Incidental Mutation 'R0683:Serpinb13'
ID |
61036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb13
|
Ensembl Gene |
ENSMUSG00000048775 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 |
Synonyms |
HUR7, HURPIN, PI13, headpin |
MMRRC Submission |
038868-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0683 (G1)
|
Quality Score |
108 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106926751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 249
(N249S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027564]
[ENSMUST00000136766]
|
AlphaFold |
Q8CDC0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027564
AA Change: N249S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027564 Gene: ENSMUSG00000048775 AA Change: N249S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
389 |
1.55e-144 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136766
|
SMART Domains |
Protein: ENSMUSP00000118572 Gene: ENSMUSG00000048775
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
6 |
94 |
1.1e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
probably damaging |
Het |
|
Other mutations in Serpinb13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00558:Serpinb13
|
APN |
1 |
106,924,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01758:Serpinb13
|
APN |
1 |
106,928,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Serpinb13
|
APN |
1 |
106,926,688 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02183:Serpinb13
|
APN |
1 |
106,926,640 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1263:Serpinb13
|
UTSW |
1 |
106,928,466 (GRCm39) |
missense |
probably damaging |
0.97 |
R1535:Serpinb13
|
UTSW |
1 |
106,909,886 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1929:Serpinb13
|
UTSW |
1 |
106,926,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2271:Serpinb13
|
UTSW |
1 |
106,926,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2655:Serpinb13
|
UTSW |
1 |
106,928,157 (GRCm39) |
missense |
probably damaging |
0.99 |
R3115:Serpinb13
|
UTSW |
1 |
106,910,568 (GRCm39) |
missense |
probably null |
0.15 |
R3418:Serpinb13
|
UTSW |
1 |
106,926,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R3419:Serpinb13
|
UTSW |
1 |
106,926,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R3883:Serpinb13
|
UTSW |
1 |
106,926,302 (GRCm39) |
missense |
probably benign |
0.37 |
R4664:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4690:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4728:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4847:Serpinb13
|
UTSW |
1 |
106,910,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Serpinb13
|
UTSW |
1 |
106,926,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R5501:Serpinb13
|
UTSW |
1 |
106,909,915 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5507:Serpinb13
|
UTSW |
1 |
106,926,332 (GRCm39) |
missense |
probably benign |
0.00 |
R6015:Serpinb13
|
UTSW |
1 |
106,928,337 (GRCm39) |
missense |
probably benign |
0.00 |
R6363:Serpinb13
|
UTSW |
1 |
106,928,504 (GRCm39) |
nonsense |
probably null |
|
R6720:Serpinb13
|
UTSW |
1 |
106,921,792 (GRCm39) |
missense |
probably benign |
0.12 |
R6847:Serpinb13
|
UTSW |
1 |
106,926,663 (GRCm39) |
missense |
probably benign |
0.24 |
R7237:Serpinb13
|
UTSW |
1 |
106,926,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Serpinb13
|
UTSW |
1 |
106,928,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Serpinb13
|
UTSW |
1 |
106,928,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9011:Serpinb13
|
UTSW |
1 |
106,923,519 (GRCm39) |
missense |
probably benign |
0.01 |
R9350:Serpinb13
|
UTSW |
1 |
106,923,562 (GRCm39) |
nonsense |
probably null |
|
R9375:Serpinb13
|
UTSW |
1 |
106,909,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9774:Serpinb13
|
UTSW |
1 |
106,923,579 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Serpinb13
|
UTSW |
1 |
106,910,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGGCTCTTTGAACAGCTCCAC -3'
(R):5'- TTTGACAGAGATCATCCGGCAGC -3'
Sequencing Primer
(F):5'- CCAAGCTGGTGCTAATAAATACAG -3'
(R):5'- ATCATCCGGCAGCCACTTC -3'
|
Posted On |
2013-07-30 |