Incidental Mutation 'R6613:Hyou1'
| ID |
523778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyou1
|
| Ensembl Gene |
ENSMUSG00000032115 |
| Gene Name |
hypoxia up-regulated 1 |
| Synonyms |
140 kDa, Orp150, Cab140, Grp170, CBP-140 |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44290840-44303662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44293795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 242
(I242F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066601]
[ENSMUST00000159473]
[ENSMUST00000160902]
[ENSMUST00000161318]
[ENSMUST00000162560]
[ENSMUST00000217019]
|
| AlphaFold |
Q9JKR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066601
AA Change: I242F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: I242F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
35 |
669 |
1.3e-101 |
PFAM |
|
Pfam:HSP70
|
690 |
814 |
2.1e-6 |
PFAM |
|
low complexity region
|
970 |
986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159473
AA Change: I191F
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124177
Gene: ENSMUSG00000032115
AA Change: I191F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
38 |
226 |
2e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160112
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160902
AA Change: I242F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: I242F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
35 |
671 |
3.8e-101 |
PFAM |
|
Pfam:HSP70
|
690 |
814 |
1.2e-6 |
PFAM |
|
low complexity region
|
970 |
986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161318
AA Change: I242F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: I242F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
35 |
671 |
3.8e-101 |
PFAM |
|
Pfam:HSP70
|
690 |
814 |
1.2e-6 |
PFAM |
|
low complexity region
|
970 |
986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162560
|
| SMART Domains |
Protein: ENSMUSP00000123749
Gene: ENSMUSG00000032115
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
35 |
168 |
6.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217460
|
| Meta Mutation Damage Score |
0.7709 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous mice display increased susceptibility to induced neuronal cell death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Gene trapped(5) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
possibly damaging |
Het |
|
| Other mutations in Hyou1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Hyou1
|
APN |
9 |
44,296,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01660:Hyou1
|
APN |
9 |
44,292,414 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01677:Hyou1
|
APN |
9 |
44,293,309 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01903:Hyou1
|
APN |
9 |
44,292,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Hyou1
|
APN |
9 |
44,292,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02806:Hyou1
|
APN |
9 |
44,300,180 (GRCm39) |
nonsense |
probably null |
|
|
IGL03401:Hyou1
|
APN |
9 |
44,296,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Hyou1
|
APN |
9 |
44,299,355 (GRCm39) |
missense |
probably benign |
|
|
ANU74:Hyou1
|
UTSW |
9 |
44,292,560 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
D3080:Hyou1
|
UTSW |
9 |
44,295,774 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4378001:Hyou1
|
UTSW |
9 |
44,302,148 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0408:Hyou1
|
UTSW |
9 |
44,295,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Hyou1
|
UTSW |
9 |
44,300,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Hyou1
|
UTSW |
9 |
44,295,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Hyou1
|
UTSW |
9 |
44,300,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Hyou1
|
UTSW |
9 |
44,300,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1803:Hyou1
|
UTSW |
9 |
44,295,479 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Hyou1
|
UTSW |
9 |
44,292,849 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2180:Hyou1
|
UTSW |
9 |
44,299,316 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2233:Hyou1
|
UTSW |
9 |
44,300,388 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2235:Hyou1
|
UTSW |
9 |
44,300,388 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3950:Hyou1
|
UTSW |
9 |
44,296,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198:Hyou1
|
UTSW |
9 |
44,300,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4200:Hyou1
|
UTSW |
9 |
44,300,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Hyou1
|
UTSW |
9 |
44,291,912 (GRCm39) |
splice site |
probably null |
|
|
R4393:Hyou1
|
UTSW |
9 |
44,293,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Hyou1
|
UTSW |
9 |
44,293,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Hyou1
|
UTSW |
9 |
44,298,418 (GRCm39) |
intron |
probably benign |
|
|
R5239:Hyou1
|
UTSW |
9 |
44,296,560 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5648:Hyou1
|
UTSW |
9 |
44,296,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5818:Hyou1
|
UTSW |
9 |
44,300,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5856:Hyou1
|
UTSW |
9 |
44,292,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Hyou1
|
UTSW |
9 |
44,293,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6594:Hyou1
|
UTSW |
9 |
44,300,619 (GRCm39) |
missense |
probably benign |
|
|
R6596:Hyou1
|
UTSW |
9 |
44,299,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6704:Hyou1
|
UTSW |
9 |
44,292,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6849:Hyou1
|
UTSW |
9 |
44,298,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7494:Hyou1
|
UTSW |
9 |
44,300,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7632:Hyou1
|
UTSW |
9 |
44,292,433 (GRCm39) |
splice site |
probably null |
|
|
R7711:Hyou1
|
UTSW |
9 |
44,295,759 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8064:Hyou1
|
UTSW |
9 |
44,296,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8287:Hyou1
|
UTSW |
9 |
44,299,430 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9352:Hyou1
|
UTSW |
9 |
44,300,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9385:Hyou1
|
UTSW |
9 |
44,292,812 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0027:Hyou1
|
UTSW |
9 |
44,302,153 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Hyou1
|
UTSW |
9 |
44,299,039 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCATCCTGCATTTGATAAAC -3'
(R):5'- TGTCTTCTTTGGGAGCAGCC -3'
Sequencing Primer
(F):5'- TAACTCACTGTGTAAGCCAGGCTG -3'
(R):5'- CCTTCCAGAAACCCATGCTGTATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation