Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Erp27'

289355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erp27

Ensembl Gene

ENSMUSG00000030219

Gene Name

endoplasmic reticulum protein 27

Synonyms

1810047B09Rik, 1810033M07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

136884309-136899178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136888544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

Ref Sequence

ENSEMBL: ENSMUSP00000032343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032343]

AlphaFold

Q9D8U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032343
AA Change: T145A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: T145A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Pfam:Thioredoxin_6	64	251	2.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162243

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	Het

Other mutations in Erp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Erp27	APN	6	136,886,500 (GRCm39)	missense	probably damaging	1.00
IGL01976:Erp27	APN	6	136,896,987 (GRCm39)	missense	probably damaging	0.99
R0452:Erp27	UTSW	6	136,886,487 (GRCm39)	missense	probably damaging	1.00
R0498:Erp27	UTSW	6	136,896,862 (GRCm39)	unclassified	probably benign
R2055:Erp27	UTSW	6	136,885,227 (GRCm39)	splice site	probably benign
R3777:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R3778:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R4603:Erp27	UTSW	6	136,896,947 (GRCm39)	missense	probably damaging	0.98
R4667:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R4668:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R5753:Erp27	UTSW	6	136,896,875 (GRCm39)	missense	probably damaging	1.00
R5814:Erp27	UTSW	6	136,888,564 (GRCm39)	missense	possibly damaging	0.48
R5864:Erp27	UTSW	6	136,885,098 (GRCm39)	missense	probably benign	0.09
R6029:Erp27	UTSW	6	136,888,609 (GRCm39)	missense	probably damaging	0.98
R6131:Erp27	UTSW	6	136,885,201 (GRCm39)	missense	probably damaging	1.00
R7974:Erp27	UTSW	6	136,885,063 (GRCm39)	missense	probably damaging	1.00
R8781:Erp27	UTSW	6	136,886,458 (GRCm39)	nonsense	probably null
R9339:Erp27	UTSW	6	136,896,945 (GRCm39)	missense	probably benign	0.01
R9485:Erp27	UTSW	6	136,886,548 (GRCm39)	missense	possibly damaging	0.61
R9516:Erp27	UTSW	6	136,885,066 (GRCm39)	missense	probably benign	0.00
R9526:Erp27	UTSW	6	136,886,550 (GRCm39)	missense	probably benign	0.43
Z1177:Erp27	UTSW	6	136,888,644 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16