Mutagenetix > Incidental Mutation

Incidental Mutation 'R4711:Erp29'

353263

Institutional Source

Beutler Lab

Gene Symbol

Erp29

Ensembl Gene

ENSMUSG00000029616

Gene Name

endoplasmic reticulum protein 29

Synonyms

Erp28, 1200015M03Rik, 2810446M09Rik, PDI-Db, Erp31

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R4711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121582816-121590537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121583293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 211 (I211T)

Ref Sequence

ENSEMBL: ENSMUSP00000117347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042163] [ENSMUST00000052590] [ENSMUST00000111802] [ENSMUST00000130451] [ENSMUST00000153758]

AlphaFold

P57759

Predicted Effect

probably benign
Transcript: ENSMUST00000042163

SMART Domains

Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
Pfam:NatB_MDM20	263	658	1.6e-121	PFAM
low complexity region	672	683	N/A	INTRINSIC
low complexity region	687	700	N/A	INTRINSIC
low complexity region	721	734	N/A	INTRINSIC
low complexity region	915	935	N/A	INTRINSIC
low complexity region	958	971	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052590

SMART Domains

Protein: ENSMUSP00000059275
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	52	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111802

SMART Domains

Protein: ENSMUSP00000107433
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	50	5e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130451
AA Change: I211T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117347
Gene: ENSMUSG00000029616
AA Change: I211T

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:ERp29_N	35	157	9.3e-61	PFAM
Pfam:ERp29	158	252	7.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153758

SMART Domains

Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	55	3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172908

SMART Domains

Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174322

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Bin3	A	G	14: 70,366,288 (GRCm39)		probably null	Het
Ccser1	A	G	6: 61,288,910 (GRCm39)	N358D	possibly damaging	Het
Col20a1	G	C	2: 180,634,284 (GRCm39)	G83A	probably damaging	Het
Copa	T	G	1: 171,947,555 (GRCm39)	F1124V	probably damaging	Het
Cyp2c66	G	A	19: 39,151,843 (GRCm39)	R186H	possibly damaging	Het
Dmxl2	G	A	9: 54,358,208 (GRCm39)	T323M	probably benign	Het
Dner	T	C	1: 84,361,618 (GRCm39)	I664V	possibly damaging	Het
Exd1	A	G	2: 119,369,232 (GRCm39)	S128P	possibly damaging	Het
Grik4	T	A	9: 42,540,389 (GRCm39)	N264Y	probably damaging	Het
Gsdma2	T	A	11: 98,540,439 (GRCm39)	S119R	probably damaging	Het
H2ac1	C	T	13: 24,118,796 (GRCm39)	P118S	possibly damaging	Het
Ift140	T	A	17: 25,313,691 (GRCm39)		probably null	Het
Ino80c	T	C	18: 24,247,222 (GRCm39)	N59S	probably benign	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mast4	A	G	13: 103,470,627 (GRCm39)	V25A	probably benign	Het
Mr1	T	C	1: 155,012,336 (GRCm39)	T193A	probably benign	Het
Muc5b	C	A	7: 141,399,770 (GRCm39)	F414L	unknown	Het
Nat10	A	T	2: 103,578,612 (GRCm39)	C197*	probably null	Het
Nt5c1b	A	G	12: 10,420,093 (GRCm39)	K11E	probably damaging	Het
Or5k8	A	T	16: 58,645,069 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,370 (GRCm39)	I173V	probably damaging	Het
Pak5	A	G	2: 135,929,437 (GRCm39)	I582T	probably damaging	Het
Pcdha12	A	G	18: 37,153,976 (GRCm39)	I232V	probably benign	Het
Pde8b	T	A	13: 95,166,958 (GRCm39)	T664S	probably benign	Het
Pdik1l	G	C	4: 134,006,301 (GRCm39)	R214G	probably benign	Het
Prss37	C	T	6: 40,492,381 (GRCm39)	V157M	probably benign	Het
Psma5-ps	A	G	10: 85,149,667 (GRCm39)		noncoding transcript	Het
Ring1	T	C	17: 34,241,333 (GRCm39)	E261G	possibly damaging	Het
Sf3a3	C	A	4: 124,621,974 (GRCm39)	D371E	probably benign	Het
Spag9	T	A	11: 94,005,177 (GRCm39)		probably null	Het
Spred1	T	A	2: 117,005,866 (GRCm39)	S209R	probably benign	Het
Tas2r121	T	C	6: 132,677,853 (GRCm39)	T40A	probably benign	Het
Tbc1d5	T	C	17: 51,242,537 (GRCm39)	T187A	probably damaging	Het
Tenm2	C	T	11: 36,191,039 (GRCm39)	V311I	probably damaging	Het
Thoc2l	T	C	5: 104,667,527 (GRCm39)	V683A	probably damaging	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Trappc14	T	C	5: 138,261,167 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,660,404 (GRCm39)	A7439V	possibly damaging	Het
Wdr64	T	C	1: 175,626,795 (GRCm39)	I838T	probably damaging	Het
Wdr7	A	G	18: 63,861,536 (GRCm39)	T183A	probably benign	Het

Other mutations in Erp29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Erp29	APN	5	121,590,305 (GRCm39)	missense	probably benign	0.00
R4094:Erp29	UTSW	5	121,590,345 (GRCm39)	unclassified	probably benign
R4792:Erp29	UTSW	5	121,585,237 (GRCm39)	missense	probably benign	0.01
R7107:Erp29	UTSW	5	121,583,381 (GRCm39)	missense	possibly damaging	0.49
R7312:Erp29	UTSW	5	121,583,392 (GRCm39)	missense	probably benign	0.01
R9161:Erp29	UTSW	5	121,583,146 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTGTGCTTGGTCACAGCTC -3'
(R):5'- CTGTACAATGGGGCAGTTAAGG -3'

Sequencing Primer
(F):5'- GGTCACAGCTCCTCCTTCTCAG -3'
(R):5'- CAGTTAAGGTTGGAGCCATCC -3'

Posted On

2015-10-21