Incidental Mutation 'R2655:Serpinb13'
ID |
252624 |
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 |
040430-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R2655 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106928157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 259
(D259G)
|
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: D259G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027564 Gene: ENSMUSG00000048775 AA Change: D259G
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 |
|
Meta Mutation Damage Score |
0.3714 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (39/39) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
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 |
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'- ATGTGACTGCATGTGTTCACAC -3'
(R):5'- ATTCCTGAGTAGTCCGCATG -3'
Sequencing Primer
(F):5'- GCAGAAATGGAAATGCAGATTTTG -3'
(R):5'- TAGTCCGCATGCTCGCTGAAG -3'
|
Posted On |
2014-12-04 |