Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Erlin1'

658567

Institutional Source

Beutler Lab

Gene Symbol

Erlin1

Ensembl Gene

ENSMUSG00000025198

Gene Name

ER lipid raft associated 1

Synonyms

Spfh1, Keo4, 2810439N09Rik

MMRRC Submission

067946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8519 (G1)

Quality Score

109.008

Status

Validated

Chromosome

Chromosomal Location

44023383-44058224 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 44058041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000071698

SMART Domains

Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198

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: ENSMUST00000112028

SMART Domains

Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198

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

probably benign
Transcript: ENSMUST00000169092

Predicted Effect

probably benign
Transcript: ENSMUST00000170801

SMART Domains

Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198

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: ENSMUST00000171952

SMART Domains

Protein: ENSMUSP00000127971
Gene: ENSMUSG00000025198

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172041

SMART Domains

Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,038,619 (GRCm39)	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,075,610 (GRCm39)	W1156*	probably null	Het
Adcy9	T	C	16: 4,105,992 (GRCm39)	I1041V	possibly damaging	Het
Armh4	T	C	14: 50,010,693 (GRCm39)	D338G	probably damaging	Het
Art4	C	A	6: 136,831,349 (GRCm39)		probably null	Het
Bcl9	A	G	3: 97,116,334 (GRCm39)	S787P	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,627,597 (GRCm39)	N76S	probably damaging	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cldn10	T	G	14: 119,092,439 (GRCm39)	V13G	probably benign	Het
Cnot6	G	T	11: 49,575,941 (GRCm39)	Q178K	probably benign	Het
Crot	T	C	5: 9,023,629 (GRCm39)	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,854,105 (GRCm39)	H232L	possibly damaging	Het
Cuzd1	T	C	7: 130,910,626 (GRCm39)	I556M	possibly damaging	Het
Cyp2c54	G	A	19: 40,026,857 (GRCm39)	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,207,539 (GRCm39)	F259L	probably benign	Het
Dhx9	C	T	1: 153,348,922 (GRCm39)	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,245 (GRCm39)	V1536M	probably benign	Het
Foxb2	C	A	19: 16,850,347 (GRCm39)	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,338,431 (GRCm39)	T388S	probably benign	Het
Gimap5	T	C	6: 48,730,068 (GRCm39)	C213R	probably benign	Het
Gkap1	T	G	13: 58,386,506 (GRCm39)	K57N	probably damaging	Het
H60b	T	G	10: 22,159,421 (GRCm39)		probably benign	Het
Hectd4	C	T	5: 121,442,489 (GRCm39)	R670*	probably null	Het
Hoxc9	A	G	15: 102,892,341 (GRCm39)	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,098,766 (GRCm39)	E105G	possibly damaging	Het
Klk10	T	A	7: 43,432,239 (GRCm39)	Y57*	probably null	Het
Lrrc63	A	T	14: 75,363,312 (GRCm39)	I273K	possibly damaging	Het
M6pr	T	C	6: 122,292,025 (GRCm39)	I119T	probably damaging	Het
Mael	T	C	1: 166,063,127 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,681,330 (GRCm39)	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,044,061 (GRCm39)	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,547,920 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,238,132 (GRCm39)	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,527,736 (GRCm39)	V164A	probably benign	Het
Mynn	C	A	3: 30,661,290 (GRCm39)	P124H	probably damaging	Het
Or11l3	T	G	11: 58,516,800 (GRCm39)	Q23P	probably damaging	Het
Or14n1-ps1	A	T	7: 86,093,062 (GRCm39)	N291I	probably damaging	Het
Or2k2	A	G	4: 58,785,203 (GRCm39)	I173T	probably damaging	Het
Or2t48	A	G	11: 58,420,329 (GRCm39)	F161S	possibly damaging	Het
Or6k2	A	G	1: 173,986,614 (GRCm39)	I92V	probably damaging	Het
Pcif1	A	G	2: 164,726,303 (GRCm39)	N68S	probably damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Het
Pira1	T	C	7: 3,740,432 (GRCm39)	Q263R	probably benign	Het
Plxna2	T	A	1: 194,476,266 (GRCm39)	I1162N	probably damaging	Het
Pnp2	T	A	14: 51,201,842 (GRCm39)	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,902,526 (GRCm39)	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,540,678 (GRCm39)	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,285,052 (GRCm39)	F187L	probably benign	Het
Smg1	T	C	7: 117,770,982 (GRCm39)		probably benign	Het
Spmip6	A	G	4: 41,505,071 (GRCm39)	S214P	possibly damaging	Het
Spopfm2	T	C	3: 94,083,497 (GRCm39)	M105V	probably benign	Het
Stn1	T	C	19: 47,490,111 (GRCm39)	H342R	probably benign	Het
Sult1c2	A	T	17: 54,276,709 (GRCm39)	H117Q	probably damaging	Het
Thap1	G	A	8: 26,650,925 (GRCm39)	R42K	probably damaging	Het
Tpp2	A	T	1: 44,016,365 (GRCm39)		probably null	Het
Trib2	G	T	12: 15,865,347 (GRCm39)	P76Q	probably damaging	Het
Ttc24	G	T	3: 87,980,369 (GRCm39)	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,143,958 (GRCm39)	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,215,724 (GRCm39)		probably null	Het
Ugt2b1	A	G	5: 87,074,326 (GRCm39)	L11S	probably damaging	Het
Uso1	T	G	5: 92,343,222 (GRCm39)	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,698,442 (GRCm39)	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,489,347 (GRCm39)	L497F	probably benign	Het
Vsig10l	G	A	7: 43,114,326 (GRCm39)	S318N	probably benign	Het
Wbp4	A	G	14: 79,714,263 (GRCm39)	L83P	probably damaging	Het
Wnk1	G	A	6: 119,927,044 (GRCm39)	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,272,176 (GRCm39)	V198M	probably damaging	Het
Zfp1004	A	G	2: 150,034,700 (GRCm39)	I340M	probably benign	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
R4584:Erlin1	UTSW	19	44,057,758 (GRCm39)	nonsense	probably null
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
R9223:Erlin1	UTSW	19	44,029,184 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGTCCGTTGAGTGACAGG -3'
(R):5'- AATCACTACACTGTGCGCG -3'

Sequencing Primer
(F):5'- TTGAGTGACAGGCCAGTCC -3'
(R):5'- ACCCGGGGCCAATTTTGTC -3'

Posted On

2021-01-18