Mutagenetix > Incidental Mutation

Incidental Mutation 'R8332:Erp44'

644420

Institutional Source

Beutler Lab

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

Txndc4, 1110001E24Rik

MMRRC Submission

067728-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R8332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48193323-48279558 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 48243475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030028]

AlphaFold

Q9D1Q6

Predicted Effect

probably null
Transcript: ENSMUST00000030028

SMART Domains

Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:Calsequestrin	29	205	6.4e-12	PFAM
Pfam:Thioredoxin	30	139	1.1e-23	PFAM
Pfam:Thioredoxin_6	167	350	8.6e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit light coat colour, small stature and scaly tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,815,436 (GRCm39)	D228G	probably benign	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ahdc1	A	G	4: 132,791,282 (GRCm39)	D841G	possibly damaging	Het
Alms1	G	A	6: 85,597,561 (GRCm39)	V796I	probably benign	Het
Angptl8	A	T	9: 21,748,137 (GRCm39)		probably null	Het
Arhgap23	A	T	11: 97,381,960 (GRCm39)	S61T	unknown	Het
Bcl9	C	T	3: 97,117,086 (GRCm39)	G536D	possibly damaging	Het
Bscl2	A	G	19: 8,823,594 (GRCm39)	D220G	probably benign	Het
Ccl28	C	A	13: 120,107,514 (GRCm39)	C58*	probably null	Het
Ccr8	A	T	9: 119,923,440 (GRCm39)	Y185F	probably damaging	Het
Chsy3	T	A	18: 59,542,087 (GRCm39)	H408Q	probably damaging	Het
Cntrl	A	G	2: 35,016,037 (GRCm39)	E351G	probably damaging	Het
Cog5	A	T	12: 31,883,222 (GRCm39)	K384*	probably null	Het
Cpne1	T	C	2: 155,920,317 (GRCm39)	T187A	probably benign	Het
Crat	T	A	2: 30,295,084 (GRCm39)	I444F	possibly damaging	Het
Crb1	T	A	1: 139,165,152 (GRCm39)	M1052L	probably damaging	Het
Cstdc1	A	G	2: 148,625,377 (GRCm39)	K104E	probably damaging	Het
Flad1	G	T	3: 89,314,828 (GRCm39)	Q290K	probably benign	Het
Gata3os	G	A	2: 9,887,650 (GRCm39)	R17H	unknown	Het
Gli3	G	T	13: 15,888,133 (GRCm39)	R516L	possibly damaging	Het
Gm19402	A	T	10: 77,526,048 (GRCm39)	C182S	unknown	Het
Herc2	T	C	7: 55,796,343 (GRCm39)	I1905T	probably damaging	Het
Ikbkb	A	T	8: 23,155,641 (GRCm39)	V617D	possibly damaging	Het
Intu	A	G	3: 40,629,719 (GRCm39)	I350V	probably benign	Het
Limd1	A	G	9: 123,308,319 (GRCm39)	D6G	probably damaging	Het
Llgl1	A	G	11: 60,601,210 (GRCm39)	D716G	possibly damaging	Het
Lrp1	G	A	10: 127,407,805 (GRCm39)	T1828I	probably damaging	Het
Or2at1	T	C	7: 99,417,334 (GRCm39)	*322Q	probably null	Het
Or6c38	A	G	10: 128,929,174 (GRCm39)	I223T	possibly damaging	Het
Piezo2	A	T	18: 63,145,857 (GRCm39)	I2689N	possibly damaging	Het
Prag1	T	C	8: 36,613,457 (GRCm39)	I1003T	probably damaging	Het
Rbm8a2	T	C	1: 175,805,967 (GRCm39)	D170G	unknown	Het
Rnf213	A	C	11: 119,374,524 (GRCm39)	Q5027P		Het
Robo1	T	C	16: 72,775,466 (GRCm39)	Y664H	probably damaging	Het
Rrn3	T	A	16: 13,616,484 (GRCm39)	D287E	possibly damaging	Het
Slc22a16	G	A	10: 40,449,741 (GRCm39)	R80Q	possibly damaging	Het
Slc4a4	A	T	5: 89,327,680 (GRCm39)	T706S	probably benign	Het
Srek1ip1	A	T	13: 104,970,757 (GRCm39)	R69S	possibly damaging	Het
St3gal5	T	A	6: 72,119,165 (GRCm39)	C119*	probably null	Het
T2	A	G	17: 8,609,784 (GRCm39)	M78V	probably null	Het
Taok1	A	T	11: 77,432,545 (GRCm39)	V756D	possibly damaging	Het
Tecta	C	T	9: 42,286,310 (GRCm39)	G782D	probably damaging	Het
Thbs2	G	A	17: 14,900,032 (GRCm39)	P615L	probably damaging	Het
Ttll11	T	A	2: 35,830,721 (GRCm39)	I217F	possibly damaging	Het
Vmn2r57	C	T	7: 41,049,677 (GRCm39)	V691M	probably benign	Het
Xkr4	T	C	1: 3,492,122 (GRCm39)	Y267C	probably damaging	Het
Zfp59	A	G	7: 27,552,971 (GRCm39)	D141G	probably benign	Het
Zfp760	A	G	17: 21,942,301 (GRCm39)	E492G	probably damaging	Het

Other mutations in Erp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Erp44	APN	4	48,218,126 (GRCm39)	missense	probably benign	0.22
IGL02057:Erp44	APN	4	48,236,964 (GRCm39)	missense	probably benign	0.05
IGL03165:Erp44	APN	4	48,236,872 (GRCm39)	critical splice donor site	probably null
IGL03253:Erp44	APN	4	48,208,750 (GRCm39)	missense	probably benign	0.09
R0033:Erp44	UTSW	4	48,241,289 (GRCm39)	splice site	probably benign
R0033:Erp44	UTSW	4	48,241,289 (GRCm39)	splice site	probably benign
R4976:Erp44	UTSW	4	48,208,797 (GRCm39)	missense	probably benign	0.01
R5024:Erp44	UTSW	4	48,241,296 (GRCm39)	nonsense	probably null
R5175:Erp44	UTSW	4	48,196,823 (GRCm39)	missense	probably benign	0.41
R5224:Erp44	UTSW	4	48,279,435 (GRCm39)	missense	probably benign
R5359:Erp44	UTSW	4	48,211,704 (GRCm39)	missense	probably benign
R6128:Erp44	UTSW	4	48,243,493 (GRCm39)	missense	probably damaging	0.98
R6248:Erp44	UTSW	4	48,219,479 (GRCm39)	nonsense	probably null
R6649:Erp44	UTSW	4	48,205,130 (GRCm39)	missense	probably null	0.01
R6653:Erp44	UTSW	4	48,205,130 (GRCm39)	missense	probably null	0.01
R6911:Erp44	UTSW	4	48,204,268 (GRCm39)	missense	probably benign	0.17
R7061:Erp44	UTSW	4	48,219,375 (GRCm39)	missense	probably benign
R7209:Erp44	UTSW	4	48,211,704 (GRCm39)	missense	probably benign
R7291:Erp44	UTSW	4	48,208,792 (GRCm39)	missense	probably damaging	1.00
R7369:Erp44	UTSW	4	48,218,183 (GRCm39)	missense	probably benign
R7703:Erp44	UTSW	4	48,196,904 (GRCm39)	missense	probably benign	0.09
R7785:Erp44	UTSW	4	48,243,531 (GRCm39)	missense	probably benign	0.04
R7992:Erp44	UTSW	4	48,218,136 (GRCm39)	missense	possibly damaging	0.57
R8213:Erp44	UTSW	4	48,208,783 (GRCm39)	missense	probably benign	0.03
R9509:Erp44	UTSW	4	48,208,750 (GRCm39)	missense	probably benign	0.00
R9580:Erp44	UTSW	4	48,218,187 (GRCm39)	nonsense	probably null
R9647:Erp44	UTSW	4	48,205,166 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GACACCTCATGCACTGTCAG -3'
(R):5'- TCAGCACTTTCAGAATGGCTG -3'

Sequencing Primer
(F):5'- CTCATGCACTGTCAGAAATGCTATC -3'
(R):5'- ACCAATTTTTAGGCTGGGGAAG -3'

Posted On

2020-09-02