

Predicted Effect

probably benign
Transcript: ENSMUST00000146907
AA Change: Y681F

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 51,091,715 (GRCm38)		noncoding transcript	Het
Acp6	A	G	3: 97,165,882 (GRCm38)	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,344,923 (GRCm38)	T102A	probably benign	Het
Adcy6	C	A	15: 98,596,519 (GRCm38)	E812*	probably null	Het
Apol6	G	A	15: 77,051,016 (GRCm38)	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,149,983 (GRCm38)	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,629,188 (GRCm38)	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,655,390 (GRCm38)	V869A	probably benign	Het
Dcaf5	A	T	12: 80,348,324 (GRCm38)	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,842,621 (GRCm38)	I165V	probably benign	Het
Dlgap2	T	A	8: 14,843,631 (GRCm38)	I982K	probably benign	Het
Dop1a	A	T	9: 86,531,719 (GRCm38)	H1891L	probably benign	Het
Fhad1	A	C	4: 141,932,802 (GRCm38)	S65R	probably benign	Het
Fn1	A	G	1: 71,613,837 (GRCm38)	I1331T	probably damaging	Het
Fto	A	T	8: 91,409,731 (GRCm38)	Y211F	probably benign	Het
Gm3278	A	C	14: 4,893,332 (GRCm38)	R60S	probably benign	Het
Ifna9	A	G	4: 88,591,860 (GRCm38)	S176P	probably damaging	Het
Klk1	T	C	7: 44,228,983 (GRCm38)	I189T	probably benign	Het
Mcph1	G	A	8: 18,632,404 (GRCm38)	G519E	probably damaging	Het
Mcph1	G	A	8: 18,632,403 (GRCm38)	G519R	probably damaging	Het
N4bp1	A	T	8: 86,860,996 (GRCm38)	V438E	probably benign	Het
Ncapg	T	A	5: 45,671,081 (GRCm38)	V58E	probably damaging	Het
Nid2	T	A	14: 19,807,979 (GRCm38)	S1054T	probably damaging	Het
Or4f57	T	C	2: 111,961,007 (GRCm38)	D22G	probably benign	Het
Or4k15c	A	G	14: 50,084,502 (GRCm38)	Y60H	probably damaging	Het
Or52e19b	C	A	7: 103,383,563 (GRCm38)	M146I	probably benign	Het
Or5b94	G	A	19: 12,675,078 (GRCm38)	R291K	probably damaging	Het
Papln	A	T	12: 83,775,462 (GRCm38)	T364S	probably benign	Het
Pcdh18	C	A	3: 49,755,922 (GRCm38)	E315*	probably null	Het
Pmel	G	A	10: 128,717,832 (GRCm38)	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,893,507 (GRCm38)	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,900,987 (GRCm38)	T541A	probably damaging	Het
Rbl1	A	T	2: 157,163,656 (GRCm38)	N813K	probably benign	Het
Sash1	C	A	10: 8,733,646 (GRCm38)	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,372 (GRCm38)	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,826,001 (GRCm38)	E407D	probably damaging	Het
Slc2a6	G	A	2: 27,024,215 (GRCm38)	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,805,662 (GRCm38)	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,265,537 (GRCm38)	H122N	probably benign	Het
Wfs1	A	G	5: 36,968,636 (GRCm38)	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,588,763 (GRCm38)	S445P	possibly damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26,449,985 (GRCm38)	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26,457,048 (GRCm38)	missense	probably benign
IGL01081:Nlrp4a	APN	7	26,449,829 (GRCm38)	missense	probably benign	0.06
IGL02001:Nlrp4a	APN	7	26,449,969 (GRCm38)	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26,475,097 (GRCm38)	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02193:Nlrp4a	APN	7	26,459,692 (GRCm38)	missense	probably damaging	1.00
IGL02197:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26,449,713 (GRCm38)	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26,459,815 (GRCm38)	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26,449,730 (GRCm38)	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26,449,509 (GRCm38)	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26,464,190 (GRCm38)	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26,444,341 (GRCm38)	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26,450,372 (GRCm38)	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26,449,232 (GRCm38)	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26,462,620 (GRCm38)	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26,457,130 (GRCm38)	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26,453,467 (GRCm38)	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26,444,435 (GRCm38)	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26,464,197 (GRCm38)	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26,449,651 (GRCm38)	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26,450,534 (GRCm38)	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26,450,186 (GRCm38)	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26,450,153 (GRCm38)	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26,453,397 (GRCm38)	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26,449,424 (GRCm38)	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26,449,894 (GRCm38)	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26,464,198 (GRCm38)	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26,449,230 (GRCm38)	splice site	probably null
R3812:Nlrp4a	UTSW	7	26,449,693 (GRCm38)	missense	probably benign
R4114:Nlrp4a	UTSW	7	26,449,940 (GRCm38)	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26,449,518 (GRCm38)	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26,450,229 (GRCm38)	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26,464,108 (GRCm38)	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26,475,090 (GRCm38)	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26,450,808 (GRCm38)	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26,450,419 (GRCm38)	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26,462,480 (GRCm38)	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26,450,492 (GRCm38)	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26,459,811 (GRCm38)	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26,454,153 (GRCm38)	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26,457,030 (GRCm38)	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26,450,164 (GRCm38)	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26,453,389 (GRCm38)	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26,449,396 (GRCm38)	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26,449,833 (GRCm38)	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26,450,438 (GRCm38)	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26,444,273 (GRCm38)	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26,449,538 (GRCm38)	missense	not run
R7548:Nlrp4a	UTSW	7	26,450,179 (GRCm38)	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26,449,245 (GRCm38)	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26,449,562 (GRCm38)	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26,449,265 (GRCm38)	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26,450,057 (GRCm38)	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26,464,146 (GRCm38)	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26,450,645 (GRCm38)	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26,450,794 (GRCm38)	missense	probably benign
R8477:Nlrp4a	UTSW	7	26,459,794 (GRCm38)	missense	probably benign
R8704:Nlrp4a	UTSW	7	26,457,138 (GRCm38)	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26,444,136 (GRCm38)	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26,450,098 (GRCm38)	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26,459,652 (GRCm38)	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26,444,342 (GRCm38)	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26,454,163 (GRCm38)	missense	probably benign	0.01

Posted On

2014-02-04