Incidental Mutation 'R3883:Serpinb13'
| ID |
308801 |
| 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 |
040796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
106908714-106928925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106926302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 159
(V159A)
|
| 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: V159A
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: V159A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (45/46) |
| 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 |
|---|
| Acsl1 |
C |
T |
8: 46,980,228 (GRCm39) |
S423L |
probably benign |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,052 (GRCm39) |
M343K |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cdk17 |
T |
C |
10: 93,047,939 (GRCm39) |
|
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,004,421 (GRCm39) |
W261R |
unknown |
Het |
| Dchs1 |
A |
G |
7: 105,411,770 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,138,518 (GRCm39) |
N772K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,942,188 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,455,382 (GRCm39) |
F4L |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,258 (GRCm39) |
D267G |
possibly damaging |
Het |
| Fbxo22 |
A |
T |
9: 55,130,546 (GRCm39) |
T169S |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,072,940 (GRCm39) |
N144D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,864 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10220 |
A |
C |
5: 26,321,908 (GRCm39) |
S255A |
possibly damaging |
Het |
| Gm15446 |
G |
T |
5: 110,088,313 (GRCm39) |
V9L |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,676,200 (GRCm39) |
L1011P |
probably damaging |
Het |
| Kif4-ps |
G |
T |
12: 101,112,473 (GRCm39) |
V201L |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lgsn |
C |
A |
1: 31,215,540 (GRCm39) |
D3E |
probably benign |
Het |
| Mavs |
T |
C |
2: 131,087,218 (GRCm39) |
S239P |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,219,322 (GRCm39) |
V667D |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,707 (GRCm39) |
Y403C |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,389,894 (GRCm39) |
S190P |
probably damaging |
Het |
| Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,420 (GRCm39) |
I133V |
probably benign |
Het |
| Or13p5 |
T |
C |
4: 118,591,882 (GRCm39) |
I52T |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,620,504 (GRCm39) |
K1632E |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,419,832 (GRCm39) |
S21P |
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,616,417 (GRCm39) |
F82L |
probably damaging |
Het |
| Reep6 |
G |
A |
10: 80,171,369 (GRCm39) |
R415Q |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,738,325 (GRCm39) |
M196K |
possibly damaging |
Het |
| Sprr1a |
G |
A |
3: 92,391,827 (GRCm39) |
P58L |
probably damaging |
Het |
| Taf1a |
A |
T |
1: 183,172,288 (GRCm39) |
T10S |
possibly damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,232 (GRCm39) |
V479E |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 187,995,579 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,914 (GRCm39) |
L243* |
probably null |
Het |
| Zbtb32 |
A |
G |
7: 30,290,569 (GRCm39) |
I242T |
probably benign |
Het |
| Zbtb7a |
T |
C |
10: 80,983,859 (GRCm39) |
C434R |
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 |
|
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'- CAGTATGAGAAAGTCCCCACTG -3'
(R):5'- CAGTGGCAAAAGTCTGAGTAACTG -3'
Sequencing Primer
(F):5'- TGACCCTTGGTGAGCAAGG -3'
(R):5'- CACTTGGCCAAATGACATTAGACTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation