Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Erp44'

560925

Institutional Source

Beutler Lab

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

Txndc4, 1110001E24Rik

MMRRC Submission

045338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48193323-48279558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48211704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 197 (D197E)

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

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

AlphaFold

Q9D1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000030028
AA Change: D197E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: D197E

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: ENSMUST00000157219

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,767,268 (GRCm39)	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Atg4b	A	G	1: 93,702,955 (GRCm39)	I128M	probably damaging	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Dscam	T	C	16: 96,451,544 (GRCm39)		probably null	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,479,996 (GRCm39)	V21M	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Polr2b	T	A	5: 77,491,026 (GRCm39)	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	possibly 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
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'- CACTGCGTCACTCTGAAATACGG -3'
(R):5'- GCCTTTAAATGTATGCTTGTCTTGC -3'

Sequencing Primer
(F):5'- TGGCATACACAAGCCTTTGG -3'
(R):5'- ATGCTTGTCTTGCTATTGTACAG -3'

Posted On

2019-06-26