Incidental Mutation 'R0070:Serpinh1'
| ID |
17005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinh1
|
| Ensembl Gene |
ENSMUSG00000070436 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade H, member 1 |
| Synonyms |
Serpinh2, Hsp47, colligin, J6, Cbp1, Cbp2, gp46 |
| MMRRC Submission |
038361-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0070 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98994583-99002321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98998521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 36
(S36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094154]
[ENSMUST00000169437]
[ENSMUST00000207849]
[ENSMUST00000207989]
[ENSMUST00000208119]
[ENSMUST00000208292]
[ENSMUST00000208749]
|
| AlphaFold |
P19324 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094154
AA Change: S36R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: S36R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
51 |
408 |
6.88e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169437
AA Change: S36R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: S36R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
51 |
408 |
6.88e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207849
AA Change: S36R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207989
AA Change: S36R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208119
AA Change: S36R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208292
AA Change: S36R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208749
AA Change: S36R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
| Validation Efficiency |
88% (67/76) |
| 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 serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. Mice homozygous for a conditional allele activated in chondrocytes exhibit complete perinatal lethality, cleft palate, respiratory distress, abnormal chondocytes and bone formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
| AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
| Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
| Gm2027 |
T |
A |
12: 44,269,145 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
| Hykk |
T |
A |
9: 54,829,632 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,840,262 (GRCm39) |
D346G |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
| Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
| Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,220,462 (GRCm39) |
E1669G |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
| Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
| Pi4k2b |
A |
C |
5: 52,914,260 (GRCm39) |
D309A |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
| Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
| Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
| Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,543 (GRCm39) |
M511L |
probably benign |
Het |
| Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,427,526 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
| Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
| Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
| Zscan20 |
C |
T |
4: 128,479,675 (GRCm39) |
V939I |
possibly damaging |
Het |
|
| Other mutations in Serpinh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02405:Serpinh1
|
APN |
7 |
98,996,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02506:Serpinh1
|
APN |
7 |
98,996,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Serpinh1
|
UTSW |
7 |
98,998,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Serpinh1
|
UTSW |
7 |
98,998,601 (GRCm39) |
missense |
unknown |
|
|
R1338:Serpinh1
|
UTSW |
7 |
98,998,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Serpinh1
|
UTSW |
7 |
98,998,138 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1916:Serpinh1
|
UTSW |
7 |
98,998,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2321:Serpinh1
|
UTSW |
7 |
98,995,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Serpinh1
|
UTSW |
7 |
98,998,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Serpinh1
|
UTSW |
7 |
98,996,206 (GRCm39) |
missense |
probably benign |
|
|
R5860:Serpinh1
|
UTSW |
7 |
98,995,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Serpinh1
|
UTSW |
7 |
98,995,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7884:Serpinh1
|
UTSW |
7 |
98,998,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8215:Serpinh1
|
UTSW |
7 |
98,995,545 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8309:Serpinh1
|
UTSW |
7 |
98,998,151 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8756:Serpinh1
|
UTSW |
7 |
98,996,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Serpinh1
|
UTSW |
7 |
98,996,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Serpinh1
|
UTSW |
7 |
98,995,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation