Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Herpud1'

686288

Institutional Source

Beutler Lab

Gene Symbol

Herpud1

Ensembl Gene

ENSMUSG00000031770

Gene Name

homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1

Synonyms

Mifl, Herp

MMRRC Submission

068852-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95113066-95122005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95116197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 92 (S92T)

Ref Sequence

ENSEMBL: ENSMUSP00000124201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034220] [ENSMUST00000161085] [ENSMUST00000161576] [ENSMUST00000211982]

AlphaFold

Q9JJK5

Predicted Effect

probably benign
Transcript: ENSMUST00000034220
AA Change: S91T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770
AA Change: S91T

Domain	Start	End	E-Value	Type
UBQ	10	86	1.99e-13	SMART
low complexity region	216	242	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159450

Predicted Effect

unknown
Transcript: ENSMUST00000161085
AA Change: L52H

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161576
AA Change: S92T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770
AA Change: S92T

Domain	Start	End	E-Value	Type
UBQ	10	87	7.55e-14	SMART
low complexity region	217	243	N/A	INTRINSIC
low complexity region	274	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211982

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance and decreased cerebral infarction size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	Het

Other mutations in Herpud1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02506:Herpud1	APN	8	95,121,270 (GRCm39)	nonsense	probably null
R1667:Herpud1	UTSW	8	95,115,994 (GRCm39)	missense	probably damaging	1.00
R2015:Herpud1	UTSW	8	95,118,834 (GRCm39)	missense	probably benign	0.44
R2255:Herpud1	UTSW	8	95,121,241 (GRCm39)	missense	probably benign	0.06
R3707:Herpud1	UTSW	8	95,118,867 (GRCm39)	missense	probably damaging	1.00
R4940:Herpud1	UTSW	8	95,117,470 (GRCm39)	missense	probably benign	0.18
R4961:Herpud1	UTSW	8	95,117,454 (GRCm39)	missense	probably benign	0.00
R4981:Herpud1	UTSW	8	95,118,422 (GRCm39)	missense	probably damaging	1.00
R5214:Herpud1	UTSW	8	95,117,479 (GRCm39)	splice site	probably null
R5499:Herpud1	UTSW	8	95,116,041 (GRCm39)	missense	probably damaging	1.00
R5835:Herpud1	UTSW	8	95,118,867 (GRCm39)	missense	probably damaging	1.00
R5985:Herpud1	UTSW	8	95,117,422 (GRCm39)	missense	probably damaging	1.00
R6702:Herpud1	UTSW	8	95,119,154 (GRCm39)	critical splice donor site	probably null
R6794:Herpud1	UTSW	8	95,121,398 (GRCm39)	splice site	probably null
R7060:Herpud1	UTSW	8	95,117,391 (GRCm39)	missense	probably benign	0.04
R7100:Herpud1	UTSW	8	95,117,475 (GRCm39)	missense	probably damaging	0.98
R7328:Herpud1	UTSW	8	95,113,248 (GRCm39)	missense	possibly damaging	0.76
R7384:Herpud1	UTSW	8	95,116,005 (GRCm39)	missense	probably damaging	0.98
R7898:Herpud1	UTSW	8	95,118,828 (GRCm39)	missense	probably benign	0.05
R8025:Herpud1	UTSW	8	95,119,149 (GRCm39)	missense	probably damaging	1.00
R8036:Herpud1	UTSW	8	95,119,014 (GRCm39)	missense	probably damaging	1.00
R8872:Herpud1	UTSW	8	95,113,213 (GRCm39)	unclassified	probably benign
R8965:Herpud1	UTSW	8	95,118,469 (GRCm39)	missense	probably damaging	1.00
R9050:Herpud1	UTSW	8	95,117,454 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGATCACCAGTGTCTCCAAG -3'
(R):5'- ACACAGCAAGCTCAGGTCAG -3'

Sequencing Primer
(F):5'- GGATCACCAGTGTCTCCAAGATTTG -3'
(R):5'- AGTCTGCTCAGCCCTCAGTG -3'

Posted On

2021-10-11