Mutagenetix > Incidental Mutation

Incidental Mutation 'R4849:Peli1'

373413

Institutional Source

Beutler Lab

Gene Symbol

Peli1

Ensembl Gene

ENSMUSG00000020134

Gene Name

pellino 1

Synonyms

D11Ertd676e, 2810468L03Rik, A930031K15Rik

MMRRC Submission

042461-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21091291-21150323 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 21148528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093290] [ENSMUST00000101477]

AlphaFold

Q8C669

Predicted Effect

probably benign
Transcript: ENSMUST00000093290

SMART Domains

Protein: ENSMUSP00000090979
Gene: ENSMUSG00000020134

Domain	Start	End	E-Value	Type
Pfam:Pellino	8	418	5.4e-227	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101477

SMART Domains

Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134

Domain	Start	End	E-Value	Type
Pfam:Pellino	3	418	6.5e-241	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149675

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	T	7: 28,615,452	R239S	possibly damaging	Het
Angptl1	C	A	1: 156,857,165	N301K	probably benign	Het
Ankrd26	T	A	6: 118,532,296	T603S	probably benign	Het
App	T	C	16: 85,056,434	D252G	unknown	Het
Atxn3	A	G	12: 101,934,368	S219P	probably benign	Het
Birc6	T	C	17: 74,647,388	S3397P	probably damaging	Het
Bivm	A	G	1: 44,142,873	I414V	possibly damaging	Het
Cemip	A	G	7: 83,935,737	F1324L	possibly damaging	Het
Ckap5	T	A	2: 91,615,271	N1724K	probably damaging	Het
Corin	T	A	5: 72,302,835	M1035L	probably damaging	Het
Ctnna3	T	C	10: 64,873,315	I711T	probably damaging	Het
Cts6	A	T	13: 61,201,601	W98R	probably null	Het
Dip2a	A	G	10: 76,294,533	S580P	probably damaging	Het
Dock6	A	G	9: 21,811,772		probably null	Het
Dusp15	T	A	2: 152,949,082	T32S	probably damaging	Het
Eogt	T	A	6: 97,116,055	N387I	probably damaging	Het
Evx2	T	C	2: 74,659,331	D29G	probably benign	Het
Fat1	A	G	8: 45,012,970	N1422S	probably benign	Het
Fat2	T	C	11: 55,310,637	D537G	probably damaging	Het
Fat3	A	C	9: 16,377,948	I93S	probably benign	Het
Fem1b	T	C	9: 62,797,294	E228G	probably damaging	Het
Fh1	A	G	1: 175,620,506	T25A	probably benign	Het
Fndc3b	A	G	3: 27,459,948	W695R	probably damaging	Het
Gaa	G	A	11: 119,272,987	V222I	possibly damaging	Het
Ggnbp1	T	C	17: 27,032,973		probably null	Het
Gipc1	A	G	8: 83,662,127	Y154C	probably benign	Het
Gm5356	G	T	8: 89,187,042		noncoding transcript	Het
Gnl1	T	A	17: 35,987,711		probably null	Het
Gpcpd1	C	T	2: 132,534,099	G605R	probably damaging	Het
Guca1a	T	C	17: 47,394,737	T177A	possibly damaging	Het
Ifit1bl1	T	C	19: 34,594,676	E127G	probably damaging	Het
Ift81	A	T	5: 122,591,219	I350N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Ing4	A	G	6: 125,043,983	R23G	probably damaging	Het
Ins1	A	G	19: 52,264,946	N108S	probably damaging	Het
Iqce	A	T	5: 140,693,459	M72K	possibly damaging	Het
Itga3	C	A	11: 95,076,271	M22I	probably benign	Het
Kctd18	T	C	1: 57,961,993	E201G	probably damaging	Het
Klc1	A	G	12: 111,781,695	N344S	probably damaging	Het
Klrb1f	A	T	6: 129,056,384	I192F	probably damaging	Het
Klrg2	A	T	6: 38,630,279		probably null	Het
Kntc1	A	C	5: 123,759,065	I164L	probably benign	Het
Ltf	T	A	9: 111,025,990	I357K	probably benign	Het
Mr1	T	C	1: 155,130,690	T304A	probably benign	Het
Msh6	C	T	17: 87,983,519	R178C	possibly damaging	Het
Mtch1	T	C	17: 29,347,591	D66G	probably benign	Het
Mtmr7	A	G	8: 40,608,997	V15A	probably benign	Het
Mtss1l	A	T	8: 110,726,243	H40L	possibly damaging	Het
Mxra8	A	G	4: 155,840,874		probably benign	Het
Myo3b	T	C	2: 70,244,909	L535P	probably damaging	Het
Neurl2	T	A	2: 164,832,819		probably null	Het
Nfia	A	C	4: 98,081,811	T503P	probably damaging	Het
Noa1	T	C	5: 77,306,332	E487G	possibly damaging	Het
Nuak1	A	T	10: 84,375,279	V315D	probably damaging	Het
Nup205	A	G	6: 35,230,570	N1519S	possibly damaging	Het
Olfr107	T	C	17: 37,405,698	V50A	probably benign	Het
Olfr364-ps1	T	C	2: 37,146,254	L14P	probably damaging	Het
Olfr417	T	A	1: 174,369,400	I161K	probably damaging	Het
Olfr466	G	A	13: 65,152,679	V152M	possibly damaging	Het
Olfr524	G	T	7: 140,202,427	C114*	probably null	Het
Olfr585	A	G	7: 103,098,319	I193V	possibly damaging	Het
Ppp6r1	A	G	7: 4,643,207	L175P	probably damaging	Het
Prkcd	A	G	14: 30,599,743	L498P	probably damaging	Het
Prss30	T	A	17: 23,972,795	I251F	probably benign	Het
Psme3	A	T	11: 101,317,081	N21Y	probably benign	Het
Ptpra	T	C	2: 130,532,161	Y271H	probably damaging	Het
Ralgapa1	T	A	12: 55,698,803	N1303Y	probably damaging	Het
Rims4	T	C	2: 163,865,543	I121V	probably benign	Het
Rnf123	A	T	9: 108,056,091	L1149Q	probably damaging	Het
Ryr3	T	A	2: 112,908,462	L593F	probably damaging	Het
Sec23b	T	C	2: 144,585,599	F582S	probably damaging	Het
Sgpl1	T	C	10: 61,104,518	K335R	probably benign	Het
Sirpa	C	T	2: 129,609,243	T141I	probably damaging	Het
Slit1	G	T	19: 41,649,544	A270E	probably benign	Het
Snap91	T	C	9: 86,792,560	T533A	possibly damaging	Het
Sphkap	T	G	1: 83,277,384	E881D	probably benign	Het
Sptan1	C	A	2: 30,011,042	R1407S	probably damaging	Het
Tfdp1	A	G	8: 13,373,895	T353A	probably benign	Het
Ttyh1	A	G	7: 4,122,534	I62V	possibly damaging	Het
Vwde	A	T	6: 13,196,048	V326D	possibly damaging	Het
Zfp398	T	C	6: 47,859,512	I82T	possibly damaging	Het
Zp1	A	G	19: 10,918,834	Y176H	possibly damaging	Het

Other mutations in Peli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Peli1	APN	11	21142619	missense	probably damaging	0.99
IGL00484:Peli1	APN	11	21146952	missense	probably damaging	1.00
IGL01393:Peli1	APN	11	21147400	missense	probably benign	0.23
IGL01460:Peli1	APN	11	21146966	missense	probably benign	0.03
IGL01956:Peli1	APN	11	21148501	missense	probably damaging	1.00
IGL03119:Peli1	APN	11	21140560	splice site	probably benign
R0242:Peli1	UTSW	11	21142602	missense	probably damaging	0.97
R0242:Peli1	UTSW	11	21142602	missense	probably damaging	0.97
R2029:Peli1	UTSW	11	21148110	missense	probably damaging	0.99
R4207:Peli1	UTSW	11	21147115	splice site	probably null
R5368:Peli1	UTSW	11	21148389	missense	probably damaging	0.96
R6579:Peli1	UTSW	11	21147059	missense	probably benign	0.01
R7459:Peli1	UTSW	11	21148190	nonsense	probably null
R8965:Peli1	UTSW	11	21148488	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATTTTATGTGGACGCCGGC -3'
(R):5'- GCGGTGATTCAAGAACACTAAAC -3'

Sequencing Primer
(F):5'- ACCCATGCCTTTAGCCCCTG -3'
(R):5'- TTCAAAACTCAGAGTTCAGAAGTC -3'

Posted On

2016-03-01