Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Peli1'

318980

Institutional Source

Beutler Lab

Gene Symbol

Peli1

Ensembl Gene

ENSMUSG00000020134

Gene Name

pellino 1

Synonyms

D11Ertd676e, A930031K15Rik, 2810468L03Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21041291-21100323 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 21097115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099018 (fasta)

Gene Model

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

AlphaFold

Q8C669

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000101477

SMART Domains

Protein: ENSMUSP00000099018
Gene: ENSMUSG00000020134

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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156122

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Acap2	T	A	16: 30,938,245 (GRCm39)	N293I	probably damaging	Het
Adgrg4	G	A	X: 55,964,109 (GRCm39)	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,966,854 (GRCm39)		probably null	Het
Ap1b1	A	G	11: 4,981,637 (GRCm39)	D515G	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,047,750 (GRCm39)	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451 (GRCm39)	D311G	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,973 (GRCm39)	V1033F	probably damaging	Het
Dhx29	G	T	13: 113,064,483 (GRCm39)	A53S	probably benign	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
Efl1	T	C	7: 82,400,024 (GRCm39)	V592A	probably damaging	Het
Elovl7	A	T	13: 108,419,040 (GRCm39)	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 170,881,644 (GRCm39)	K160N	probably benign	Het
Flg	A	G	3: 93,187,169 (GRCm39)	Y207C	probably benign	Het
Fmn2	A	G	1: 174,409,521 (GRCm39)	T585A	unknown	Het
Gm7135	T	C	1: 97,397,620 (GRCm39)		noncoding transcript	Het
Gm8104	G	T	14: 42,959,091 (GRCm39)	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,740,099 (GRCm39)	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Mthfsd	A	G	8: 121,832,365 (GRCm39)	V133A	probably damaging	Het
Nav2	T	A	7: 49,246,979 (GRCm39)	I2168N	probably damaging	Het
Nav2	T	A	7: 49,222,046 (GRCm39)		probably null	Het
Nlrp10	T	A	7: 108,523,548 (GRCm39)	D644V	possibly damaging	Het
Oplah	C	T	15: 76,186,910 (GRCm39)	R635H	probably damaging	Het
Or10n1	A	G	9: 39,525,253 (GRCm39)	Y130C	possibly damaging	Het
Or2c1	T	C	16: 3,657,434 (GRCm39)	L199P	probably damaging	Het
Or5b117	T	C	19: 13,431,835 (GRCm39)	I15M	probably benign	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Pld5	T	G	1: 175,821,441 (GRCm39)	T242P	probably damaging	Het
Rbm5	A	G	9: 107,627,682 (GRCm39)	S420P	probably benign	Het
Rhag	A	T	17: 41,142,544 (GRCm39)	I250F	probably damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
Scaf4	C	T	16: 90,057,103 (GRCm39)	V83I	unknown	Het
Slc24a2	A	G	4: 87,145,442 (GRCm39)	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,747,275 (GRCm39)	L409F	probably damaging	Het
Spns3	A	T	11: 72,429,187 (GRCm39)	V199E	probably damaging	Het
Sspo	A	G	6: 48,455,227 (GRCm39)	T3030A	probably benign	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Stk39	G	T	2: 68,051,264 (GRCm39)	T527K	probably benign	Het
Sult2a1	T	A	7: 13,535,472 (GRCm39)	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Umodl1	G	A	17: 31,178,341 (GRCm39)	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,254,574 (GRCm39)	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,404,523 (GRCm39)	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079 (GRCm39)	I2322V	probably benign	Het
Zfp644	T	C	5: 106,766,142 (GRCm39)	E93G	probably damaging	Het
Zfp81	C	T	17: 33,553,890 (GRCm39)	C308Y	probably damaging	Het

Other mutations in Peli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Peli1	APN	11	21,092,619 (GRCm39)	missense	probably damaging	0.99
IGL00484:Peli1	APN	11	21,096,952 (GRCm39)	missense	probably damaging	1.00
IGL01393:Peli1	APN	11	21,097,400 (GRCm39)	missense	probably benign	0.23
IGL01460:Peli1	APN	11	21,096,966 (GRCm39)	missense	probably benign	0.03
IGL01956:Peli1	APN	11	21,098,501 (GRCm39)	missense	probably damaging	1.00
IGL03119:Peli1	APN	11	21,090,560 (GRCm39)	splice site	probably benign
R0242:Peli1	UTSW	11	21,092,602 (GRCm39)	missense	probably damaging	0.97
R0242:Peli1	UTSW	11	21,092,602 (GRCm39)	missense	probably damaging	0.97
R2029:Peli1	UTSW	11	21,098,110 (GRCm39)	missense	probably damaging	0.99
R4849:Peli1	UTSW	11	21,098,528 (GRCm39)	utr 3 prime	probably benign
R5368:Peli1	UTSW	11	21,098,389 (GRCm39)	missense	probably damaging	0.96
R6579:Peli1	UTSW	11	21,097,059 (GRCm39)	missense	probably benign	0.01
R7459:Peli1	UTSW	11	21,098,190 (GRCm39)	nonsense	probably null
R8965:Peli1	UTSW	11	21,098,488 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGTCGGTCAACTGAAAGTCC -3'
(R):5'- AACTCCATTAGTGGTCAAGCC -3'

Sequencing Primer
(F):5'- GTCGGTCAACTGAAAGTCCTATTG -3'
(R):5'- GGTCAAGCCATCCATCTGC -3'

Posted On

2015-06-10