Mutagenetix > Incidental Mutation

Incidental Mutation 'R9167:Nlrp4e'

696127

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

068946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23000617-23061702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23039951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 758 (N758S)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: N758S

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

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: N758S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,952 (GRCm39)	V815F	possibly damaging	Het
Abcb4	T	A	5: 8,986,849 (GRCm39)	L756*	probably null	Het
Acrbp	T	C	6: 125,039,942 (GRCm39)	L515P	probably damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Atic	T	A	1: 71,604,040 (GRCm39)	I201N	probably benign	Het
Avpr1b	T	C	1: 131,537,151 (GRCm39)	S312P	probably damaging	Het
Cables1	T	C	18: 12,039,029 (GRCm39)	V314A	possibly damaging	Het
Cd22	G	A	7: 30,575,430 (GRCm39)	T204I	probably benign	Het
Cep250	A	G	2: 155,828,920 (GRCm39)	N95D		Het
Ctla4	C	T	1: 60,951,695 (GRCm39)	R75W	probably damaging	Het
Cul7	A	G	17: 46,966,623 (GRCm39)	M649V	probably benign	Het
Ddx46	T	A	13: 55,802,915 (GRCm39)	V479E	probably null	Het
Dnah7a	T	C	1: 53,657,370 (GRCm39)	N802S	probably benign	Het
Fmn2	G	T	1: 174,331,056 (GRCm39)	R482L	unknown	Het
Fyn	T	G	10: 39,402,811 (GRCm39)	D194E	probably benign	Het
Hdac4	G	A	1: 91,875,256 (GRCm39)	T905M	probably benign	Het
Herc1	A	G	9: 66,411,900 (GRCm39)	I4707V	possibly damaging	Het
Hmgcs2	T	C	3: 98,204,430 (GRCm39)	I277T	possibly damaging	Het
Kcnj15	A	G	16: 95,096,741 (GRCm39)	D121G	probably damaging	Het
Kcnt2	A	G	1: 140,506,200 (GRCm39)	E899G	probably benign	Het
Kif16b	A	T	2: 142,542,840 (GRCm39)	L152*	probably null	Het
Krt73	A	G	15: 101,702,405 (GRCm39)	V486A	probably benign	Het
Lrrc37a	T	A	11: 103,347,658 (GRCm39)	K3012N	unknown	Het
Musk	A	T	4: 58,296,687 (GRCm39)	I96F	probably benign	Het
Myrfl	A	G	10: 116,667,450 (GRCm39)	V330A	probably damaging	Het
Nanp	A	T	2: 150,872,728 (GRCm39)	C67S	probably benign	Het
Nrxn3	T	A	12: 89,154,068 (GRCm39)	V345D	probably damaging	Het
Nsun7	G	A	5: 66,435,994 (GRCm39)	V289I	possibly damaging	Het
Or52d1	A	G	7: 103,756,426 (GRCm39)	*313W	probably null	Het
Pde4a	T	C	9: 21,102,798 (GRCm39)	S161P	probably benign	Het
Pom121l2	C	T	13: 22,167,160 (GRCm39)	A477V	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,664,398 (GRCm39)	I1651N	probably damaging	Het
Serpinb6e	A	G	13: 34,023,009 (GRCm39)	F125L	possibly damaging	Het
Slc2a9	T	A	5: 38,549,092 (GRCm39)	T341S	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tasor2	A	G	13: 3,624,724 (GRCm39)	V1742A	probably benign	Het
Tlx2	T	A	6: 83,046,042 (GRCm39)	K211*	probably null	Het
Tmem266	A	G	9: 55,322,231 (GRCm39)	D174G	probably damaging	Het
Tpm3	T	A	3: 89,994,824 (GRCm39)	I147N	probably benign	Het
Unc93a	T	C	17: 13,335,108 (GRCm39)	K313E	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,138 (GRCm39)	E71A	probably benign	Het
Vwa2	T	A	19: 56,899,063 (GRCm39)	D754E	probably benign	Het
Zfp677	T	C	17: 21,613,460 (GRCm39)	V18A	probably damaging	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01017:Nlrp4e	APN	7	23,021,092 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- AACCTTCATGGGAATAGCAAGG -3'
(R):5'- GATCCTTGAGCTCTAAGACCC -3'

Sequencing Primer
(F):5'- TTCATGGGAATAGCAAGGAAAAATTG -3'
(R):5'- CAGCTCTGTGGTTGCAGACATC -3'

Posted On

2022-02-07