Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Erlin1'

210330

Institutional Source

Beutler Lab

Gene Symbol

Erlin1

Ensembl Gene

ENSMUSG00000025198

Gene Name

ER lipid raft associated 1

Synonyms

Spfh1, Keo4, 2810439N09Rik

MMRRC Submission

039929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44023383-44058224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44037561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 188 (M188T)

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: M188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: M188T

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: M188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: M188T

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: M188T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: M188T

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

0.3379

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,927,050 (GRCm39)		probably benign	Het
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,925,483 (GRCm39)	E82G	probably benign	Het
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Adam19	T	C	11: 46,012,281 (GRCm39)	V259A	probably damaging	Het
Adss1	T	C	12: 112,599,443 (GRCm39)	V140A	probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Ank1	T	C	8: 23,589,666 (GRCm39)	V589A	probably damaging	Het
Ano2	G	A	6: 125,990,654 (GRCm39)	D803N	probably benign	Het
Arid1b	A	G	17: 5,393,241 (GRCm39)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,550,138 (GRCm39)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Aspm	T	A	1: 139,405,832 (GRCm39)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,229,863 (GRCm39)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,079,113 (GRCm39)	G9*	probably null	Het
Btaf1	A	G	19: 36,964,030 (GRCm39)	Q867R	probably benign	Het
Calhm3	C	T	19: 47,143,908 (GRCm39)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,530,539 (GRCm39)	I401F	possibly damaging	Het
Cdcp3	T	C	7: 130,839,818 (GRCm39)	V580A	probably damaging	Het
Cecr2	T	A	6: 120,739,526 (GRCm39)		probably benign	Het
Cep104	G	A	4: 154,091,255 (GRCm39)	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,682,104 (GRCm39)	M1900L	probably benign	Het
Crybg1	A	G	10: 43,873,673 (GRCm39)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,399 (GRCm39)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,796,368 (GRCm39)	L798P	probably damaging	Het
Dmxl1	T	C	18: 50,011,230 (GRCm39)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,406,578 (GRCm39)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,601,029 (GRCm39)	M988K	probably damaging	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Endov	T	C	11: 119,393,177 (GRCm39)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,663,625 (GRCm39)	Y477C	probably damaging	Het
Fhip1a	T	A	3: 85,568,525 (GRCm39)	D998V	probably benign	Het
Fhod3	A	T	18: 25,245,643 (GRCm39)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,742,646 (GRCm39)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Grk1	C	A	8: 13,457,923 (GRCm39)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,699,621 (GRCm39)	A269V	probably benign	Het
Krt33a	T	A	11: 99,903,175 (GRCm39)	Q289L	probably benign	Het
Krt76	T	A	15: 101,796,600 (GRCm39)	K403*	probably null	Het
Lcn4	T	C	2: 26,560,607 (GRCm39)		probably benign	Het
Mab21l1	T	C	3: 55,691,048 (GRCm39)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 25,123,025 (GRCm39)	D610E	probably benign	Het
Mastl	G	T	2: 23,022,692 (GRCm39)	S677*	probably null	Het
Mfap3	T	C	11: 57,420,562 (GRCm39)	F181S	probably damaging	Het
Mlkl	T	C	8: 112,038,732 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,876 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,350,041 (GRCm39)	F595L	probably benign	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nit2	G	A	16: 56,982,046 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,921,425 (GRCm39)	V298M	probably damaging	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Or4c111	A	G	2: 88,843,565 (GRCm39)	L281P	probably damaging	Het
Or52b1	T	A	7: 104,978,590 (GRCm39)	I270F	probably benign	Het
Or6c210	A	T	10: 129,495,981 (GRCm39)	D102V	probably benign	Het
Or7g12	T	C	9: 18,900,196 (GRCm39)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,243,662 (GRCm39)	R864L	probably benign	Het
Pcnt	G	A	10: 76,204,650 (GRCm39)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,634,174 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,326,548 (GRCm39)	I341V	probably damaging	Het
Pramel32	T	C	4: 88,548,309 (GRCm39)	Q32R	possibly damaging	Het
Prune2	T	A	19: 17,091,038 (GRCm39)	F281I	probably benign	Het
Psg19	T	G	7: 18,528,193 (GRCm39)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,765,658 (GRCm39)	S587A	probably benign	Het
Ptpro	T	C	6: 137,377,617 (GRCm39)		probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rasgrp4	T	C	7: 28,838,302 (GRCm39)	V92A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,398,867 (GRCm39)	A68V	probably damaging	Het
Robo2	A	T	16: 73,755,213 (GRCm39)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,187,237 (GRCm39)	V278I	probably benign	Het
Sidt1	A	G	16: 44,102,234 (GRCm39)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,599,246 (GRCm39)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,530,367 (GRCm39)	R690H	probably damaging	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,616 (GRCm39)	Y129*	probably null	Het
Srcap	T	C	7: 127,133,994 (GRCm39)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,140,383 (GRCm39)	S185A	probably damaging	Het
Sult6b1	G	A	17: 79,196,393 (GRCm39)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,937,979 (GRCm39)	N1023T	probably benign	Het
Tecta	C	T	9: 42,249,232 (GRCm39)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tex14	T	A	11: 87,385,861 (GRCm39)	D240E	probably damaging	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,910,104 (GRCm39)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,118,367 (GRCm39)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,592,374 (GRCm39)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,069,070 (GRCm39)	K304R	probably benign	Het
Ttc28	G	T	5: 111,428,616 (GRCm39)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 31,211,128 (GRCm39)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,461,001 (GRCm39)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,655,671 (GRCm39)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,024,236 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,137 (GRCm39)	M1079T	possibly damaging	Het
Znrf1	T	C	8: 112,348,233 (GRCm39)	*41Q	probably null	Het
Znrf1	T	C	8: 112,348,244 (GRCm39)	F183L	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
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
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'- CTCTGAGTGCTGCTCTGAAAATG -3'
(R):5'- AGCCCACAGTGACCTTGAAC -3'

Sequencing Primer
(F):5'- GTGCTGCTCTGAAAATGCCCATAC -3'
(R):5'- TGAACTCCCATCTGATTGACTAG -3'

Posted On

2014-06-30