Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Erp44'

594107

Institutional Source

Beutler Lab

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

Txndc4, 1110001E24Rik

MMRRC Submission

045764-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7703 (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 A at 48196904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 340 (I340F)

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

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

AlphaFold

Q9D1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000030028
AA Change: I340F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: I340F

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,316,593 (GRCm39)	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 88,120,671 (GRCm39)	L476P	possibly damaging	Het
Aasdh	T	C	5: 77,035,924 (GRCm39)	D387G	probably damaging	Het
Ahsa2	T	A	11: 23,440,415 (GRCm39)	T327S	probably benign	Het
Ap3d1	A	T	10: 80,553,678 (GRCm39)	V523E	probably damaging	Het
Baz2b	C	A	2: 59,747,769 (GRCm39)	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 28,765,503 (GRCm39)	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,173,043 (GRCm39)	T1714K	probably damaging	Het
Chrna3	A	T	9: 54,923,408 (GRCm39)	D133E	probably benign	Het
Cnot1	C	T	8: 96,486,726 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,990,295 (GRCm39)	N1396Y	unknown	Het
Cox11	A	G	11: 90,529,245 (GRCm39)	N77S	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cytip	A	G	2: 58,037,920 (GRCm39)	V148A	probably damaging	Het
Diaph1	T	C	18: 38,023,862 (GRCm39)	I659V	unknown	Het
Dmxl2	A	T	9: 54,368,370 (GRCm39)	M26K	probably benign	Het
Fam186a	A	G	15: 99,852,678 (GRCm39)	M180T	unknown	Het
Frem2	C	T	3: 53,429,589 (GRCm39)	V2793I	probably benign	Het
Gm19410	A	G	8: 36,266,539 (GRCm39)	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588 (GRCm39)	I343V	probably benign	Het
Grsf1	T	A	5: 88,819,150 (GRCm39)	N228Y	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,646,381 (GRCm39)	N74K	probably benign	Het
Kcnh6	A	T	11: 105,914,703 (GRCm39)	T703S	probably benign	Het
Lrp1b	T	A	2: 41,000,798 (GRCm39)	D2256V		Het
Lrrc63	T	C	14: 75,360,447 (GRCm39)	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,531,194 (GRCm39)	E258G	probably damaging	Het
Mcph1	T	C	8: 18,721,122 (GRCm39)	I650T	possibly damaging	Het
Mep1a	T	C	17: 43,788,997 (GRCm39)	D606G	possibly damaging	Het
Muc16	T	C	9: 18,516,578 (GRCm39)	I313M		Het
Myh7b	A	G	2: 155,462,356 (GRCm39)	Y353C	probably null	Het
Nfatc1	A	G	18: 80,725,504 (GRCm39)	L420P	probably damaging	Het
Olfml1	A	G	7: 107,170,392 (GRCm39)	E93G	probably damaging	Het
Or6b1	A	T	6: 42,814,938 (GRCm39)	E41V	probably damaging	Het
Or8c11	A	G	9: 38,289,357 (GRCm39)	H54R	probably benign	Het
Pax1	A	T	2: 147,208,034 (GRCm39)	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,619,801 (GRCm39)	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,885,321 (GRCm39)	M164L	probably benign	Het
Pcolce	T	C	5: 137,603,474 (GRCm39)	N453S	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Ptprq	C	T	10: 107,480,007 (GRCm39)	V1088I	probably benign	Het
Rab5a	T	A	17: 53,807,485 (GRCm39)	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,010,315 (GRCm39)	D291G	probably benign	Het
Rbm25	A	T	12: 83,721,864 (GRCm39)	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,803,240 (GRCm39)	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,669,610 (GRCm39)	S259P	possibly damaging	Het
Ring1	T	C	17: 34,242,109 (GRCm39)	D100G	probably damaging	Het
Ryr3	A	T	2: 112,690,110 (GRCm39)	D1166E	probably damaging	Het
Sacs	A	G	14: 61,443,539 (GRCm39)	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,354,465 (GRCm39)	I63T	possibly damaging	Het
Septin14	C	T	5: 129,763,092 (GRCm39)	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,289,201 (GRCm39)	Q706L	probably benign	Het
Skap2	A	T	6: 51,884,934 (GRCm39)	H242Q	probably benign	Het
Spmap2l	T	C	5: 77,164,444 (GRCm39)	I149T	probably benign	Het
Tfpt	A	G	7: 3,623,744 (GRCm39)		probably null	Het
Thg1l	T	G	11: 45,846,120 (GRCm39)	D58A	probably damaging	Het
Thyn1	A	G	9: 26,918,143 (GRCm39)	E177G	probably benign	Het
Tmem151b	C	T	17: 45,856,724 (GRCm39)	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,788,095 (GRCm39)	V840A	probably benign	Het
Usp32	A	T	11: 84,968,153 (GRCm39)	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,234,864 (GRCm39)	V674A	probably benign	Het
Vwa8	A	G	14: 79,263,513 (GRCm39)	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,270,433 (GRCm39)	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917 (GRCm39)	I476T	probably benign	Het
Zfp91	A	T	19: 12,754,241 (GRCm39)	D282E	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
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
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'- TCTAGCTCAAGTCCCCTCTGAG -3'
(R):5'- GGGATACAGCATCTTGATAGTATTACC -3'

Sequencing Primer
(F):5'- TGAGGCGGTCTCCACAGAAG -3'
(R):5'- CTGTAACTCTAGTTCCAGGGGATAC -3'

Posted On

2019-11-12