Incidental Mutation 'R3903:Serpinb9'
| ID |
309273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9
|
| Ensembl Gene |
ENSMUSG00000045827 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9 |
| Synonyms |
ovalbumin, PI-9, Spi6 |
| MMRRC Submission |
040907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33187233-33201940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33194793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 183
(M183T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006391]
[ENSMUST00000063191]
|
| AlphaFold |
O08797 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006391
AA Change: M183T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: M183T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063191
AA Change: M183T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: M183T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Meta Mutation Damage Score |
0.1202 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| 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 serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mice show defective CTL immunity and clearance of LCMV. Following infection with LCMV or L. monocytogenes, mutant CTLs display a breakdown of cytotoxic granule integrity, increased cytoplasmic granzyme B, and reduced survival due to increased granzyme B-mediated apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
| Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
| Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
| Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
| Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
probably benign |
Het |
|
| Other mutations in Serpinb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Serpinb9
|
APN |
13 |
33,190,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03385:Serpinb9
|
APN |
13 |
33,191,979 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Serpinb9
|
UTSW |
13 |
33,194,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1586:Serpinb9
|
UTSW |
13 |
33,199,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3708:Serpinb9
|
UTSW |
13 |
33,192,002 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3853:Serpinb9
|
UTSW |
13 |
33,199,503 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4117:Serpinb9
|
UTSW |
13 |
33,199,579 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4903:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Serpinb9
|
UTSW |
13 |
33,190,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5463:Serpinb9
|
UTSW |
13 |
33,199,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6165:Serpinb9
|
UTSW |
13 |
33,192,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7510:Serpinb9
|
UTSW |
13 |
33,194,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7511:Serpinb9
|
UTSW |
13 |
33,192,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9069:Serpinb9
|
UTSW |
13 |
33,199,579 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9128:Serpinb9
|
UTSW |
13 |
33,190,686 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9238:Serpinb9
|
UTSW |
13 |
33,199,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9409:Serpinb9
|
UTSW |
13 |
33,192,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATACACATATGAAAGGAACCTG -3'
(R):5'- AGTCTTTACCACTGAGCCCAG -3'
Sequencing Primer
(F):5'- GGAACCTGAATGAAGTCTCTGCTTTC -3'
(R):5'- GATCAAAGCTTTCCATACAGTCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation