Incidental Mutation 'R0664:Serpinb7'
| ID |
61937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb7
|
| Ensembl Gene |
ENSMUSG00000067001 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 7 |
| Synonyms |
4631416M05Rik, megsin, ovalbumin |
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
92 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107350418-107380419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107356037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 20
(D20G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086690]
[ENSMUST00000154538]
|
| AlphaFold |
Q9D695 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086690
AA Change: D20G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
380 |
2.7e-121 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154538
AA Change: D20G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119217
Gene: ENSMUSG00000067001
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
6 |
97 |
4.9e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.1183 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
| Other mutations in Serpinb7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Serpinb7
|
APN |
1 |
107,355,976 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01325:Serpinb7
|
APN |
1 |
107,363,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01595:Serpinb7
|
APN |
1 |
107,356,052 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01925:Serpinb7
|
APN |
1 |
107,379,399 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02008:Serpinb7
|
APN |
1 |
107,375,859 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02206:Serpinb7
|
APN |
1 |
107,363,102 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02870:Serpinb7
|
APN |
1 |
107,378,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Serpinb7
|
APN |
1 |
107,379,741 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0455:Serpinb7
|
UTSW |
1 |
107,379,340 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0492:Serpinb7
|
UTSW |
1 |
107,379,737 (GRCm39) |
makesense |
probably null |
|
|
R1495:Serpinb7
|
UTSW |
1 |
107,379,390 (GRCm39) |
nonsense |
probably null |
|
|
R1540:Serpinb7
|
UTSW |
1 |
107,355,998 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1789:Serpinb7
|
UTSW |
1 |
107,378,003 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1850:Serpinb7
|
UTSW |
1 |
107,356,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2962:Serpinb7
|
UTSW |
1 |
107,379,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3151:Serpinb7
|
UTSW |
1 |
107,363,081 (GRCm39) |
nonsense |
probably null |
|
|
R3439:Serpinb7
|
UTSW |
1 |
107,356,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Serpinb7
|
UTSW |
1 |
107,373,766 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4590:Serpinb7
|
UTSW |
1 |
107,379,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Serpinb7
|
UTSW |
1 |
107,362,479 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5637:Serpinb7
|
UTSW |
1 |
107,356,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Serpinb7
|
UTSW |
1 |
107,379,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Serpinb7
|
UTSW |
1 |
107,373,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Serpinb7
|
UTSW |
1 |
107,377,919 (GRCm39) |
missense |
probably benign |
|
|
R6317:Serpinb7
|
UTSW |
1 |
107,379,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6494:Serpinb7
|
UTSW |
1 |
107,363,076 (GRCm39) |
nonsense |
probably null |
|
|
R7181:Serpinb7
|
UTSW |
1 |
107,378,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8011:Serpinb7
|
UTSW |
1 |
107,362,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8226:Serpinb7
|
UTSW |
1 |
107,375,980 (GRCm39) |
splice site |
probably null |
|
|
R9097:Serpinb7
|
UTSW |
1 |
107,377,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAGCTGCTTGATGATTGCAC -3'
(R):5'- GCTGTGGTTGCCATCAAAGCTAAAG -3'
Sequencing Primer
(F):5'- CTGCTTGATGATTGCACACAAAG -3'
(R):5'- GTGAAGTCCAGTGCTTATCATGAAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation