Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Erp44'

548249

Institutional Source

Beutler Lab

Gene Symbol

Erp44

Ensembl Gene

ENSMUSG00000028343

Gene Name

endoplasmic reticulum protein 44

Synonyms

Txndc4, 1110001E24Rik

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48193323-48279558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48219375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 147 (I147F)

Ref Sequence

ENSEMBL: ENSMUSP00000030028 (fasta)

Gene Model

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

AlphaFold

Q9D1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000030028
AA Change: I147F

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

SMART Domains

Protein: ENSMUSP00000030028
Gene: ENSMUSG00000028343
AA Change: I147F

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

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	G	A	15: 51,903,617 (GRCm39)	M13I	probably benign	Het
Abcb5	A	C	12: 118,841,509 (GRCm39)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,441,730 (GRCm39)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,110,757 (GRCm39)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,834,236 (GRCm39)	T343S	probably benign	Het
Celsr3	T	A	9: 108,724,793 (GRCm39)	C2957*	probably null	Het
Chd6	G	A	2: 160,867,885 (GRCm39)	Q428*	probably null	Het
Col5a1	C	A	2: 27,915,690 (GRCm39)	C191*	probably null	Het
Cpox	A	G	16: 58,491,223 (GRCm39)	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,116,091 (GRCm39)	R268C	probably benign	Het
Dclk2	A	G	3: 86,739,038 (GRCm39)		probably null	Het
Dennd5a	T	C	7: 109,504,386 (GRCm39)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,228,489 (GRCm39)	S414T	possibly damaging	Het
Dock5	A	G	14: 68,007,703 (GRCm39)	F1502S	probably damaging	Het
Dop1b	G	T	16: 93,558,951 (GRCm39)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,410,066 (GRCm39)	N511K	probably benign	Het
Epc2	G	T	2: 49,425,334 (GRCm39)	R108L	probably damaging	Het
Evc	T	C	5: 37,476,446 (GRCm39)	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,452,448 (GRCm39)	R738S	probably benign	Het
Fli1	T	C	9: 32,335,518 (GRCm39)	T305A	probably damaging	Het
Grk5	A	G	19: 61,034,530 (GRCm39)	T93A	probably benign	Het
Grm2	A	T	9: 106,528,424 (GRCm39)	N153K	probably damaging	Het
Helz	A	G	11: 107,540,003 (GRCm39)	T1007A	possibly damaging	Het
Helz2	A	G	2: 180,882,307 (GRCm39)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,802,656 (GRCm39)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,163,691 (GRCm39)	K218E	unknown	Het
Hydin	A	T	8: 111,329,920 (GRCm39)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,457,768 (GRCm39)		probably null	Het
Igfals	T	C	17: 25,099,281 (GRCm39)	L124P	probably damaging	Het
Il24	T	A	1: 130,811,108 (GRCm39)	H142L	possibly damaging	Het
Iqca1l	A	G	5: 24,750,063 (GRCm39)	M660T	probably benign	Het
Kcnh2	A	T	5: 24,536,920 (GRCm39)	H221Q	probably benign	Het
Man1a	A	G	10: 53,796,331 (GRCm39)	S454P	probably damaging	Het
Meiosin	A	T	7: 18,834,053 (GRCm39)		probably benign	Het
Mfsd4b1	C	T	10: 39,879,382 (GRCm39)	V172M	possibly damaging	Het
Mical2	T	A	7: 111,946,008 (GRCm39)	I763K	probably benign	Het
Mybpc3	A	G	2: 90,955,749 (GRCm39)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,897,724 (GRCm39)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,502,780 (GRCm39)	I265M	probably benign	Het
Or52n5	T	C	7: 104,587,883 (GRCm39)	L50P	probably damaging	Het
Or5bw2	A	G	7: 6,573,782 (GRCm39)	Y264C	probably damaging	Het
Or8b9	T	A	9: 37,766,942 (GRCm39)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,864,976 (GRCm39)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,286,457 (GRCm39)	D586G	probably damaging	Het
Pkn3	T	A	2: 29,973,548 (GRCm39)		probably null	Het
Prob1	A	T	18: 35,787,553 (GRCm39)	S234T	probably benign	Het
Rab14	A	T	2: 35,073,429 (GRCm39)	L131*	probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,777,164 (GRCm39)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,395,149 (GRCm39)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,831,087 (GRCm39)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,725,261 (GRCm39)	T575I	probably benign	Het
Smo	A	G	6: 29,760,229 (GRCm39)	H776R	probably damaging	Het
Speer1f	T	C	5: 11,469,071 (GRCm39)	V74A	possibly damaging	Het
Tns2	A	G	15: 102,012,914 (GRCm39)	M1V	probably null	Het
Ttn	C	A	2: 76,725,036 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,306,240 (GRCm39)	M130L	probably benign	Het
Urb2	C	T	8: 124,755,036 (GRCm39)	H248Y	probably benign	Het
Vit	A	T	17: 78,932,585 (GRCm39)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,547,310 (GRCm39)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,511,620 (GRCm39)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,908,512 (GRCm39)	I876V	probably benign	Het
Zfp442	A	G	2: 150,249,937 (GRCm39)	I655T	probably benign	Het
Zfp574	T	A	7: 24,779,622 (GRCm39)	C215S	possibly damaging	Het
Zfp608	T	C	18: 55,121,069 (GRCm39)	T173A	probably benign	Het
Zfp69	A	T	4: 120,788,598 (GRCm39)	V239D	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
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'- GAATGAATCCCAGACAAAGTCTTTCC -3'
(R):5'- GACTGTTAAACTATTGGGTTCACC -3'

Sequencing Primer
(F):5'- CCAGACAAAGTCTTTCCAGTTTG -3'
(R):5'- TTCACCCTGGCTGAGTGCTAAAG -3'

Posted On

2019-05-13