Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03165:Erp44'

411614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

1110001E24Rik, Txndc4

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

48193323-48279558 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 48236872 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148947

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 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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232		probably benign	Het
Ctnna3	A	G	10: 64,945,941	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628	Y349*	probably null	Het
Flg2	C	T	3: 93,214,611	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305		probably benign	Het
Kdm7a	C	A	6: 39,170,914		probably benign	Het
Olfr1040	A	C	2: 86,146,068	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060		probably null	Het
Pdlim3	T	A	8: 45,918,998	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polk	T	A	13: 96,516,688	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281		probably benign	Het
Rbm12b1	A	G	4: 12,145,845	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104	C402S	probably damaging	Het
Spg7	T	C	8: 123,080,812		probably null	Het
Stk31	G	A	6: 49,445,264	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520	D45G	probably damaging	Het

Other mutations in Erp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Erp44	APN	4	48218126	missense	probably benign	0.22
IGL02057:Erp44	APN	4	48236964	missense	probably benign	0.05
IGL03253:Erp44	APN	4	48208750	missense	probably benign	0.09
R0033:Erp44	UTSW	4	48241289	splice site	probably benign
R0033:Erp44	UTSW	4	48241289	splice site	probably benign
R4976:Erp44	UTSW	4	48208797	missense	probably benign	0.01
R5024:Erp44	UTSW	4	48241296	nonsense	probably null
R5175:Erp44	UTSW	4	48196823	missense	probably benign	0.41
R5224:Erp44	UTSW	4	48279435	missense	probably benign
R5359:Erp44	UTSW	4	48211704	missense	probably benign
R6128:Erp44	UTSW	4	48243493	missense	probably damaging	0.98
R6248:Erp44	UTSW	4	48219479	nonsense	probably null
R6649:Erp44	UTSW	4	48205130	missense	probably null	0.01
R6653:Erp44	UTSW	4	48205130	missense	probably null	0.01
R6911:Erp44	UTSW	4	48204268	missense	probably benign	0.17
R7061:Erp44	UTSW	4	48219375	missense	probably benign
R7209:Erp44	UTSW	4	48211704	missense	probably benign
R7291:Erp44	UTSW	4	48208792	missense	probably damaging	1.00
R7369:Erp44	UTSW	4	48218183	missense	probably benign
R7703:Erp44	UTSW	4	48196904	missense	probably benign	0.09
R7785:Erp44	UTSW	4	48243531	missense	probably benign	0.04
R8213:Erp44	UTSW	4	48208783	missense	probably benign	0.03

Posted On

2016-08-02