Incidental Mutation 'R6015:Serpinb13'
ID |
478542 |
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 |
043254-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6015 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 106928337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 319
(A319E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027564]
[ENSMUST00000136766]
|
AlphaFold |
Q8CDC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027564
AA Change: A319E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000027564 Gene: ENSMUSG00000048775 AA Change: A319E
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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
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 |
R0683:Serpinb13
|
UTSW |
1 |
106,926,751 (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 |
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'- GCTGGCTCAAGATAGTATGTGG -3'
(R):5'- ATGCTGTCAGACTCTCTGTGTC -3'
Sequencing Primer
(F):5'- TCCCTTTCCAACTGTAGATAATGG -3'
(R):5'- GACTCTCTGTGTCTGATGAAGAAC -3'
|
Posted On |
2017-06-26 |