Mutagenetix > Incidental Mutation

Incidental Mutation 'R6653:Erp44'

526501

Institutional Source

Beutler Lab

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

Txndc4, 1110001E24Rik

MMRRC Submission

044774-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R6653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48193323-48279558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48205130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 288 (I288V)

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

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

AlphaFold

Q9D1Q6

Predicted Effect

probably null
Transcript: ENSMUST00000030028
AA Change: I288V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: I288V

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,945,229 (GRCm39)	L435R	probably benign	Het
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Ankrd50	T	A	3: 38,511,510 (GRCm39)	I286F	probably damaging	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
B4galnt2	T	A	11: 95,782,747 (GRCm39)	M22L	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh4	C	T	2: 179,422,221 (GRCm39)	A115V	probably benign	Het
Cfap53	A	G	18: 74,433,280 (GRCm39)	T122A	probably damaging	Het
Chsy1	A	G	7: 65,759,941 (GRCm39)	K95E	probably benign	Het
Csde1	C	A	3: 102,960,184 (GRCm39)	P604T	probably damaging	Het
Cts7	A	T	13: 61,502,817 (GRCm39)	L237Q	probably damaging	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eif2b4	C	T	5: 31,349,551 (GRCm39)	E53K	possibly damaging	Het
Fcamr	A	G	1: 130,740,939 (GRCm39)	T453A	possibly damaging	Het
Glb1l3	T	C	9: 26,770,884 (GRCm39)	T61A	probably benign	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hephl1	C	T	9: 14,993,260 (GRCm39)	V525I	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kbtbd4	T	A	2: 90,740,113 (GRCm39)	Y499*	probably null	Het
Kif1a	A	T	1: 93,005,420 (GRCm39)	I118N	probably damaging	Het
Klhdc7b	A	G	15: 89,271,292 (GRCm39)	S725G	probably benign	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Myo7a	T	A	7: 97,703,710 (GRCm39)	Y1977F	probably damaging	Het
Naip2	T	G	13: 100,298,352 (GRCm39)	K561N	probably benign	Het
Naip2	C	T	13: 100,288,644 (GRCm39)	V1194I	probably benign	Het
Nkx2-4	G	T	2: 146,925,860 (GRCm39)	A334E	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Pcdha7	A	G	18: 37,107,539 (GRCm39)	Q188R	probably benign	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phip	C	A	9: 82,782,794 (GRCm39)	E884*	probably null	Het
Plxnc1	C	A	10: 94,779,738 (GRCm39)	V235L	probably damaging	Het
Qser1	A	G	2: 104,610,605 (GRCm39)	V1226A	possibly damaging	Het
Ros1	G	T	10: 52,018,299 (GRCm39)	S786R	probably damaging	Het
Rps6ka5	A	G	12: 100,517,795 (GRCm39)	S769P	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Specc1	T	G	11: 62,037,244 (GRCm39)	S813A	probably damaging	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Tmem44	T	C	16: 30,356,369 (GRCm39)	D110G	probably damaging	Het
Ubn2	A	G	6: 38,411,397 (GRCm39)	E97G	possibly damaging	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Usp25	T	A	16: 76,856,176 (GRCm39)	N256K	probably benign	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Wnt2b	C	A	3: 104,860,502 (GRCm39)	R135L	probably damaging	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	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
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
R8332:Erp44	UTSW	4	48,243,475 (GRCm39)	critical splice donor site	probably null
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'- ATTACAGTTCGCCCAGAAGCC -3'
(R):5'- GTTGTATGAATTGAGTCCACACTTG -3'

Sequencing Primer
(F):5'- AGAAGCCCGCTCTTCATG -3'
(R):5'- ATGAATTGAGTCCACACTTGTTCCAC -3'

Posted On

2018-07-23