Mutagenetix > Incidental Mutations

Incidental Mutation 'R2177:Nlrp4e'

236936

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

MMRRC Submission

040179-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23355261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 947 (T947S)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076470]

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: T947S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: T947S

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208495

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,453	N356K	probably damaging	Het
Acap2	C	T	16: 31,133,528		probably null	Het
Adamts19	T	C	18: 58,954,554	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,777,228	M539K	probably damaging	Het
Aplp1	A	T	7: 30,442,521	C210*	probably null	Het
Apoa1	A	T	9: 46,230,073	K156*	probably null	Het
AW551984	G	A	9: 39,599,815	R159C	probably benign	Het
Bok	C	T	1: 93,695,065	Q112*	probably null	Het
Cfap57	T	G	4: 118,606,688	I323L	probably benign	Het
Cfap69	T	A	5: 5,625,803	E270D	probably damaging	Het
Ch25h	G	T	19: 34,474,697	L144M	probably damaging	Het
Clcn6	T	A	4: 148,014,600	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,266,447	T115S	probably benign	Het
Csf1r	T	A	18: 61,114,943		probably benign	Het
Ddx6	A	G	9: 44,627,731	T279A	probably damaging	Het
Dnah8	A	G	17: 30,653,393	H452R	probably benign	Het
Dscam	T	A	16: 96,610,324	D1784V	probably damaging	Het
Exo1	T	A	1: 175,882,890		probably null	Het
Fcho1	A	G	8: 71,712,261	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,934,432	A56T	probably damaging	Het
Gbf1	T	C	19: 46,265,670	S599P	probably benign	Het
Iqce	T	C	5: 140,691,593		probably benign	Het
Kat2a	A	G	11: 100,710,822	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,969,271	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,986,449	V43A	probably damaging	Het
Maea	C	G	5: 33,371,690	Q326E	probably benign	Het
Man1a2	A	T	3: 100,632,531	I308N	probably damaging	Het
Marf1	G	T	16: 14,152,607	R83S	probably benign	Het
Me3	A	C	7: 89,633,070	T54P	probably benign	Het
Mme	A	T	3: 63,301,005	I63L	probably benign	Het
Mmel1	A	G	4: 154,894,103	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,552,380	V199A	probably benign	Het
Mrpl36	T	A	13: 73,331,469	F33I	probably benign	Het
Olfr297	G	A	7: 86,527,662	V302I	probably benign	Het
Olfr32	T	A	2: 90,138,464	H225L	possibly damaging	Het
Olfr922	A	T	9: 38,816,186	I228F	possibly damaging	Het
Parp4	A	T	14: 56,659,289	R1923S	unknown	Het
Pcm1	T	C	8: 41,275,965	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,459,395	S26G	probably benign	Het
Prom1	A	T	5: 44,026,739	H433Q	possibly damaging	Het
Rab7	T	C	6: 88,005,081	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,724,062	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,427,667	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263	R1270T	probably benign	Het
Sdhaf4	C	T	1: 23,996,289	G93R	probably damaging	Het
Sec24a	T	C	11: 51,704,401	T910A	probably benign	Het
Sesn1	A	G	10: 41,903,782	H345R	possibly damaging	Het
Snx4	T	A	16: 33,286,058		probably null	Het
Tchh	A	G	3: 93,444,132	E293G	unknown	Het
Tmem2	T	C	19: 21,811,785	S528P	possibly damaging	Het
Ulk2	T	A	11: 61,791,509	T727S	probably benign	Het
Usp53	T	C	3: 122,936,057	E756G	probably damaging	Het
Vmn2r68	G	A	7: 85,221,915	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,996,631	N56S	possibly damaging	Het
Washc5	A	T	15: 59,363,269	Y263*	probably null	Het
Zfp119b	A	T	17: 55,938,639	C516S	probably damaging	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23343140	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23340471	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23321667	missense	possibly damaging	0.93
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
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
R7307:Nlrp4e	UTSW	7	23321528	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23321757	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23320506	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23340540	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23321558	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23321131	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23320978	missense	probably benign
R9167:Nlrp4e	UTSW	7	23340526	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23361845	nonsense	probably null
R9219:Nlrp4e	UTSW	7	23321516	missense	possibly damaging	0.50
R9229:Nlrp4e	UTSW	7	23321374	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9323:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9325:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9379:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9380:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9448:Nlrp4e	UTSW	7	23301531	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TCTAGACTGAGTCACCACCC -3'
(R):5'- TTATACTAGTGTGGCAAGGACTC -3'

Sequencing Primer
(F):5'- TGCCTTCTCACCCTGATACAGAAC -3'
(R):5'- ATACTAGTGTGGCAAGGACTCTATGG -3'

Posted On

2014-10-02