Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Herpud1'

384840

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

042576-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R4981 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

95113066-95122005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95118422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 41 (Y41C)

Ref Sequence

ENSEMBL: ENSMUSP00000148581 (fasta)

Gene Model

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

AlphaFold

Q9JJK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034220
AA Change: Y164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770
AA Change: Y164C

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

noncoding transcript
Transcript: ENSMUST00000160866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161024

Predicted Effect

probably benign
Transcript: ENSMUST00000161085

Predicted Effect

probably damaging
Transcript: ENSMUST00000161576
AA Change: Y165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770
AA Change: Y165C

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 damaging
Transcript: ENSMUST00000211982
AA Change: Y41C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4854

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,095,772 (GRCm39)		probably null	Het
Aatf	T	C	11: 84,402,323 (GRCm39)	D121G	probably benign	Het
Amer2	T	A	14: 60,617,176 (GRCm39)	L331H	probably damaging	Het
Ang4	T	G	14: 52,001,829 (GRCm39)	K40Q	probably benign	Het
Aspm	A	C	1: 139,398,498 (GRCm39)		probably null	Het
Cacna1c	A	T	6: 118,728,432 (GRCm39)	D337E	probably benign	Het
Ccdc124	T	C	8: 71,321,429 (GRCm39)	E134G	probably benign	Het
Ccdc7a	G	T	8: 129,711,464 (GRCm39)	A312E	probably benign	Het
Cd209g	A	G	8: 4,186,845 (GRCm39)	D130G	probably damaging	Het
Cd320	T	C	17: 34,066,549 (GRCm39)	S96P	probably benign	Het
Cenatac	A	T	9: 44,329,245 (GRCm39)	F14Y	probably damaging	Het
Clu	C	G	14: 66,210,815 (GRCm39)	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,110,777 (GRCm39)	H28L	probably benign	Het
Cntnap1	T	C	11: 101,067,159 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,732,915 (GRCm39)	C546Y	unknown	Het
Col6a3	C	T	1: 90,706,565 (GRCm39)	V2183I	unknown	Het
Cop1	A	G	1: 159,152,638 (GRCm39)		probably benign	Het
Cpne8	T	C	15: 90,563,438 (GRCm39)	I24V	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Dennd5b	G	A	6: 148,911,270 (GRCm39)	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,229,550 (GRCm39)	M627I	probably benign	Het
Dnah3	A	T	7: 119,555,424 (GRCm39)	N2721K	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	G	18: 20,541,925 (GRCm39)	T811A	possibly damaging	Het
Emilin1	C	G	5: 31,076,695 (GRCm39)	Q847E	probably benign	Het
Epha3	A	T	16: 63,472,775 (GRCm39)	V370D	probably benign	Het
Epha5	T	A	5: 84,298,342 (GRCm39)	T406S	probably damaging	Het
Ephb1	A	T	9: 101,918,159 (GRCm39)	I450N	probably benign	Het
Ephb2	A	G	4: 136,423,321 (GRCm39)	M319T	probably benign	Het
Eps15l1	A	G	8: 73,132,833 (GRCm39)		probably null	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,966,281 (GRCm39)	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,596,174 (GRCm39)	F582L	probably damaging	Het
Frs3	T	C	17: 48,000,187 (GRCm39)		probably null	Het
Fscb	C	T	12: 64,520,393 (GRCm39)	V358I	possibly damaging	Het
Fus	G	T	7: 127,566,727 (GRCm39)		probably benign	Het
Fyb1	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,676,092 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,270 (GRCm39)	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,269,860 (GRCm39)		noncoding transcript	Het
Gng3	G	A	19: 8,815,625 (GRCm39)	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,812,191 (GRCm39)		probably benign	Het
Igkv4-92	G	C	6: 68,732,028 (GRCm39)	S115R	possibly damaging	Het
Ikbip	T	A	10: 90,931,848 (GRCm39)	I164N	probably benign	Het
Kank1	A	G	19: 25,388,759 (GRCm39)	T783A	probably benign	Het
Kcnq3	A	T	15: 65,903,254 (GRCm39)	V152E	possibly damaging	Het
Kif23	C	T	9: 61,839,153 (GRCm39)	R314H	probably damaging	Het
Klc4	T	C	17: 46,955,287 (GRCm39)	H49R	probably benign	Het
Klhl20	A	T	1: 160,930,575 (GRCm39)	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,540,701 (GRCm39)	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,306,761 (GRCm39)	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,113,265 (GRCm39)	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,960,765 (GRCm39)	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,396,201 (GRCm39)	T109S	probably benign	Het
Megf6	T	C	4: 154,351,907 (GRCm39)	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,959 (GRCm39)	V240D	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,115,300 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,716,553 (GRCm39)	I172V	probably benign	Het
Nemp1	T	A	10: 127,529,399 (GRCm39)	L178Q	probably damaging	Het
Numa1	T	C	7: 101,641,881 (GRCm39)	S110P	probably damaging	Het
Or4a75	A	G	2: 89,447,769 (GRCm39)	Y256H	probably damaging	Het
Or4c117	T	C	2: 88,955,845 (GRCm39)	T77A	probably benign	Het
Or51k1	A	G	7: 103,661,312 (GRCm39)	I199T	probably damaging	Het
Or5ak25	A	G	2: 85,268,813 (GRCm39)	S230P	probably damaging	Het
Or8k30	T	C	2: 86,339,171 (GRCm39)	Y123H	probably damaging	Het
Or9q1	A	T	19: 13,805,458 (GRCm39)	F101I	probably damaging	Het
Pard3b	T	G	1: 62,383,219 (GRCm39)	M771R	probably damaging	Het
Phkg2	A	G	7: 127,181,551 (GRCm39)	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,254,103 (GRCm39)	M628K	possibly damaging	Het
Poln	A	G	5: 34,264,429 (GRCm39)		probably null	Het
Ppip5k1	A	T	2: 121,142,871 (GRCm39)	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,847,446 (GRCm39)	H363L	probably damaging	Het
Prkdc	A	G	16: 15,496,173 (GRCm39)	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,520,116 (GRCm39)	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,756,728 (GRCm39)	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,041,919 (GRCm39)	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,801,686 (GRCm39)	V2366A	probably benign	Het
Stab2	T	A	10: 86,796,087 (GRCm39)	M387L	probably benign	Het
Syne2	T	G	12: 75,987,993 (GRCm39)	M1718R	probably damaging	Het
Synm	G	T	7: 67,384,235 (GRCm39)	F700L	probably benign	Het
Tmco4	T	C	4: 138,718,012 (GRCm39)	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,095,962 (GRCm39)	P168T	probably damaging	Het
Tril	G	T	6: 53,795,905 (GRCm39)	T439K	probably benign	Het
Trim2	A	G	3: 84,085,042 (GRCm39)	L559P	probably damaging	Het
Trim3	A	G	7: 105,268,335 (GRCm39)	V149A	probably damaging	Het
Triml2	A	G	8: 43,640,717 (GRCm39)	N191S	probably benign	Het
Usp4	A	G	9: 108,258,617 (GRCm39)	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,486,885 (GRCm39)	T670I	probably damaging	Het
Vmn2r97	G	T	17: 19,160,436 (GRCm39)	G524*	probably null	Het
Xpo5	C	A	17: 46,531,743 (GRCm39)	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,190 (GRCm39)	L84S	probably damaging	Het
Zranb2	T	G	3: 157,252,378 (GRCm39)		probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
R9022:Herpud1	UTSW	8	95,116,197 (GRCm39)	missense	possibly damaging	0.68
R9050:Herpud1	UTSW	8	95,117,454 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGATGGCTACTGTGATCTCTG -3'
(R):5'- ACGTCTTGAAGCTGCTATTGTTTC -3'

Sequencing Primer
(F):5'- ATGGCTACTGTGATCTCTGTCCTG -3'
(R):5'- GAAGCTGCTATTGTTTCTACCC -3'

Posted On

2016-05-10