Incidental Mutation 'R5985:Herpud1'
| ID |
481610 |
| 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 |
044165-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R5985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95113066-95122005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95117422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 2
(R2Q)
|
| 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: R125Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770
AA Change: R125Q
| 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: R126Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770
AA Change: R126Q
| 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: R2Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
96% (47/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
| Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
| Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,675,411 (GRCm39) |
I448V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,284,507 (GRCm39) |
F821L |
probably damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
| Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
| Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
| Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
| Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,004,873 (GRCm39) |
F568L |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
| Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
| Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
| Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
| Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,382,752 (GRCm39) |
R526Q |
probably damaging |
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 |
|
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'- CCATAAGCCACTGGTAGCAAAG -3'
(R):5'- AAGCTAAGGGGCTGTGTACTTTC -3'
Sequencing Primer
(F):5'- GCCACTGGTAGCAAAGTAATTC -3'
(R):5'- CCTCCTGAGTACTGGGATTAAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation