Mutagenetix > Incidental Mutation

Incidental Mutation 'R4633:Erlin1'

349390

Institutional Source

Beutler Lab

Gene Symbol

Erlin1

Ensembl Gene

ENSMUSG00000025198

Gene Name

ER lipid raft associated 1

Synonyms

Spfh1, Keo4, 2810439N09Rik

MMRRC Submission

041898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44023383-44058224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44029204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 243 (R243C)

Ref Sequence

ENSEMBL: ENSMUSP00000129684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000170801]

AlphaFold

Q91X78

Predicted Effect

probably damaging
Transcript: ENSMUST00000071698
AA Change: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: R243C

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 damaging
Transcript: ENSMUST00000112028
AA Change: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: R243C

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 damaging
Transcript: ENSMUST00000170801
AA Change: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: R243C

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

Meta Mutation Damage Score

0.2865

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,606,503 (GRCm39)	L786Q	probably null	Het
Abcb6	A	T	1: 75,154,426 (GRCm39)		probably benign	Het
Alg10b	T	C	15: 90,112,497 (GRCm39)	V447A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
B4galt7	A	G	13: 55,756,563 (GRCm39)	H203R	probably damaging	Het
Cd44	T	G	2: 102,683,392 (GRCm39)	D214A	possibly damaging	Het
Ces1c	T	C	8: 93,845,014 (GRCm39)	D275G	probably benign	Het
Cnot11	G	T	1: 39,575,299 (GRCm39)	W127L	probably benign	Het
Csmd1	A	G	8: 16,052,620 (GRCm39)	I2168T	probably damaging	Het
Cyp3a59	T	C	5: 146,031,248 (GRCm39)	F137S	probably damaging	Het
Dst	T	A	1: 34,209,515 (GRCm39)	L1234Q	probably damaging	Het
Erbb2	T	A	11: 98,323,814 (GRCm39)	I676N	possibly damaging	Het
Fanci	T	C	7: 79,076,990 (GRCm39)	L576P	probably damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Glg1	C	T	8: 111,904,276 (GRCm39)		probably null	Het
Gpr139	A	T	7: 118,743,628 (GRCm39)	I319N	probably damaging	Het
Hectd4	C	A	5: 121,487,279 (GRCm39)	H3425N	probably benign	Het
Itga10	A	G	3: 96,555,020 (GRCm39)	D118G	possibly damaging	Het
Klra13-ps	T	G	6: 130,268,136 (GRCm39)		noncoding transcript	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt5	T	A	15: 101,620,042 (GRCm39)	D225V	probably damaging	Het
Krtap4-9	G	T	11: 99,676,380 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,105,579 (GRCm39)	A2029E	probably damaging	Het
Lrp2	T	A	2: 69,291,761 (GRCm39)	T3473S	probably benign	Het
Lrrc37	A	T	11: 103,509,957 (GRCm39)		probably benign	Het
Lrriq1	G	A	10: 103,036,424 (GRCm39)	R910*	probably null	Het
Map1b	C	T	13: 99,571,450 (GRCm39)	V424M	probably damaging	Het
Mrtfb	T	C	16: 13,197,737 (GRCm39)	I85T	possibly damaging	Het
Mylk2	T	C	2: 152,759,335 (GRCm39)	S369P	probably benign	Het
Myom3	T	G	4: 135,503,010 (GRCm39)	F362L	probably benign	Het
Nomo1	A	G	7: 45,699,684 (GRCm39)		probably benign	Het
Or10s1	T	A	9: 39,985,630 (GRCm39)	V13E	probably damaging	Het
Or1p1	T	G	11: 74,180,120 (GRCm39)	M216R	probably benign	Het
Or2l13b	C	T	16: 19,349,034 (GRCm39)	G212D	possibly damaging	Het
Or2w4	A	G	13: 21,795,398 (GRCm39)	V247A	probably damaging	Het
Parp4	C	T	14: 56,885,048 (GRCm39)	L1376F	unknown	Het
Phykpl	C	A	11: 51,484,435 (GRCm39)	A208E	probably damaging	Het
Pla2g15	T	C	8: 106,886,887 (GRCm39)	F126S	probably damaging	Het
Polq	T	G	16: 36,868,904 (GRCm39)	M479R	probably damaging	Het
Prpf4b	A	G	13: 35,084,425 (GRCm39)	T938A	probably damaging	Het
Psma1	A	G	7: 113,870,369 (GRCm39)	M63T	probably damaging	Het
Rbpms2	T	C	9: 65,558,918 (GRCm39)	S174P	probably benign	Het
Rcc1	G	T	4: 132,063,080 (GRCm39)	S162R	probably damaging	Het
Rev3l	T	G	10: 39,722,182 (GRCm39)	L2520R	probably damaging	Het
Rhobtb1	T	A	10: 69,085,443 (GRCm39)		probably null	Het
Rps19	G	T	7: 24,588,595 (GRCm39)		probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenof	C	T	3: 144,302,622 (GRCm39)	R116*	probably null	Het
Slc16a11	T	C	11: 70,107,205 (GRCm39)		probably null	Het
Stk3	A	G	15: 34,959,074 (GRCm39)	V296A	probably damaging	Het
Taar8b	C	A	10: 23,968,150 (GRCm39)	E15*	probably null	Het
Tas2r102	T	A	6: 132,739,642 (GRCm39)	N183K	possibly damaging	Het
Tet2	T	A	3: 133,191,310 (GRCm39)	E1041D	probably benign	Het
Tm9sf1	A	G	14: 55,878,660 (GRCm39)	V244A	probably damaging	Het
Trgc4	G	T	13: 19,536,457 (GRCm39)	V172F	probably benign	Het
Trim24	T	A	6: 37,933,371 (GRCm39)	I650K	probably damaging	Het
Trim59	G	T	3: 68,944,747 (GRCm39)	Q198K	probably benign	Het
Ttc28	C	T	5: 111,371,867 (GRCm39)	T772I	probably damaging	Het
Tvp23a	C	T	16: 10,244,909 (GRCm39)	V146M	probably benign	Het
Usp17la	A	T	7: 104,509,428 (GRCm39)	D11V	possibly damaging	Het
Usp48	A	G	4: 137,362,211 (GRCm39)	K32R	probably damaging	Het
Uspl1	A	G	5: 149,151,202 (GRCm39)	K801E	probably damaging	Het
Utp20	T	C	10: 88,588,814 (GRCm39)	I2452V	probably benign	Het
Vps18	T	C	2: 119,123,757 (GRCm39)	L228P	probably damaging	Het
Yju2b	T	C	8: 84,987,024 (GRCm39)	T158A	probably benign	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp872	G	T	9: 22,108,490 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,768,891 (GRCm39)	E1110G	probably 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
R4584:Erlin1	UTSW	19	44,057,758 (GRCm39)	nonsense	probably null
R4607:Erlin1	UTSW	19	44,051,474 (GRCm39)	missense	probably damaging	1.00
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'- AGCACATGCCTAAAAGCTTTTC -3'
(R):5'- CCTCTCAATCGTTTCAGAACAG -3'

Sequencing Primer
(F):5'- AACTATCACATGGGTCTGCG -3'
(R):5'- CGTTTCAGAACAGATAAAACCTTGG -3'

Posted On

2015-10-08