Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Erlin1'

343972

Institutional Source

Beutler Lab

Gene Symbol

Erlin1

Ensembl Gene

ENSMUSG00000025198

Gene Name

ER lipid raft associated 1

Synonyms

Spfh1, Keo4, 2810439N09Rik

MMRRC Submission

041805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44023383-44058224 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 44057758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 22 (Y22*)

Ref Sequence

ENSEMBL: ENSMUSP00000131012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026217] [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000119591] [ENSMUST00000169092] [ENSMUST00000170801] [ENSMUST00000171952] [ENSMUST00000172041]

AlphaFold

Q91X78

Predicted Effect

probably benign
Transcript: ENSMUST00000026217

SMART Domains

Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pkinase_Tyr	15	254	3.5e-39	PFAM
Pfam:Pkinase	15	298	8.3e-55	PFAM
Blast:PHB	589	659	1e-38	BLAST
IKKbetaNEMObind	706	743	1.64e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071698
AA Change: Y22*

SMART Domains

Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: Y22*

Domain	Start	End	E-Value	Type
PHB	23	189	1.26e-38	SMART
Blast:PHB	217	253	2e-12	BLAST
low complexity region	254	271	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112028
AA Change: Y22*

SMART Domains

Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: Y22*

Domain	Start	End	E-Value	Type
PHB	23	189	1.26e-38	SMART
Blast:PHB	217	253	2e-12	BLAST
low complexity region	254	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119591

SMART Domains

Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pkinase_Tyr	15	253	9.1e-38	PFAM
Pfam:Pkinase	15	298	8.5e-54	PFAM
Blast:PHB	589	659	8e-39	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168602

Predicted Effect

probably null
Transcript: ENSMUST00000169092
AA Change: Y22*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170577

Predicted Effect

probably null
Transcript: ENSMUST00000170801
AA Change: Y22*

SMART Domains

Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: Y22*

Domain	Start	End	E-Value	Type
PHB	23	189	1.26e-38	SMART
Blast:PHB	217	253	2e-12	BLAST
low complexity region	254	271	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171952
AA Change: Y22*

SMART Domains

Protein: ENSMUSP00000127971
Gene: ENSMUSG00000025198
AA Change: Y22*

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
Blast:PHB	24	66	3e-24	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000172041
AA Change: Y22*

SMART Domains

Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198
AA Change: Y22*

Domain	Start	End	E-Value	Type
PHB	23	158	8.76e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172262

SMART Domains

Protein: ENSMUSP00000126271
Gene: ENSMUSG00000025198

Domain	Start	End	E-Value	Type
Blast:PHB	14	59	4e-16	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,886,756 (GRCm39)	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,594,979 (GRCm39)	D78E	possibly damaging	Het
A2m	C	A	6: 121,634,365 (GRCm39)	D632E	probably benign	Het
Alpk2	A	G	18: 65,440,035 (GRCm39)	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,675 (GRCm39)	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,222,468 (GRCm39)	P92S	probably benign	Het
Cdc34	T	A	10: 79,523,869 (GRCm39)	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,184,997 (GRCm39)	V1151G	probably damaging	Het
Cemip	T	C	7: 83,607,747 (GRCm39)	K753R	probably damaging	Het
Cep295	A	T	9: 15,246,095 (GRCm39)	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,995,727 (GRCm39)	N8S	probably benign	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,335,086 (GRCm39)	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,535,784 (GRCm39)	V171A	probably damaging	Het
Dnah12	C	A	14: 26,494,551 (GRCm39)	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Ep400	T	A	5: 110,881,763 (GRCm39)		probably benign	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2-T15	A	T	17: 36,368,559 (GRCm39)	M123K	probably damaging	Het
Ighv1-66	T	A	12: 115,557,016 (GRCm39)	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 68,993,720 (GRCm39)	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,536,416 (GRCm39)	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,617,471 (GRCm39)		probably benign	Het
Kcnk3	G	T	5: 30,745,730 (GRCm39)	A24S	probably damaging	Het
Kif20a	A	G	18: 34,765,664 (GRCm39)	Y887C	probably damaging	Het
Klf13	T	C	7: 63,587,718 (GRCm39)	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,640,144 (GRCm39)	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,481,159 (GRCm39)	P82A	probably damaging	Het
Llgl1	T	A	11: 60,602,908 (GRCm39)	L861Q	probably damaging	Het
Lpcat2	A	G	8: 93,615,999 (GRCm39)	E305G	probably damaging	Het
Mib2	C	A	4: 155,741,744 (GRCm39)	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,269,766 (GRCm39)	E138G	probably damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ninj1	T	A	13: 49,347,442 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,725,104 (GRCm39)	V54E	possibly damaging	Het
Nlrc5	A	C	8: 95,203,903 (GRCm39)	I668L	probably damaging	Het
Npy6r	T	A	18: 44,409,262 (GRCm39)	C228S	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Nup107	T	C	10: 117,602,273 (GRCm39)	I513M	probably benign	Het
Oit3	T	C	10: 59,261,284 (GRCm39)	D461G	probably damaging	Het
Or2ab1	T	A	11: 58,488,830 (GRCm39)	F205I	probably benign	Het
Paxbp1	T	C	16: 90,831,011 (GRCm39)	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,878,625 (GRCm39)	T727S	probably damaging	Het
Pex14	G	A	4: 149,055,053 (GRCm39)	A113V	probably damaging	Het
Phc3	A	G	3: 31,020,031 (GRCm39)	V23A	possibly damaging	Het
Plec	T	C	15: 76,115,406 (GRCm39)	D56G	possibly damaging	Het
Plekha7	C	A	7: 115,836,768 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,422,140 (GRCm39)	E885G	probably damaging	Het
Prss1l	T	C	6: 41,373,701 (GRCm39)	L188P	probably benign	Het
Psd2	A	G	18: 36,145,881 (GRCm39)	T762A	probably benign	Het
Psme4	T	A	11: 30,784,318 (GRCm39)	H964Q	probably damaging	Het
Rbak	C	T	5: 143,161,878 (GRCm39)	V51I	probably benign	Het
Rbfa	A	G	18: 80,243,721 (GRCm39)	L15P	probably benign	Het
Ren1	T	C	1: 133,282,546 (GRCm39)	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,547,577 (GRCm39)	I311N	probably damaging	Het
Samd14	T	A	11: 94,912,361 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,026,403 (GRCm39)		probably benign	Het
Serpina12	A	T	12: 104,004,611 (GRCm39)	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,384,599 (GRCm39)	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,146,655 (GRCm39)	F382L	probably benign	Het
Snta1	T	A	2: 154,220,035 (GRCm39)	D375V	probably benign	Het
Stat5b	T	A	11: 100,678,064 (GRCm39)	Y683F	probably damaging	Het
Strip1	A	T	3: 107,531,819 (GRCm39)	Y257N	probably benign	Het
Sugp2	A	G	8: 70,704,548 (GRCm39)	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526 (GRCm39)	R3087*	probably null	Het
Syngr2	T	C	11: 117,703,947 (GRCm39)	V138A	probably damaging	Het
Thra	T	C	11: 98,655,310 (GRCm39)	F397L	probably benign	Het
Tmem45b	T	A	9: 31,339,951 (GRCm39)	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,687,553 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,183,995 (GRCm39)	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,774,820 (GRCm39)	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,226,582 (GRCm39)	M419L	probably benign	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp268	T	A	4: 145,343,747 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,995,145 (GRCm39)		probably benign	Het
Zfp568	T	G	7: 29,697,617 (GRCm39)	F100V	probably benign	Het
Zfp667	T	A	7: 6,293,624 (GRCm39)	D41E	possibly damaging	Het

Other mutations in Erlin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Erlin1	APN	19	44,057,758 (GRCm39)	nonsense	probably null
IGL00551:Erlin1	APN	19	44,047,585 (GRCm39)	missense	probably damaging	1.00
IGL01975:Erlin1	APN	19	44,025,370 (GRCm39)	missense	probably damaging	1.00
IGL02171:Erlin1	APN	19	44,037,555 (GRCm39)	splice site	probably benign
IGL02525:Erlin1	APN	19	44,027,634 (GRCm39)	missense	probably benign	0.04
IGL02669:Erlin1	APN	19	44,027,658 (GRCm39)	missense	probably damaging	1.00
IGL02939:Erlin1	APN	19	44,051,491 (GRCm39)	missense	probably damaging	1.00
R1598:Erlin1	UTSW	19	44,036,112 (GRCm39)	missense	probably damaging	1.00
R1911:Erlin1	UTSW	19	44,037,561 (GRCm39)	missense	probably damaging	0.99
R1914:Erlin1	UTSW	19	44,047,504 (GRCm39)	missense	probably damaging	1.00
R1915:Erlin1	UTSW	19	44,047,504 (GRCm39)	missense	probably damaging	1.00
R4153:Erlin1	UTSW	19	44,056,056 (GRCm39)	missense	probably benign	0.11
R4607:Erlin1	UTSW	19	44,051,474 (GRCm39)	missense	probably damaging	1.00
R4633:Erlin1	UTSW	19	44,029,204 (GRCm39)	missense	probably damaging	0.99
R4645:Erlin1	UTSW	19	44,057,759 (GRCm39)	missense	probably damaging	0.99
R4652:Erlin1	UTSW	19	44,029,231 (GRCm39)	nonsense	probably null
R6550:Erlin1	UTSW	19	44,025,602 (GRCm39)	splice site	probably null
R7320:Erlin1	UTSW	19	44,047,504 (GRCm39)	missense	probably damaging	1.00
R8062:Erlin1	UTSW	19	44,044,598 (GRCm39)	missense	probably benign	0.25
R8171:Erlin1	UTSW	19	44,057,768 (GRCm39)	missense	probably benign
R8519:Erlin1	UTSW	19	44,058,041 (GRCm39)	unclassified	probably benign
R9223:Erlin1	UTSW	19	44,029,184 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATGAAACCACTTCCCAGGC -3'
(R):5'- GAAGAGGTGTCACGACGTAC -3'

Sequencing Primer
(F):5'- CCAGGCAGGGCTGGAAG -3'
(R):5'- TGTCACGACGTACGCCGAG -3'

Posted On

2015-09-24